Incidental Mutation 'R0083:Helq'
| ID |
19751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helq
|
| Ensembl Gene |
ENSMUSG00000035266 |
| Gene Name |
helicase, POLQ-like |
| Synonyms |
Hel308, D430018E21Rik |
| MMRRC Submission |
038370-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 100916234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 913
(E913*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
|
| AlphaFold |
Q2VPA6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044684
AA Change: E913*
|
| SMART Domains |
Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: E913*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
DEXDc
|
291 |
486 |
3.05e-17 |
SMART |
|
HELICc
|
585 |
671 |
2.54e-14 |
SMART |
|
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1042 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133845
|
| SMART Domains |
Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
290 |
485 |
3.05e-17 |
SMART |
|
HELICc
|
584 |
670 |
2.54e-14 |
SMART |
|
low complexity region
|
811 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155362
|
| SMART Domains |
Protein: ENSMUSP00000120806
Gene: ENSMUSG00000035266
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 83.1%
|
| Validation Efficiency |
88% (117/133) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced fertility and increased incident of tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,667,406 (GRCm39) |
I266F |
unknown |
Het |
| Adam39 |
T |
G |
8: 41,278,115 (GRCm39) |
F169V |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,500,215 (GRCm39) |
H1085Q |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
| Atp6v0d2 |
G |
A |
4: 19,880,001 (GRCm39) |
|
probably benign |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| C1qtnf3 |
G |
A |
15: 10,975,718 (GRCm39) |
V175I |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,602,484 (GRCm39) |
M1293T |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,502,330 (GRCm39) |
I362M |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,762,346 (GRCm39) |
D104E |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,484,832 (GRCm39) |
|
probably null |
Het |
| Cul7 |
C |
A |
17: 46,966,482 (GRCm39) |
R304S |
probably benign |
Het |
| Elfn2 |
A |
T |
15: 78,557,614 (GRCm39) |
L311Q |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,561,226 (GRCm39) |
L320P |
probably damaging |
Het |
| Fads2b |
A |
T |
2: 85,324,476 (GRCm39) |
F283L |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
| Fkbp4 |
G |
A |
6: 128,409,370 (GRCm39) |
|
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,746,452 (GRCm39) |
M1273V |
probably benign |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Ints13 |
A |
G |
6: 146,452,162 (GRCm39) |
Y686H |
probably benign |
Het |
| Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
| Krt81 |
A |
G |
15: 101,361,346 (GRCm39) |
I78T |
probably damaging |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mctp2 |
G |
T |
7: 71,878,264 (GRCm39) |
F271L |
possibly damaging |
Het |
| Mrto4 |
C |
T |
4: 139,075,279 (GRCm39) |
V175I |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,283,943 (GRCm39) |
V654A |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,524,984 (GRCm39) |
Y323C |
probably damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,279,760 (GRCm39) |
M94R |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,913,200 (GRCm39) |
D6939G |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
| Pias4 |
A |
G |
10: 81,000,000 (GRCm39) |
S18P |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,192,496 (GRCm39) |
G34S |
possibly damaging |
Het |
| Ptprj |
A |
T |
2: 90,300,121 (GRCm39) |
|
probably null |
Het |
| Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
| Sap130 |
C |
A |
18: 31,799,382 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,844,694 (GRCm39) |
P902S |
probably damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,645 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,077,358 (GRCm39) |
V53I |
probably benign |
Het |
| Sstr1 |
T |
A |
12: 58,260,528 (GRCm39) |
C384S |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,887,641 (GRCm39) |
M272V |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
A |
G |
11: 115,687,550 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,604,674 (GRCm39) |
I1093L |
probably benign |
Het |
| Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,030,940 (GRCm39) |
|
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp939 |
A |
T |
7: 39,123,534 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Helq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Helq
|
APN |
5 |
100,912,948 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02142:Helq
|
APN |
5 |
100,930,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02172:Helq
|
APN |
5 |
100,938,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02234:Helq
|
APN |
5 |
100,944,336 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03086:Helq
|
APN |
5 |
100,944,793 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0108:Helq
|
UTSW |
5 |
100,916,234 (GRCm39) |
nonsense |
probably null |
|
|
R0276:Helq
|
UTSW |
5 |
100,938,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Helq
|
UTSW |
5 |
100,938,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0383:Helq
|
UTSW |
5 |
100,927,031 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0554:Helq
|
UTSW |
5 |
100,938,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1289:Helq
|
UTSW |
5 |
100,944,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Helq
|
UTSW |
5 |
100,940,679 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1800:Helq
|
UTSW |
5 |
100,921,990 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1809:Helq
|
UTSW |
5 |
100,921,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1838:Helq
|
UTSW |
5 |
100,919,745 (GRCm39) |
nonsense |
probably null |
|
|
R3086:Helq
|
UTSW |
5 |
100,921,858 (GRCm39) |
missense |
probably benign |
|
|
R3439:Helq
|
UTSW |
5 |
100,946,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3735:Helq
|
UTSW |
5 |
100,938,054 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3736:Helq
|
UTSW |
5 |
100,938,054 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4172:Helq
|
UTSW |
5 |
100,919,713 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4835:Helq
|
UTSW |
5 |
100,922,029 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4855:Helq
|
UTSW |
5 |
100,931,025 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4908:Helq
|
UTSW |
5 |
100,910,507 (GRCm39) |
splice site |
probably null |
|
|
R4973:Helq
|
UTSW |
5 |
100,940,737 (GRCm39) |
intron |
probably benign |
|
|
R5561:Helq
|
UTSW |
5 |
100,934,916 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5583:Helq
|
UTSW |
5 |
100,910,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5608:Helq
|
UTSW |
5 |
100,938,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Helq
|
UTSW |
5 |
100,933,170 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5875:Helq
|
UTSW |
5 |
100,944,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Helq
|
UTSW |
5 |
100,946,305 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6344:Helq
|
UTSW |
5 |
100,914,594 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6446:Helq
|
UTSW |
5 |
100,916,250 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6825:Helq
|
UTSW |
5 |
100,940,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Helq
|
UTSW |
5 |
100,939,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Helq
|
UTSW |
5 |
100,931,051 (GRCm39) |
frame shift |
probably null |
|
|
R7535:Helq
|
UTSW |
5 |
100,937,999 (GRCm39) |
splice site |
probably null |
|
|
R7889:Helq
|
UTSW |
5 |
100,940,427 (GRCm39) |
splice site |
probably null |
|
|
R8243:Helq
|
UTSW |
5 |
100,918,348 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8720:Helq
|
UTSW |
5 |
100,914,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Helq
|
UTSW |
5 |
100,926,598 (GRCm39) |
unclassified |
probably benign |
|
|
R9152:Helq
|
UTSW |
5 |
100,918,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9209:Helq
|
UTSW |
5 |
100,939,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Helq
|
UTSW |
5 |
100,939,218 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9223:Helq
|
UTSW |
5 |
100,946,303 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9301:Helq
|
UTSW |
5 |
100,927,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Helq
|
UTSW |
5 |
100,934,927 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Helq
|
UTSW |
5 |
100,914,632 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCGAAAGAACACAGTGACTC -3'
(R):5'- TGTGAAGGTTCGATCTGCTCTCCTC -3'
Sequencing Primer
(F):5'- CACAGTGACTCAGCAGGG -3'
(R):5'- GACAAGTGACCTTGACTCCTCTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation