Incidental Mutation 'R8720:Helq'
ID |
670065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helq
|
Ensembl Gene |
ENSMUSG00000035266 |
Gene Name |
helicase, POLQ-like |
Synonyms |
Hel308, D430018E21Rik |
MMRRC Submission |
068571-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8720 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100914561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 977
(V977A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
|
AlphaFold |
Q2VPA6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044684
AA Change: V977A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041599 Gene: ENSMUSG00000035266 AA Change: V977A
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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3a1 |
T |
C |
11: 61,104,305 (GRCm39) |
V64A |
probably benign |
Het |
Anln |
T |
C |
9: 22,284,573 (GRCm39) |
H379R |
probably benign |
Het |
Asb2 |
A |
G |
12: 103,291,680 (GRCm39) |
Y416H |
probably damaging |
Het |
Atp2b4 |
TTCTTC |
TTCTTCGTCTTC |
1: 133,629,465 (GRCm39) |
|
probably benign |
Het |
Chsy1 |
T |
A |
7: 65,821,088 (GRCm39) |
M441K |
possibly damaging |
Het |
Cmas |
A |
G |
6: 142,716,929 (GRCm39) |
K274E |
probably damaging |
Het |
Cmip |
A |
G |
8: 118,138,010 (GRCm39) |
Y75C |
probably damaging |
Het |
Col17a1 |
T |
A |
19: 47,637,531 (GRCm39) |
|
probably benign |
Het |
Col3a1 |
A |
G |
1: 45,386,893 (GRCm39) |
Y1368C |
unknown |
Het |
Cracdl |
A |
G |
1: 37,652,522 (GRCm39) |
F1095S |
possibly damaging |
Het |
Cspg4 |
C |
T |
9: 56,794,797 (GRCm39) |
T844I |
probably benign |
Het |
Dnai7 |
G |
T |
6: 145,150,983 (GRCm39) |
R30S |
unknown |
Het |
Ect2 |
A |
T |
3: 27,169,647 (GRCm39) |
N766K |
probably damaging |
Het |
Fanci |
C |
A |
7: 79,089,425 (GRCm39) |
Q954K |
possibly damaging |
Het |
Gm30083 |
A |
G |
14: 33,736,895 (GRCm39) |
S21P |
probably benign |
Het |
Gulo |
C |
T |
14: 66,225,074 (GRCm39) |
E422K |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,389,105 (GRCm39) |
D3874G |
probably benign |
Het |
Hsf4 |
G |
T |
8: 105,996,605 (GRCm39) |
D34Y |
probably damaging |
Het |
Il18 |
G |
A |
9: 50,476,684 (GRCm39) |
|
probably benign |
Het |
Il22ra2 |
A |
T |
10: 19,508,599 (GRCm39) |
E209V |
probably damaging |
Het |
Ino80 |
A |
T |
2: 119,232,868 (GRCm39) |
L1150Q |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,691,792 (GRCm39) |
F231L |
probably damaging |
Het |
Krtap19-4 |
A |
G |
16: 88,681,846 (GRCm39) |
Y37H |
unknown |
Het |
Lama4 |
A |
T |
10: 38,971,079 (GRCm39) |
D1548V |
probably damaging |
Het |
Lrig2 |
C |
T |
3: 104,418,998 (GRCm39) |
A4T |
probably damaging |
Het |
Lrp4 |
A |
T |
2: 91,324,459 (GRCm39) |
I1265F |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,552,896 (GRCm39) |
T4466S |
probably benign |
Het |
Myo1e |
A |
G |
9: 70,204,570 (GRCm39) |
I57V |
possibly damaging |
Het |
Naip2 |
A |
T |
13: 100,298,630 (GRCm39) |
Y469N |
probably benign |
Het |
Nav1 |
G |
A |
1: 135,388,464 (GRCm39) |
R1065C |
unknown |
Het |
Nps |
C |
T |
7: 134,874,045 (GRCm39) |
R72C |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,117,681 (GRCm39) |
V1796I |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,024,667 (GRCm39) |
K451E |
probably benign |
Het |
Pigv |
A |
T |
4: 133,392,968 (GRCm39) |
D67E |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,243,688 (GRCm39) |
F928I |
probably benign |
Het |
Pkn3 |
A |
G |
2: 29,975,196 (GRCm39) |
N486D |
probably benign |
Het |
Ppp2r3d |
A |
G |
9: 101,089,084 (GRCm39) |
L413P |
probably damaging |
Het |
Rbm45 |
G |
T |
2: 76,210,711 (GRCm39) |
R414L |
probably damaging |
Het |
Sap30l |
A |
T |
11: 57,698,875 (GRCm39) |
N116I |
probably damaging |
Het |
Slc17a5 |
A |
T |
9: 78,485,945 (GRCm39) |
F47I |
probably damaging |
Het |
Slco1a7 |
A |
T |
6: 141,668,852 (GRCm39) |
S527T |
probably benign |
Het |
Srbd1 |
A |
T |
17: 86,358,571 (GRCm39) |
D659E |
probably damaging |
Het |
Sycp3 |
A |
G |
10: 88,298,394 (GRCm39) |
Q40R |
probably benign |
Het |
Trip13 |
T |
C |
13: 74,063,590 (GRCm39) |
S374G |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,208,149 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,090,715 (GRCm39) |
V449I |
probably benign |
Het |
Vmn1r211 |
A |
T |
13: 23,036,031 (GRCm39) |
V212D |
probably damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,792,194 (GRCm39) |
I21F |
possibly damaging |
Het |
Zmiz2 |
A |
T |
11: 6,349,904 (GRCm39) |
I491F |
possibly damaging |
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 |
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 |
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'- AGTCTTCACGTGGGGATCAG -3'
(R):5'- GCTGCAGCTCAGTATGTAACTTAC -3'
Sequencing Primer
(F):5'- TTCAGTCTCAGGACCAGCCAG -3'
(R):5'- GAACTCACCAAGAAGCTG -3'
|
Posted On |
2021-04-30 |