Incidental Mutation 'R4915:Helz2'
| ID |
379906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helz2
|
| Ensembl Gene |
ENSMUSG00000027580 |
| Gene Name |
helicase with zinc finger 2, transcriptional coactivator |
| Synonyms |
BC006779 |
| MMRRC Submission |
042517-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180869408-180883820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180874231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 2088
(R2088G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094203]
[ENSMUST00000108831]
[ENSMUST00000121484]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094203
AA Change: R2088G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: R2088G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
509 |
517 |
N/A |
INTRINSIC |
|
AAA
|
782 |
973 |
1.41e-2 |
SMART |
|
low complexity region
|
1238 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1284 |
1291 |
N/A |
INTRINSIC |
|
RNB
|
1567 |
1924 |
2.45e-87 |
SMART |
|
low complexity region
|
2056 |
2067 |
N/A |
INTRINSIC |
|
low complexity region
|
2242 |
2259 |
N/A |
INTRINSIC |
|
AAA
|
2462 |
2713 |
1.48e0 |
SMART |
|
SCOP:d1pjr_2
|
2793 |
2838 |
2e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108831
AA Change: R2088G
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: R2088G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
509 |
517 |
N/A |
INTRINSIC |
|
AAA
|
782 |
973 |
1.41e-2 |
SMART |
|
low complexity region
|
1238 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1284 |
1291 |
N/A |
INTRINSIC |
|
RNB
|
1567 |
1924 |
2.45e-87 |
SMART |
|
low complexity region
|
2056 |
2067 |
N/A |
INTRINSIC |
|
low complexity region
|
2242 |
2259 |
N/A |
INTRINSIC |
|
AAA
|
2462 |
2713 |
1.48e0 |
SMART |
|
SCOP:d1pjr_2
|
2793 |
2838 |
2e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121484
AA Change: R2088G
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: R2088G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
509 |
517 |
N/A |
INTRINSIC |
|
Pfam:AAA_11
|
761 |
877 |
3.9e-10 |
PFAM |
|
Pfam:AAA_19
|
780 |
849 |
1.7e-7 |
PFAM |
|
Pfam:AAA_11
|
870 |
952 |
2e-15 |
PFAM |
|
Pfam:AAA_12
|
958 |
1162 |
3.8e-26 |
PFAM |
|
low complexity region
|
1238 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1284 |
1291 |
N/A |
INTRINSIC |
|
RNB
|
1567 |
1924 |
2.45e-87 |
SMART |
|
low complexity region
|
2056 |
2067 |
N/A |
INTRINSIC |
|
low complexity region
|
2242 |
2259 |
N/A |
INTRINSIC |
|
Pfam:AAA_11
|
2400 |
2653 |
4e-42 |
PFAM |
|
Pfam:AAA_12
|
2660 |
2866 |
2e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155049
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 87.9%
|
| Validation Efficiency |
98% (162/166) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 135 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,236,420 (GRCm39) |
A1257V |
possibly damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,662 (GRCm39) |
S463P |
probably damaging |
Het |
| Angptl1 |
T |
G |
1: 156,672,388 (GRCm39) |
D71E |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,736,320 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,165,112 (GRCm39) |
S649P |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,556 (GRCm39) |
E434G |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,566,292 (GRCm39) |
D415V |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,744,387 (GRCm39) |
T1373S |
possibly damaging |
Het |
| Bcas1 |
T |
C |
2: 170,220,806 (GRCm39) |
D324G |
probably damaging |
Het |
| Bfsp1 |
C |
T |
2: 143,669,391 (GRCm39) |
R396Q |
probably benign |
Het |
| Bmi1 |
G |
A |
2: 18,687,143 (GRCm39) |
|
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,156,026 (GRCm39) |
|
probably null |
Het |
| Brd9 |
A |
G |
13: 74,086,574 (GRCm39) |
E25G |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,804,046 (GRCm39) |
C331* |
probably null |
Het |
| Ccdc198 |
A |
T |
14: 49,470,351 (GRCm39) |
N189K |
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,614 (GRCm39) |
S58P |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,791,175 (GRCm39) |
D328G |
probably damaging |
Het |
| Cherp |
T |
C |
8: 73,222,241 (GRCm39) |
D255G |
probably damaging |
Het |
| Clec5a |
T |
A |
6: 40,562,165 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,506,969 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,795,532 (GRCm39) |
G1529E |
unknown |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2a22 |
C |
A |
7: 26,637,195 (GRCm39) |
E196D |
probably benign |
Het |
| Cyp4f18 |
T |
A |
8: 72,762,898 (GRCm39) |
H63L |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,732,049 (GRCm39) |
|
probably null |
Het |
| Ddx6 |
T |
A |
9: 44,524,170 (GRCm39) |
D82E |
probably damaging |
Het |
| Defb42 |
A |
G |
14: 63,285,790 (GRCm39) |
I57V |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,500,296 (GRCm39) |
F943S |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,671,905 (GRCm39) |
|
probably null |
Het |
| Disp2 |
A |
T |
2: 118,620,935 (GRCm39) |
S556C |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,455,725 (GRCm39) |
D816V |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,452,167 (GRCm39) |
|
probably benign |
Het |
| Efcab11 |
T |
C |
12: 99,685,321 (GRCm39) |
D151G |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,096,592 (GRCm39) |
D299G |
probably benign |
Het |
| Evl |
G |
T |
12: 108,652,365 (GRCm39) |
R359L |
probably damaging |
Het |
| Fasn |
T |
G |
11: 120,707,472 (GRCm39) |
N799T |
probably benign |
Het |
| Fbxo3 |
T |
G |
2: 103,885,311 (GRCm39) |
N388K |
probably damaging |
Het |
| Fbxw14 |
A |
T |
9: 109,103,592 (GRCm39) |
F40Y |
possibly damaging |
Het |
| Fbxw22 |
A |
G |
9: 109,213,009 (GRCm39) |
F313L |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,873,220 (GRCm39) |
K1287E |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,402,328 (GRCm39) |
T790S |
probably benign |
Het |
| Fut8 |
G |
T |
12: 77,521,818 (GRCm39) |
A486S |
probably damaging |
Het |
| Gfra1 |
A |
T |
19: 58,255,522 (GRCm39) |
S308R |
probably damaging |
Het |
| Gm13030 |
T |
A |
4: 138,601,239 (GRCm39) |
|
probably benign |
Het |
| Gm37150 |
C |
T |
9: 72,292,772 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6788 |
C |
T |
19: 28,740,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
C |
14: 43,091,573 (GRCm39) |
N65S |
unknown |
Het |
| Gnb4 |
C |
T |
3: 32,639,236 (GRCm39) |
|
probably benign |
Het |
| Gprin1 |
G |
T |
13: 54,885,886 (GRCm39) |
P796Q |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,188,565 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
C |
T |
3: 98,357,845 (GRCm39) |
V56M |
probably damaging |
Het |
| Ighv6-6 |
C |
A |
12: 114,398,595 (GRCm39) |
R57L |
probably damaging |
Het |
| Inhca |
A |
C |
9: 103,129,054 (GRCm39) |
Y235* |
probably null |
Het |
| Inpp5f |
A |
T |
7: 128,286,840 (GRCm39) |
D573V |
probably damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,008,834 (GRCm39) |
I643K |
possibly damaging |
Het |
| Itga11 |
C |
A |
9: 62,659,530 (GRCm39) |
Y427* |
probably null |
Het |
| Kbtbd8 |
T |
G |
6: 95,103,515 (GRCm39) |
M388R |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 93,002,700 (GRCm39) |
E233V |
probably benign |
Het |
| Krt10 |
T |
C |
11: 99,278,334 (GRCm39) |
N275S |
probably damaging |
Het |
| Lrrc3 |
T |
C |
10: 77,737,253 (GRCm39) |
D61G |
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,128,127 (GRCm39) |
S377P |
possibly damaging |
Het |
| Mccc1 |
A |
G |
3: 36,051,703 (GRCm39) |
L32S |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,959,222 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,761,419 (GRCm39) |
A31T |
probably damaging |
Het |
| Mthfsl |
A |
C |
9: 88,597,550 (GRCm39) |
L67V |
probably damaging |
Het |
| Myo1c |
T |
G |
11: 75,547,135 (GRCm39) |
M1R |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,960,847 (GRCm39) |
M506K |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,498,458 (GRCm39) |
I172V |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,674,171 (GRCm39) |
E850G |
possibly damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,083,885 (GRCm39) |
T565A |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,693,656 (GRCm39) |
F163L |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,395,681 (GRCm39) |
V1197A |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,424,341 (GRCm39) |
T1463A |
probably benign |
Het |
| Nsf |
G |
A |
11: 103,801,185 (GRCm39) |
|
probably benign |
Het |
| Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,725 (GRCm39) |
I44F |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,737 (GRCm39) |
V96A |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,355 (GRCm39) |
I223L |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,384,399 (GRCm39) |
L23P |
probably damaging |
Het |
| Or9g10 |
T |
C |
2: 85,584,465 (GRCm39) |
|
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,101,510 (GRCm39) |
D234E |
probably damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,021,269 (GRCm39) |
F1425L |
probably benign |
Het |
| Pdzd9 |
T |
G |
7: 120,269,391 (GRCm39) |
N10T |
possibly damaging |
Het |
| Pex6 |
A |
T |
17: 47,024,982 (GRCm39) |
H345L |
probably damaging |
Het |
| Pfkfb3 |
G |
A |
2: 11,495,109 (GRCm39) |
Q100* |
probably null |
Het |
| Pgm2 |
G |
A |
5: 64,258,291 (GRCm39) |
G92E |
probably damaging |
Het |
| Pip4k2c |
T |
C |
10: 127,035,196 (GRCm39) |
T391A |
possibly damaging |
Het |
| Plcxd2 |
C |
T |
16: 45,800,941 (GRCm39) |
W94* |
probably null |
Het |
| Ppm1k |
T |
A |
6: 57,487,762 (GRCm39) |
N354Y |
probably damaging |
Het |
| Prkcg |
T |
G |
7: 3,378,781 (GRCm39) |
Y624* |
probably null |
Het |
| Rabep2 |
T |
C |
7: 126,044,094 (GRCm39) |
S517P |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,269,412 (GRCm39) |
I717T |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,649,696 (GRCm39) |
C484R |
probably damaging |
Het |
| Rdh19 |
A |
G |
10: 127,686,113 (GRCm39) |
D75G |
probably benign |
Het |
| Rpl21-ps10 |
T |
C |
3: 38,161,617 (GRCm39) |
|
noncoding transcript |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,593 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rwdd1 |
T |
C |
10: 33,885,074 (GRCm39) |
D62G |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,119,373 (GRCm39) |
I552F |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,291,799 (GRCm39) |
N1649S |
probably damaging |
Het |
| Slc20a2 |
C |
T |
8: 23,051,020 (GRCm39) |
S351L |
probably damaging |
Het |
| Slc24a1 |
A |
T |
9: 64,855,213 (GRCm39) |
F565I |
unknown |
Het |
| Slc4a1 |
A |
G |
11: 102,243,279 (GRCm39) |
V784A |
probably damaging |
Het |
| Slf2 |
T |
G |
19: 44,960,100 (GRCm39) |
D1022E |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,076,199 (GRCm39) |
D814G |
probably damaging |
Het |
| Spata4 |
T |
C |
8: 55,055,471 (GRCm39) |
|
probably null |
Het |
| Spats2l |
A |
T |
1: 57,941,347 (GRCm39) |
K202M |
probably damaging |
Het |
| Speer4b |
C |
T |
5: 27,705,134 (GRCm39) |
E80K |
probably benign |
Het |
| Sqle |
T |
G |
15: 59,193,218 (GRCm39) |
Y198* |
probably null |
Het |
| Srek1 |
T |
C |
13: 103,889,194 (GRCm39) |
|
probably benign |
Het |
| Srek1 |
T |
C |
13: 103,889,071 (GRCm39) |
|
probably benign |
Het |
| St14 |
G |
A |
9: 31,019,960 (GRCm39) |
R50* |
probably null |
Het |
| Tcaf1 |
A |
G |
6: 42,652,130 (GRCm39) |
V784A |
probably damaging |
Het |
| Tfr2 |
C |
T |
5: 137,581,673 (GRCm39) |
R587W |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,985,411 (GRCm39) |
V357A |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,742,545 (GRCm39) |
I1101F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttpal |
G |
A |
2: 163,449,397 (GRCm39) |
R84H |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,022,433 (GRCm39) |
T799A |
probably benign |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,646 (GRCm39) |
D148V |
probably damaging |
Het |
| Usp29 |
C |
T |
7: 6,964,504 (GRCm39) |
P116S |
probably benign |
Het |
| Usp8 |
A |
T |
2: 126,562,060 (GRCm39) |
K85* |
probably null |
Het |
| Usp9y |
C |
T |
Y: 1,316,735 (GRCm39) |
R1938H |
probably damaging |
Het |
| Vmn1r90 |
T |
G |
7: 14,295,950 (GRCm39) |
R49S |
possibly damaging |
Het |
| Vmn2r71 |
C |
A |
7: 85,270,476 (GRCm39) |
N547K |
probably damaging |
Het |
| Vps45 |
T |
C |
3: 95,926,943 (GRCm39) |
T535A |
probably damaging |
Het |
| Yars1 |
A |
T |
4: 129,104,384 (GRCm39) |
|
probably benign |
Het |
| Zfp114 |
T |
C |
7: 23,877,290 (GRCm39) |
L44P |
probably damaging |
Het |
| Zfp36l2 |
A |
G |
17: 84,493,690 (GRCm39) |
|
probably benign |
Het |
| Zfp512 |
T |
C |
5: 31,634,209 (GRCm39) |
S407P |
probably damaging |
Het |
| Zfp574 |
C |
T |
7: 24,780,151 (GRCm39) |
P391L |
probably damaging |
Het |
| Zfp607a |
T |
G |
7: 27,577,985 (GRCm39) |
C352G |
probably benign |
Het |
| Zfp791 |
T |
A |
8: 85,837,580 (GRCm39) |
I95L |
probably benign |
Het |
| Zfr |
A |
C |
15: 12,162,198 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Helz2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Helz2
|
APN |
2 |
180,871,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00515:Helz2
|
APN |
2 |
180,874,799 (GRCm39) |
nonsense |
probably null |
|
|
IGL00704:Helz2
|
APN |
2 |
180,876,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00847:Helz2
|
APN |
2 |
180,874,038 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01448:Helz2
|
APN |
2 |
180,875,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Helz2
|
APN |
2 |
180,874,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01790:Helz2
|
APN |
2 |
180,880,274 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02116:Helz2
|
APN |
2 |
180,873,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Helz2
|
APN |
2 |
180,873,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02402:Helz2
|
APN |
2 |
180,872,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02403:Helz2
|
APN |
2 |
180,872,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02733:Helz2
|
APN |
2 |
180,876,819 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02869:Helz2
|
APN |
2 |
180,872,939 (GRCm39) |
intron |
probably benign |
|
|
IGL03003:Helz2
|
APN |
2 |
180,882,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Helz2
|
APN |
2 |
180,871,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03310:Helz2
|
APN |
2 |
180,873,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
Colby
|
UTSW |
2 |
180,874,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Helz2
|
UTSW |
2 |
180,876,627 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0013:Helz2
|
UTSW |
2 |
180,882,752 (GRCm39) |
missense |
probably benign |
|
|
R0013:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Helz2
|
UTSW |
2 |
180,882,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Helz2
|
UTSW |
2 |
180,882,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Helz2
|
UTSW |
2 |
180,870,614 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0055:Helz2
|
UTSW |
2 |
180,870,614 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0071:Helz2
|
UTSW |
2 |
180,878,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Helz2
|
UTSW |
2 |
180,878,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Helz2
|
UTSW |
2 |
180,879,595 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0117:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Helz2
|
UTSW |
2 |
180,874,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Helz2
|
UTSW |
2 |
180,872,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Helz2
|
UTSW |
2 |
180,872,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Helz2
|
UTSW |
2 |
180,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Helz2
|
UTSW |
2 |
180,872,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0442:Helz2
|
UTSW |
2 |
180,874,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0497:Helz2
|
UTSW |
2 |
180,871,449 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0517:Helz2
|
UTSW |
2 |
180,869,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0541:Helz2
|
UTSW |
2 |
180,876,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0542:Helz2
|
UTSW |
2 |
180,873,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Helz2
|
UTSW |
2 |
180,873,909 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0692:Helz2
|
UTSW |
2 |
180,882,674 (GRCm39) |
missense |
probably benign |
|
|
R0826:Helz2
|
UTSW |
2 |
180,882,646 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0834:Helz2
|
UTSW |
2 |
180,872,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0880:Helz2
|
UTSW |
2 |
180,877,928 (GRCm39) |
missense |
probably benign |
|
|
R1170:Helz2
|
UTSW |
2 |
180,871,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Helz2
|
UTSW |
2 |
180,872,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Helz2
|
UTSW |
2 |
180,879,389 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1358:Helz2
|
UTSW |
2 |
180,874,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Helz2
|
UTSW |
2 |
180,877,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1464:Helz2
|
UTSW |
2 |
180,881,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Helz2
|
UTSW |
2 |
180,881,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Helz2
|
UTSW |
2 |
180,878,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Helz2
|
UTSW |
2 |
180,878,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Helz2
|
UTSW |
2 |
180,874,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1564:Helz2
|
UTSW |
2 |
180,875,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1584:Helz2
|
UTSW |
2 |
180,878,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Helz2
|
UTSW |
2 |
180,875,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1757:Helz2
|
UTSW |
2 |
180,878,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Helz2
|
UTSW |
2 |
180,880,252 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1779:Helz2
|
UTSW |
2 |
180,876,780 (GRCm39) |
missense |
probably benign |
|
|
R1837:Helz2
|
UTSW |
2 |
180,871,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Helz2
|
UTSW |
2 |
180,873,878 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1894:Helz2
|
UTSW |
2 |
180,876,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Helz2
|
UTSW |
2 |
180,875,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Helz2
|
UTSW |
2 |
180,873,122 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2034:Helz2
|
UTSW |
2 |
180,874,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Helz2
|
UTSW |
2 |
180,879,272 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2061:Helz2
|
UTSW |
2 |
180,882,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Helz2
|
UTSW |
2 |
180,876,895 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2142:Helz2
|
UTSW |
2 |
180,873,173 (GRCm39) |
missense |
probably benign |
|
|
R2180:Helz2
|
UTSW |
2 |
180,875,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Helz2
|
UTSW |
2 |
180,870,841 (GRCm39) |
nonsense |
probably null |
|
|
R2248:Helz2
|
UTSW |
2 |
180,875,226 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2495:Helz2
|
UTSW |
2 |
180,874,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2886:Helz2
|
UTSW |
2 |
180,882,535 (GRCm39) |
missense |
probably benign |
|
|
R3617:Helz2
|
UTSW |
2 |
180,874,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3776:Helz2
|
UTSW |
2 |
180,882,182 (GRCm39) |
nonsense |
probably null |
|
|
R3803:Helz2
|
UTSW |
2 |
180,881,789 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4043:Helz2
|
UTSW |
2 |
180,871,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4052:Helz2
|
UTSW |
2 |
180,882,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4232:Helz2
|
UTSW |
2 |
180,871,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Helz2
|
UTSW |
2 |
180,870,626 (GRCm39) |
missense |
probably benign |
|
|
R4624:Helz2
|
UTSW |
2 |
180,881,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4720:Helz2
|
UTSW |
2 |
180,880,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Helz2
|
UTSW |
2 |
180,879,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Helz2
|
UTSW |
2 |
180,871,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Helz2
|
UTSW |
2 |
180,877,940 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4965:Helz2
|
UTSW |
2 |
180,882,709 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5022:Helz2
|
UTSW |
2 |
180,882,362 (GRCm39) |
missense |
probably benign |
|
|
R5089:Helz2
|
UTSW |
2 |
180,876,942 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5190:Helz2
|
UTSW |
2 |
180,872,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5309:Helz2
|
UTSW |
2 |
180,876,639 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5358:Helz2
|
UTSW |
2 |
180,877,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5379:Helz2
|
UTSW |
2 |
180,876,862 (GRCm39) |
missense |
probably benign |
|
|
R5559:Helz2
|
UTSW |
2 |
180,871,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5591:Helz2
|
UTSW |
2 |
180,882,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5596:Helz2
|
UTSW |
2 |
180,879,082 (GRCm39) |
intron |
probably benign |
|
|
R5805:Helz2
|
UTSW |
2 |
180,882,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5823:Helz2
|
UTSW |
2 |
180,878,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5825:Helz2
|
UTSW |
2 |
180,874,449 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5873:Helz2
|
UTSW |
2 |
180,875,821 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5928:Helz2
|
UTSW |
2 |
180,872,177 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5936:Helz2
|
UTSW |
2 |
180,872,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Helz2
|
UTSW |
2 |
180,872,843 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6045:Helz2
|
UTSW |
2 |
180,882,106 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6077:Helz2
|
UTSW |
2 |
180,874,831 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6218:Helz2
|
UTSW |
2 |
180,874,087 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6218:Helz2
|
UTSW |
2 |
180,877,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Helz2
|
UTSW |
2 |
180,874,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6346:Helz2
|
UTSW |
2 |
180,875,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Helz2
|
UTSW |
2 |
180,875,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Helz2
|
UTSW |
2 |
180,875,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6373:Helz2
|
UTSW |
2 |
180,875,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6385:Helz2
|
UTSW |
2 |
180,875,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6464:Helz2
|
UTSW |
2 |
180,876,862 (GRCm39) |
missense |
probably benign |
|
|
R6581:Helz2
|
UTSW |
2 |
180,871,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6651:Helz2
|
UTSW |
2 |
180,881,350 (GRCm39) |
nonsense |
probably null |
|
|
R6964:Helz2
|
UTSW |
2 |
180,872,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Helz2
|
UTSW |
2 |
180,882,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Helz2
|
UTSW |
2 |
180,873,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7372:Helz2
|
UTSW |
2 |
180,880,216 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7512:Helz2
|
UTSW |
2 |
180,877,393 (GRCm39) |
splice site |
probably null |
|
|
R7512:Helz2
|
UTSW |
2 |
180,872,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7583:Helz2
|
UTSW |
2 |
180,879,365 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7724:Helz2
|
UTSW |
2 |
180,873,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Helz2
|
UTSW |
2 |
180,872,148 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7748:Helz2
|
UTSW |
2 |
180,876,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Helz2
|
UTSW |
2 |
180,875,784 (GRCm39) |
missense |
probably benign |
|
|
R7799:Helz2
|
UTSW |
2 |
180,879,782 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7841:Helz2
|
UTSW |
2 |
180,874,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Helz2
|
UTSW |
2 |
180,879,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8026:Helz2
|
UTSW |
2 |
180,881,998 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8030:Helz2
|
UTSW |
2 |
180,879,689 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8080:Helz2
|
UTSW |
2 |
180,880,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8237:Helz2
|
UTSW |
2 |
180,871,124 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8245:Helz2
|
UTSW |
2 |
180,879,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Helz2
|
UTSW |
2 |
180,871,950 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8486:Helz2
|
UTSW |
2 |
180,871,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Helz2
|
UTSW |
2 |
180,871,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Helz2
|
UTSW |
2 |
180,874,560 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8907:Helz2
|
UTSW |
2 |
180,874,920 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8911:Helz2
|
UTSW |
2 |
180,880,173 (GRCm39) |
missense |
|
|
|
R8953:Helz2
|
UTSW |
2 |
180,874,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Helz2
|
UTSW |
2 |
180,871,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8969:Helz2
|
UTSW |
2 |
180,879,581 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8976:Helz2
|
UTSW |
2 |
180,876,486 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9015:Helz2
|
UTSW |
2 |
180,870,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Helz2
|
UTSW |
2 |
180,874,261 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9052:Helz2
|
UTSW |
2 |
180,881,968 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9089:Helz2
|
UTSW |
2 |
180,881,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Helz2
|
UTSW |
2 |
180,881,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Helz2
|
UTSW |
2 |
180,871,883 (GRCm39) |
missense |
probably benign |
|
|
R9186:Helz2
|
UTSW |
2 |
180,876,457 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9373:Helz2
|
UTSW |
2 |
180,882,741 (GRCm39) |
missense |
probably benign |
|
|
R9407:Helz2
|
UTSW |
2 |
180,881,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9465:Helz2
|
UTSW |
2 |
180,874,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9502:Helz2
|
UTSW |
2 |
180,878,245 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9538:Helz2
|
UTSW |
2 |
180,882,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Helz2
|
UTSW |
2 |
180,882,470 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9659:Helz2
|
UTSW |
2 |
180,882,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9800:Helz2
|
UTSW |
2 |
180,882,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0064:Helz2
|
UTSW |
2 |
180,873,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Helz2
|
UTSW |
2 |
180,879,357 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1177:Helz2
|
UTSW |
2 |
180,877,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCATGTGCTCCAGACAG -3'
(R):5'- ACTACCATTCCCTGCAGTTG -3'
Sequencing Primer
(F):5'- ATGTGCTCCAGACAGAGGCTG -3'
(R):5'- CATTCCCTGCAGTTGGCTGAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation