Incidental Mutation 'R3086:Helq'
| ID |
265631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helq
|
| Ensembl Gene |
ENSMUSG00000035266 |
| Gene Name |
helicase, POLQ-like |
| Synonyms |
Hel308, D430018E21Rik |
| MMRRC Submission |
040575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100921858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 782
(L782S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
|
| AlphaFold |
Q2VPA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044684
AA Change: L782S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: L782S
| 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: L780S
|
| SMART Domains |
Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: L780S
| 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: ENSMUST00000152554
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155362
AA Change: L15S
|
| SMART Domains |
Protein: ENSMUSP00000120806
Gene: ENSMUSG00000035266
AA Change: L15S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
T |
C |
17: 47,083,881 (GRCm39) |
L48P |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,170,733 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,655,122 (GRCm39) |
R3223G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,065,852 (GRCm39) |
D3483G |
possibly damaging |
Het |
| Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
| Ces2b |
A |
T |
8: 105,559,401 (GRCm39) |
D89V |
possibly damaging |
Het |
| Dhrs2 |
G |
T |
14: 55,477,301 (GRCm39) |
V179L |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,216,258 (GRCm39) |
T595A |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,510,074 (GRCm39) |
N1585D |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,781,862 (GRCm39) |
I689T |
probably benign |
Het |
| Fgfr4 |
G |
T |
13: 55,315,205 (GRCm39) |
|
probably benign |
Het |
| Frk |
G |
A |
10: 34,483,950 (GRCm39) |
G437D |
probably damaging |
Het |
| Frzb |
T |
G |
2: 80,248,858 (GRCm39) |
I199L |
possibly damaging |
Het |
| Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,907,115 (GRCm39) |
F128S |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,551,452 (GRCm39) |
F725L |
probably benign |
Het |
| Lekr1 |
A |
G |
3: 65,634,581 (GRCm39) |
|
noncoding transcript |
Het |
| Macf1 |
T |
A |
4: 123,328,901 (GRCm39) |
M2490L |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,396 (GRCm39) |
Y342C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,437,812 (GRCm39) |
C2057R |
probably damaging |
Het |
| Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
| Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,407,276 (GRCm39) |
G251S |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdha1 |
G |
C |
18: 37,064,001 (GRCm39) |
E222Q |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,098,777 (GRCm39) |
D1427V |
possibly damaging |
Het |
| Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
| Rsph4a |
G |
C |
10: 33,785,198 (GRCm39) |
V370L |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,443,093 (GRCm39) |
S33T |
probably benign |
Het |
| Stk-ps2 |
A |
C |
1: 46,068,236 (GRCm39) |
|
noncoding transcript |
Het |
| Tep1 |
A |
T |
14: 51,064,511 (GRCm39) |
|
probably null |
Het |
| Tet1 |
T |
C |
10: 62,715,400 (GRCm39) |
K132E |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,471,857 (GRCm39) |
K500E |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,839,046 (GRCm39) |
R635S |
probably benign |
Het |
| Tmem68 |
T |
C |
4: 3,569,594 (GRCm39) |
E32G |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
| Zfp780b |
A |
G |
7: 27,663,055 (GRCm39) |
I500T |
probably damaging |
Het |
| Zfyve26 |
G |
T |
12: 79,312,457 (GRCm39) |
|
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 |
|
|
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'- CAACTTCTGAAAGCGGACATAGC -3'
(R):5'- GATGAACTAAGTCCCAGTGATGTC -3'
Sequencing Primer
(F):5'- TCTGAAAGCGGACATAGCTCGTAAG -3'
(R):5'- AAGTCCCAGTGATGTCCTGAATTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation