Incidental Mutation 'R0359:Helq'
| ID |
29985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helq
|
| Ensembl Gene |
ENSMUSG00000035266 |
| Gene Name |
helicase, POLQ-like |
| Synonyms |
Hel308, D430018E21Rik |
| MMRRC Submission |
038565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100938066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 460
(N460S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
[ENSMUST00000151201]
|
| AlphaFold |
Q2VPA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044684
AA Change: N460S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: N460S
| 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: N458S
|
| SMART Domains |
Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: N458S
| 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: ENSMUST00000144948
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151201
|
| SMART Domains |
Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198409
|
| Meta Mutation Damage Score |
0.0596 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,181 (GRCm39) |
Y255* |
probably null |
Het |
| 2310003L06Rik |
A |
T |
5: 88,112,455 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,904,067 (GRCm39) |
S213P |
probably damaging |
Het |
| Agpat1 |
A |
G |
17: 34,829,551 (GRCm39) |
I42V |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| BB014433 |
G |
T |
8: 15,092,540 (GRCm39) |
C104* |
probably null |
Het |
| Bsn |
C |
T |
9: 107,989,045 (GRCm39) |
G2236S |
possibly damaging |
Het |
| Casp9 |
A |
G |
4: 141,521,221 (GRCm39) |
E19G |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,163 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,959,760 (GRCm39) |
M797L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,271,264 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,232,964 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
A |
9: 105,874,345 (GRCm39) |
H2214L |
probably benign |
Het |
| Ctu2 |
T |
G |
8: 123,204,932 (GRCm39) |
S72R |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,333,619 (GRCm39) |
M245L |
possibly damaging |
Het |
| Dgkb |
T |
A |
12: 38,266,030 (GRCm39) |
V503E |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,206,938 (GRCm39) |
R501G |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,109,874 (GRCm39) |
D1453G |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,420,357 (GRCm39) |
T119M |
probably benign |
Het |
| F5 |
T |
G |
1: 164,007,018 (GRCm39) |
V274G |
probably damaging |
Het |
| Farp1 |
A |
T |
14: 121,492,808 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
C |
8: 111,619,891 (GRCm39) |
|
probably null |
Het |
| Foxf1 |
T |
C |
8: 121,811,742 (GRCm39) |
V202A |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,910,449 (GRCm39) |
V3293I |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,032 (GRCm39) |
G602D |
probably damaging |
Het |
| Gclm |
T |
C |
3: 122,049,269 (GRCm39) |
|
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,988 (GRCm39) |
T591M |
probably benign |
Het |
| Glrx3 |
T |
C |
7: 137,055,214 (GRCm39) |
S119P |
possibly damaging |
Het |
| Gm16485 |
G |
T |
9: 8,972,437 (GRCm39) |
|
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,108,266 (GRCm39) |
|
probably null |
Het |
| Kpna2 |
A |
G |
11: 106,882,148 (GRCm39) |
L226S |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,454 (GRCm39) |
V448M |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,536,580 (GRCm39) |
S1224P |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,521 (GRCm39) |
F105I |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,721 (GRCm39) |
D94N |
probably benign |
Het |
| Or7a38 |
A |
G |
10: 78,753,177 (GRCm39) |
T168A |
probably benign |
Het |
| Plag1 |
C |
T |
4: 3,904,546 (GRCm39) |
C215Y |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Pot1a |
G |
A |
6: 25,771,679 (GRCm39) |
|
probably benign |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Ppp1r1a |
T |
A |
15: 103,441,915 (GRCm39) |
D51V |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,973,175 (GRCm39) |
|
probably benign |
Het |
| Rad51ap1 |
A |
T |
6: 126,911,704 (GRCm39) |
V61D |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,798 (GRCm39) |
L605F |
probably damaging |
Het |
| Riok3 |
T |
C |
18: 12,282,006 (GRCm39) |
I325T |
probably damaging |
Het |
| Sclt1 |
A |
T |
3: 41,616,005 (GRCm39) |
|
probably null |
Het |
| Slc25a39 |
A |
G |
11: 102,297,395 (GRCm39) |
V24A |
possibly damaging |
Het |
| Slc9a3 |
T |
G |
13: 74,305,726 (GRCm39) |
S248A |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,394,422 (GRCm39) |
C369S |
probably benign |
Het |
| Spen |
T |
C |
4: 141,244,181 (GRCm39) |
S285G |
unknown |
Het |
| Stxbp5l |
A |
G |
16: 37,036,440 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,352,030 (GRCm39) |
P1055L |
probably damaging |
Het |
| Tmed3 |
C |
T |
9: 89,581,842 (GRCm39) |
S207N |
possibly damaging |
Het |
| Trerf1 |
G |
T |
17: 47,652,062 (GRCm39) |
|
noncoding transcript |
Het |
| Triml1 |
A |
T |
8: 43,583,542 (GRCm39) |
V353E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,549,401 (GRCm39) |
R31759C |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,398,443 (GRCm39) |
Q331R |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,588,048 (GRCm39) |
I420T |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,201 (GRCm39) |
L299Q |
probably damaging |
Het |
| Vmn1r81 |
T |
A |
7: 11,993,877 (GRCm39) |
T244S |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,618,941 (GRCm39) |
F2875S |
probably damaging |
Het |
| Wscd1 |
A |
G |
11: 71,657,692 (GRCm39) |
M166V |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,313,864 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,013,689 (GRCm39) |
H737R |
probably 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 |
|
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'- CATGGGAGCCATGCTAACTGTCTG -3'
(R):5'- CATTTGATGGGGTACAGTGAGAGCAC -3'
Sequencing Primer
(F):5'- gctaactgtctgtgctgctc -3'
(R):5'- GTCCCAAATGTGAAACATTTCTGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation