Incidental Mutation 'R9152:Helq'
| ID |
695084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helq
|
| Ensembl Gene |
ENSMUSG00000035266 |
| Gene Name |
helicase, POLQ-like |
| Synonyms |
Hel308, D430018E21Rik |
| MMRRC Submission |
068939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100918325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 863
(A863D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
|
| AlphaFold |
Q2VPA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044684
AA Change: A863D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: A863D
| 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 |
unknown
Transcript: ENSMUST00000133845
AA Change: A861D
|
| SMART Domains |
Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: A861D
| 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 damaging
Transcript: ENSMUST00000155362
AA Change: A96D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120806
Gene: ENSMUSG00000035266
AA Change: A96D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
C |
A |
13: 104,613,275 (GRCm39) |
R1009S |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,609,439 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
T |
A |
13: 94,630,239 (GRCm39) |
D831E |
unknown |
Het |
| Arsa |
G |
A |
15: 89,359,995 (GRCm39) |
|
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,463 (GRCm39) |
K1066R |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,155,799 (GRCm39) |
M15T |
probably benign |
Het |
| Defb38 |
C |
T |
8: 19,076,558 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,021,457 (GRCm39) |
D323G |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,416,329 (GRCm39) |
D743E |
probably benign |
Het |
| Eif1ad11 |
T |
C |
12: 87,993,946 (GRCm39) |
L58P |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,808,352 (GRCm39) |
L268P |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 106,989,611 (GRCm39) |
R1368S |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,249,876 (GRCm39) |
G1379E |
possibly damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,539,692 (GRCm39) |
|
probably null |
Het |
| Lrit2 |
C |
T |
14: 36,794,187 (GRCm39) |
T417I |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Macroh2a1 |
CTTACCTCCAGCT |
C |
13: 56,232,004 (GRCm39) |
|
probably null |
Het |
| Mgat2 |
G |
A |
12: 69,232,497 (GRCm39) |
W357* |
probably null |
Het |
| Mlkl |
A |
G |
8: 112,046,403 (GRCm39) |
L290P |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,439 (GRCm39) |
S10T |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,114 (GRCm39) |
I203V |
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,408,448 (GRCm39) |
I135F |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,022,589 (GRCm39) |
V853A |
|
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
G |
A |
7: 116,017,004 (GRCm39) |
S251L |
probably benign |
Het |
| Prkch |
T |
C |
12: 73,738,418 (GRCm39) |
M175T |
possibly damaging |
Het |
| Psg22 |
A |
T |
7: 18,460,646 (GRCm39) |
Q425L |
probably damaging |
Het |
| Qpctl |
A |
G |
7: 18,883,025 (GRCm39) |
L29P |
probably damaging |
Het |
| Ranbp10 |
A |
T |
8: 106,499,140 (GRCm39) |
L549M |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,600,697 (GRCm39) |
E1568G |
unknown |
Het |
| Rrh |
A |
T |
3: 129,606,903 (GRCm39) |
D173E |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,877,256 (GRCm39) |
N857I |
possibly damaging |
Het |
| Selplg |
A |
G |
5: 113,957,467 (GRCm39) |
S280P |
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,287,329 (GRCm39) |
S17P |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,068 (GRCm39) |
V1775A |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,104,162 (GRCm39) |
V244G |
probably benign |
Het |
| Tex24 |
A |
C |
8: 27,835,379 (GRCm39) |
E302D |
possibly damaging |
Het |
| Trav18 |
A |
G |
14: 54,069,011 (GRCm39) |
T19A |
probably benign |
Het |
| Trim56 |
T |
C |
5: 137,143,387 (GRCm39) |
D43G |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,029,056 (GRCm39) |
T1869A |
probably damaging |
Het |
| Usp22 |
A |
G |
11: 61,049,201 (GRCm39) |
C383R |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
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 |
|
R8720:Helq
|
UTSW |
5 |
100,914,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Helq
|
UTSW |
5 |
100,926,598 (GRCm39) |
unclassified |
probably benign |
|
|
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'- ACGCTGGAATTGTGTAAAGGC -3'
(R):5'- ATCACCAGGCCAAGGAACTG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTATGTATGCCAGG -3'
(R):5'- TGGCACCACCACGTGTGTAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation