Incidental Mutation 'IGL00926:Helq'
ID |
27435 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Helq
|
Ensembl Gene |
ENSMUSG00000035266 |
Gene Name |
helicase, POLQ-like |
Synonyms |
Hel308, D430018E21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00926
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 100912948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
|
AlphaFold |
Q2VPA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044684
|
SMART Domains |
Protein: ENSMUSP00000041599 Gene: ENSMUSG00000035266
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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr2 |
A |
T |
X: 21,352,524 (GRCm39) |
M53L |
probably benign |
Het |
Apob |
T |
C |
12: 8,065,421 (GRCm39) |
V4097A |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
Cadps |
C |
A |
14: 12,491,795 (GRCm38) |
R785L |
probably damaging |
Het |
Cavin2 |
A |
G |
1: 51,340,036 (GRCm39) |
K238E |
probably damaging |
Het |
Ccdc158 |
G |
A |
5: 92,798,626 (GRCm39) |
T358I |
probably damaging |
Het |
Cds1 |
A |
G |
5: 101,957,767 (GRCm39) |
I246M |
probably damaging |
Het |
Cep19 |
A |
G |
16: 31,925,898 (GRCm39) |
E102G |
probably damaging |
Het |
Clec4a1 |
T |
A |
6: 122,899,014 (GRCm39) |
C28S |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,574,360 (GRCm39) |
Y2082F |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,160,962 (GRCm39) |
T2193S |
possibly damaging |
Het |
Gm24124 |
G |
T |
19: 13,611,421 (GRCm39) |
|
probably benign |
Het |
Gpbp1l1 |
T |
A |
4: 116,444,710 (GRCm39) |
|
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Itga3 |
G |
A |
11: 94,956,712 (GRCm39) |
H122Y |
probably damaging |
Het |
Mettl18 |
T |
A |
1: 163,823,795 (GRCm39) |
S39T |
possibly damaging |
Het |
Ndst4 |
A |
T |
3: 125,355,102 (GRCm39) |
T337S |
probably benign |
Het |
Neb |
A |
G |
2: 52,160,329 (GRCm39) |
|
probably benign |
Het |
Nrbp1 |
T |
C |
5: 31,401,141 (GRCm39) |
S6P |
probably benign |
Het |
Oprk1 |
A |
G |
1: 5,669,128 (GRCm39) |
I191M |
probably damaging |
Het |
Or2a56 |
A |
T |
6: 42,933,370 (GRCm39) |
|
probably benign |
Het |
Or51k2 |
A |
G |
7: 103,596,204 (GRCm39) |
T144A |
probably benign |
Het |
Or52z13 |
A |
G |
7: 103,247,369 (GRCm39) |
N282S |
possibly damaging |
Het |
Psap |
T |
C |
10: 60,128,316 (GRCm39) |
V69A |
probably damaging |
Het |
Scn7a |
C |
T |
2: 66,514,475 (GRCm39) |
E1100K |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,014,155 (GRCm39) |
N423S |
possibly damaging |
Het |
Tpd52 |
A |
T |
3: 9,012,692 (GRCm39) |
|
probably null |
Het |
Trmt13 |
G |
A |
3: 116,383,884 (GRCm39) |
Q58* |
probably null |
Het |
Ttn |
T |
C |
2: 76,589,125 (GRCm39) |
E21346G |
probably damaging |
Het |
|
Other mutations in Helq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R0083:Helq
|
UTSW |
5 |
100,916,234 (GRCm39) |
nonsense |
probably null |
|
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 |
|
Posted On |
2013-04-17 |