Incidental Mutation 'R1466:Helz2'
| ID |
201142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helz2
|
| Ensembl Gene |
ENSMUSG00000027580 |
| Gene Name |
helicase with zinc finger 2, transcriptional coactivator |
| Synonyms |
BC006779 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1466 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180869408-180883820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 180878090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 903
(P903S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094203]
[ENSMUST00000108831]
[ENSMUST00000121484]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094203
AA Change: P903S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: P903S
| 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 damaging
Transcript: ENSMUST00000108831
AA Change: P903S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: P903S
| 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 damaging
Transcript: ENSMUST00000121484
AA Change: P903S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: P903S
| 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 |
0.2137 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.4%
|
| Validation Efficiency |
|
| 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: 134 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,520,536 (GRCm39) |
|
probably benign |
Het |
| Abcg8 |
G |
C |
17: 84,994,155 (GRCm39) |
|
probably benign |
Het |
| Abhd15 |
C |
T |
11: 77,406,236 (GRCm39) |
A71V |
probably damaging |
Het |
| AC167973.1 |
A |
T |
9: 43,176,649 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts12 |
T |
C |
15: 11,311,445 (GRCm39) |
F1234S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,993,239 (GRCm39) |
D4841G |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,378,797 (GRCm39) |
S2095P |
possibly damaging |
Het |
| Ampd2 |
T |
C |
3: 107,987,653 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
G |
T |
7: 100,578,866 (GRCm39) |
P694Q |
possibly damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,815,807 (GRCm39) |
I398V |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,959,372 (GRCm39) |
Y2250H |
probably damaging |
Het |
| Aspg |
A |
G |
12: 112,088,286 (GRCm39) |
N385D |
probably benign |
Het |
| Atxn3 |
G |
A |
12: 101,892,758 (GRCm39) |
R319C |
possibly damaging |
Het |
| Brca2 |
G |
A |
5: 150,475,723 (GRCm39) |
A2478T |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,501,821 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
C |
T |
6: 124,508,090 (GRCm39) |
C633Y |
probably damaging |
Het |
| C8g |
C |
T |
2: 25,390,228 (GRCm39) |
A6T |
probably benign |
Het |
| Capza2 |
T |
C |
6: 17,657,158 (GRCm39) |
|
probably benign |
Het |
| Cbl |
A |
T |
9: 44,065,541 (GRCm39) |
V706E |
probably benign |
Het |
| Ccdc121rt3 |
C |
T |
5: 112,502,630 (GRCm39) |
G358D |
probably benign |
Het |
| Cenatac |
A |
T |
9: 44,324,977 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
C |
T |
1: 139,485,312 (GRCm39) |
E45K |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,840,561 (GRCm39) |
|
probably null |
Het |
| Chek1 |
G |
T |
9: 36,637,153 (GRCm39) |
A2E |
probably damaging |
Het |
| Clcn2 |
G |
A |
16: 20,531,302 (GRCm39) |
|
probably benign |
Het |
| Cndp2 |
G |
A |
18: 84,695,440 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
A |
11: 101,071,186 (GRCm39) |
F366L |
probably damaging |
Het |
| Col5a1 |
G |
T |
2: 27,893,858 (GRCm39) |
|
probably benign |
Het |
| Corin |
C |
T |
5: 72,460,133 (GRCm39) |
|
probably null |
Het |
| Crb2 |
T |
C |
2: 37,673,400 (GRCm39) |
Y99H |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,925,725 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,834,410 (GRCm39) |
R332K |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Cym |
G |
A |
3: 107,120,774 (GRCm39) |
T277I |
probably damaging |
Het |
| Cyp2d11 |
C |
T |
15: 82,275,936 (GRCm39) |
C215Y |
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,304,121 (GRCm39) |
P1261L |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,840,160 (GRCm39) |
Y1265N |
probably benign |
Het |
| Dtx3l |
G |
A |
16: 35,753,098 (GRCm39) |
L503F |
probably damaging |
Het |
| Eda |
T |
A |
X: 99,435,998 (GRCm39) |
|
probably benign |
Homo |
| Efhb |
A |
G |
17: 53,744,206 (GRCm39) |
F462L |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,113,097 (GRCm39) |
T203S |
probably damaging |
Het |
| Exd1 |
G |
A |
2: 119,351,215 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
G |
A |
5: 45,737,851 (GRCm39) |
|
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,513,758 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
A |
C |
9: 16,286,778 (GRCm39) |
V915G |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,349 (GRCm39) |
T49A |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,913,951 (GRCm39) |
K60M |
probably benign |
Het |
| Galnt4 |
A |
G |
10: 98,944,571 (GRCm39) |
R99G |
probably benign |
Het |
| Gimap4 |
C |
A |
6: 48,668,216 (GRCm39) |
Q196K |
probably benign |
Het |
| Glcci1 |
C |
T |
6: 8,537,964 (GRCm39) |
T6I |
probably damaging |
Het |
| Gm10110 |
A |
T |
14: 90,135,511 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4884 |
A |
G |
7: 40,692,552 (GRCm39) |
K174E |
probably damaging |
Het |
| Grip2 |
A |
T |
6: 91,765,424 (GRCm39) |
D19E |
probably damaging |
Het |
| Grk4 |
T |
C |
5: 34,852,094 (GRCm39) |
S113P |
probably benign |
Het |
| Hectd3 |
G |
A |
4: 116,853,763 (GRCm39) |
E220K |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,259,585 (GRCm39) |
V2519E |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,936,156 (GRCm39) |
|
probably benign |
Het |
| Ints11 |
G |
A |
4: 155,972,567 (GRCm39) |
|
probably null |
Het |
| Kif1a |
A |
G |
1: 92,982,651 (GRCm39) |
W718R |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,307,709 (GRCm39) |
Y839N |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,927,999 (GRCm39) |
V1047D |
probably benign |
Het |
| Klhl23 |
T |
C |
2: 69,664,232 (GRCm39) |
I527T |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,278 (GRCm39) |
R125S |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,256,394 (GRCm39) |
N87D |
probably damaging |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lcn4 |
G |
A |
2: 26,558,588 (GRCm39) |
P166L |
probably damaging |
Het |
| Letmd1 |
T |
A |
15: 100,370,423 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
A |
G |
7: 138,810,224 (GRCm39) |
|
probably benign |
Het |
| Map4k2 |
G |
T |
19: 6,391,947 (GRCm39) |
W87L |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,028,435 (GRCm39) |
V457A |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,730,788 (GRCm39) |
S2886T |
probably benign |
Het |
| Mgat4a |
A |
T |
1: 37,503,487 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
A |
T |
9: 7,384,779 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Mrpl24 |
T |
A |
3: 87,829,235 (GRCm39) |
Y21* |
probably null |
Het |
| Mrps35 |
C |
T |
6: 146,957,482 (GRCm39) |
T169M |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,687,430 (GRCm39) |
D492V |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,302,711 (GRCm39) |
Y457C |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,574,886 (GRCm39) |
G1157D |
probably benign |
Het |
| Myg1 |
T |
A |
15: 102,245,825 (GRCm39) |
L275Q |
probably damaging |
Het |
| Naga |
T |
A |
15: 82,218,989 (GRCm39) |
M237L |
probably null |
Het |
| Nek1 |
C |
T |
8: 61,578,170 (GRCm39) |
|
probably benign |
Het |
| Oc90 |
T |
A |
15: 65,769,569 (GRCm39) |
Y96F |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,847 (GRCm39) |
L92H |
probably benign |
Het |
| Or13a18 |
A |
G |
7: 140,190,882 (GRCm39) |
I268V |
probably benign |
Het |
| Or4a80 |
C |
T |
2: 89,582,611 (GRCm39) |
C187Y |
probably damaging |
Het |
| Or5m11b |
T |
A |
2: 85,806,339 (GRCm39) |
F251I |
probably damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,742,116 (GRCm39) |
V249A |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,799,506 (GRCm39) |
C324S |
possibly damaging |
Het |
| Pald1 |
T |
C |
10: 61,184,304 (GRCm39) |
|
probably benign |
Het |
| Paox |
A |
G |
7: 139,709,194 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
T |
G |
3: 45,334,409 (GRCm39) |
L241R |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,418 (GRCm39) |
S857P |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,108 (GRCm39) |
E1000K |
possibly damaging |
Het |
| Plvap |
A |
T |
8: 71,961,125 (GRCm39) |
V149D |
probably benign |
Het |
| Ppef1 |
C |
A |
X: 159,408,670 (GRCm39) |
|
probably null |
Homo |
| Prkaa1 |
C |
A |
15: 5,208,279 (GRCm39) |
P507T |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,476,715 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
G |
13: 63,672,783 (GRCm39) |
Y804H |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,312,559 (GRCm39) |
I434V |
probably benign |
Het |
| Rbm28 |
G |
A |
6: 29,155,016 (GRCm39) |
|
probably benign |
Het |
| Rfx5 |
T |
A |
3: 94,863,614 (GRCm39) |
Y88N |
probably damaging |
Het |
| Rnase2b |
A |
T |
14: 51,400,296 (GRCm39) |
K126* |
probably null |
Het |
| Rpl3l |
A |
G |
17: 24,949,845 (GRCm39) |
I15V |
probably benign |
Het |
| Saal1 |
G |
T |
7: 46,351,969 (GRCm39) |
|
probably null |
Het |
| Sbpl |
A |
C |
17: 24,172,228 (GRCm39) |
D230E |
unknown |
Het |
| Scn10a |
T |
C |
9: 119,495,556 (GRCm39) |
Y322C |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,321,169 (GRCm39) |
Y1308N |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,839,393 (GRCm39) |
D824E |
possibly damaging |
Het |
| Slc25a36 |
A |
G |
9: 96,962,408 (GRCm39) |
F194L |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
| Slc7a11 |
G |
T |
3: 50,335,522 (GRCm39) |
|
probably null |
Het |
| Slco4c1 |
A |
T |
1: 96,768,897 (GRCm39) |
S322T |
probably damaging |
Het |
| Smarcc2 |
A |
T |
10: 128,310,114 (GRCm39) |
T376S |
probably damaging |
Het |
| Srebf1 |
C |
T |
11: 60,091,528 (GRCm39) |
R999H |
probably benign |
Het |
| St3gal3 |
A |
C |
4: 117,964,859 (GRCm39) |
M1R |
probably null |
Het |
| Syp |
A |
T |
X: 7,514,944 (GRCm39) |
|
probably benign |
Homo |
| Tas1r2 |
A |
G |
4: 139,396,722 (GRCm39) |
D687G |
probably damaging |
Het |
| Tekt4 |
A |
T |
17: 25,691,048 (GRCm39) |
Q118L |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,666,123 (GRCm39) |
I215N |
probably damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,600 (GRCm39) |
N480S |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,827,947 (GRCm39) |
M839K |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,479,977 (GRCm39) |
F77S |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,761,603 (GRCm39) |
A205V |
possibly damaging |
Het |
| Ubp1 |
T |
G |
9: 113,773,903 (GRCm39) |
|
probably benign |
Het |
| Uhmk1 |
A |
T |
1: 170,036,222 (GRCm39) |
|
probably null |
Het |
| Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,367,388 (GRCm39) |
Y181C |
probably damaging |
Het |
| Wdr26 |
C |
T |
1: 181,013,499 (GRCm39) |
|
probably benign |
Het |
| Wfikkn2 |
G |
A |
11: 94,129,721 (GRCm39) |
T140I |
probably damaging |
Het |
| Zfp704 |
G |
T |
3: 9,512,408 (GRCm39) |
T288N |
possibly damaging |
Het |
| Zfp93 |
T |
C |
7: 23,975,521 (GRCm39) |
V502A |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,815,505 (GRCm39) |
P2942S |
probably damaging |
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 |
|
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 |
|
R4915:Helz2
|
UTSW |
2 |
180,874,231 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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'- ATGGAAGATGATGCGACTCTGCTG -3'
(R):5'- TCGTCCTCCAAGACAGACTGATCC -3'
Sequencing Primer
(F):5'- ACTCTGCTGAGCGATCTTG -3'
(R):5'- GACTGATCCAACCACGTTGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation