Incidental Mutation 'R7114:Helb'
ID |
551692 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helb
|
Ensembl Gene |
ENSMUSG00000020228 |
Gene Name |
helicase (DNA) B |
Synonyms |
D10Ertd664e |
MMRRC Submission |
045244-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R7114 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119941161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 509
(V509E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020449]
[ENSMUST00000154501]
|
AlphaFold |
Q6NVF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020449
AA Change: V509E
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000020449 Gene: ENSMUSG00000020228 AA Change: V509E
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
43 |
N/A |
INTRINSIC |
Pfam:AAA_30
|
434 |
661 |
4.8e-24 |
PFAM |
Pfam:UvrD_C_2
|
855 |
901 |
2.3e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154501
AA Change: V509E
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116954 Gene: ENSMUSG00000020228 AA Change: V509E
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
43 |
N/A |
INTRINSIC |
Pfam:AAA_30
|
434 |
546 |
1.2e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (59/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] PHENOTYPE: Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,900,445 (GRCm39) |
A1291T |
probably benign |
Het |
Anks1b |
G |
A |
10: 90,143,560 (GRCm39) |
R523Q |
probably damaging |
Het |
Arhgap12 |
T |
A |
18: 6,028,056 (GRCm39) |
I690F |
probably damaging |
Het |
Caln1 |
T |
C |
5: 130,868,124 (GRCm39) |
V220A |
possibly damaging |
Het |
Cd79b |
T |
A |
11: 106,202,713 (GRCm39) |
T263S |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,379,220 (GRCm39) |
K67N |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
Col25a1 |
A |
G |
3: 130,389,324 (GRCm39) |
I636V |
probably benign |
Het |
Col9a3 |
C |
T |
2: 180,245,590 (GRCm39) |
P154S |
unknown |
Het |
Cyp3a11 |
T |
A |
5: 145,795,593 (GRCm39) |
M453L |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Eno1b |
T |
C |
18: 48,180,560 (GRCm39) |
V246A |
possibly damaging |
Het |
Eogt |
T |
C |
6: 97,092,965 (GRCm39) |
Y404C |
probably damaging |
Het |
Ephx3 |
T |
A |
17: 32,404,006 (GRCm39) |
E380V |
possibly damaging |
Het |
Fancl |
T |
C |
11: 26,357,615 (GRCm39) |
L114P |
probably damaging |
Het |
Flad1 |
C |
T |
3: 89,314,837 (GRCm39) |
G287S |
probably benign |
Het |
Gcm1 |
G |
T |
9: 77,967,061 (GRCm39) |
K93N |
probably damaging |
Het |
Golga3 |
T |
A |
5: 110,350,578 (GRCm39) |
D704E |
probably benign |
Het |
Grb14 |
A |
C |
2: 64,747,197 (GRCm39) |
I451S |
probably damaging |
Het |
Gtf3c3 |
T |
C |
1: 54,462,666 (GRCm39) |
N366D |
probably benign |
Het |
Hecw1 |
A |
T |
13: 14,486,356 (GRCm39) |
H376Q |
probably benign |
Het |
Hephl1 |
C |
T |
9: 14,981,111 (GRCm39) |
E774K |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,229,622 (GRCm39) |
E685G |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,894,519 (GRCm39) |
T2016A |
probably benign |
Het |
Igkv5-43 |
T |
G |
6: 69,800,515 (GRCm39) |
Q57H |
probably damaging |
Het |
Lamc3 |
T |
A |
2: 31,820,657 (GRCm39) |
V1224E |
probably damaging |
Het |
Lgals3bp |
C |
T |
11: 118,284,309 (GRCm39) |
W423* |
probably null |
Het |
Mcm9 |
G |
A |
10: 53,414,669 (GRCm39) |
T137I |
possibly damaging |
Het |
Mdga1 |
C |
A |
17: 30,061,816 (GRCm39) |
|
probably null |
Het |
Mocos |
C |
T |
18: 24,799,572 (GRCm39) |
P269S |
probably damaging |
Het |
Naa40 |
A |
G |
19: 7,207,322 (GRCm39) |
V134A |
probably damaging |
Het |
Neb |
G |
A |
2: 52,082,571 (GRCm39) |
L5680F |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,492,099 (GRCm39) |
V137A |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,642,112 (GRCm39) |
I784V |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,915,256 (GRCm39) |
S1147P |
possibly damaging |
Het |
Or10x4 |
A |
T |
1: 174,218,805 (GRCm39) |
M57L |
probably damaging |
Het |
Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
Plcb4 |
T |
A |
2: 135,824,043 (GRCm39) |
|
probably null |
Het |
Pomt1 |
C |
T |
2: 32,143,848 (GRCm39) |
T671I |
probably benign |
Het |
Pomt2 |
G |
T |
12: 87,157,150 (GRCm39) |
P723H |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,394,181 (GRCm39) |
Y1741* |
probably null |
Het |
Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
Slc36a4 |
T |
C |
9: 15,633,250 (GRCm39) |
F95L |
probably benign |
Het |
Smn1 |
C |
T |
13: 100,267,648 (GRCm39) |
P225S |
probably benign |
Het |
Snrpa |
A |
T |
7: 26,891,174 (GRCm39) |
I99N |
probably benign |
Het |
Tgm5 |
G |
T |
2: 120,878,977 (GRCm39) |
Y588* |
probably null |
Het |
Tmeff2 |
T |
A |
1: 51,224,404 (GRCm39) |
|
probably null |
Het |
Tmem120b |
T |
C |
5: 123,254,741 (GRCm39) |
F314S |
probably damaging |
Het |
Trim43b |
C |
T |
9: 88,967,661 (GRCm39) |
R325H |
probably benign |
Het |
Vmn1r26 |
C |
T |
6: 57,985,755 (GRCm39) |
A145T |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,693,531 (GRCm39) |
|
probably null |
Het |
Wnt5a |
C |
A |
14: 28,244,713 (GRCm39) |
T320K |
probably damaging |
Het |
Wrn |
AGCAGGTAATACATACCG |
AG |
8: 33,775,149 (GRCm39) |
|
probably null |
Het |
Zfp398 |
T |
C |
6: 47,842,910 (GRCm39) |
S321P |
probably benign |
Het |
Zfp959 |
T |
A |
17: 56,205,501 (GRCm39) |
C513S |
possibly damaging |
Het |
Zfr2 |
A |
G |
10: 81,080,559 (GRCm39) |
D411G |
probably damaging |
Het |
Zkscan5 |
T |
A |
5: 145,147,988 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Helb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Helb
|
APN |
10 |
119,934,150 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00516:Helb
|
APN |
10 |
119,941,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00924:Helb
|
APN |
10 |
119,946,889 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00971:Helb
|
APN |
10 |
119,930,168 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01142:Helb
|
APN |
10 |
119,947,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01483:Helb
|
APN |
10 |
119,947,043 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01688:Helb
|
APN |
10 |
119,944,885 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01860:Helb
|
APN |
10 |
119,938,738 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02298:Helb
|
APN |
10 |
119,937,431 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02501:Helb
|
APN |
10 |
119,938,693 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02554:Helb
|
APN |
10 |
119,925,617 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Helb
|
APN |
10 |
119,927,608 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02902:Helb
|
APN |
10 |
119,925,390 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03405:Helb
|
APN |
10 |
119,925,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Helb
|
UTSW |
10 |
119,944,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Helb
|
UTSW |
10 |
119,925,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R0436:Helb
|
UTSW |
10 |
119,930,117 (GRCm39) |
splice site |
probably benign |
|
R0850:Helb
|
UTSW |
10 |
119,941,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R1423:Helb
|
UTSW |
10 |
119,944,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R1663:Helb
|
UTSW |
10 |
119,941,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Helb
|
UTSW |
10 |
119,930,147 (GRCm39) |
missense |
probably damaging |
0.96 |
R1812:Helb
|
UTSW |
10 |
119,925,471 (GRCm39) |
nonsense |
probably null |
|
R1976:Helb
|
UTSW |
10 |
119,930,168 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2049:Helb
|
UTSW |
10 |
119,941,926 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2063:Helb
|
UTSW |
10 |
119,941,671 (GRCm39) |
missense |
probably benign |
|
R2141:Helb
|
UTSW |
10 |
119,941,926 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2180:Helb
|
UTSW |
10 |
119,941,353 (GRCm39) |
missense |
probably benign |
0.02 |
R2432:Helb
|
UTSW |
10 |
119,941,442 (GRCm39) |
missense |
probably benign |
0.01 |
R3030:Helb
|
UTSW |
10 |
119,925,487 (GRCm39) |
nonsense |
probably null |
|
R3874:Helb
|
UTSW |
10 |
119,941,942 (GRCm39) |
missense |
probably benign |
0.31 |
R3978:Helb
|
UTSW |
10 |
119,925,530 (GRCm39) |
missense |
probably benign |
|
R4731:Helb
|
UTSW |
10 |
119,930,193 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4734:Helb
|
UTSW |
10 |
119,920,754 (GRCm39) |
missense |
probably benign |
|
R4748:Helb
|
UTSW |
10 |
119,920,754 (GRCm39) |
missense |
probably benign |
|
R4749:Helb
|
UTSW |
10 |
119,920,754 (GRCm39) |
missense |
probably benign |
|
R4840:Helb
|
UTSW |
10 |
119,920,763 (GRCm39) |
missense |
probably benign |
0.33 |
R4977:Helb
|
UTSW |
10 |
119,946,786 (GRCm39) |
missense |
probably benign |
0.01 |
R5149:Helb
|
UTSW |
10 |
119,941,648 (GRCm39) |
missense |
probably benign |
0.39 |
R5220:Helb
|
UTSW |
10 |
119,937,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:Helb
|
UTSW |
10 |
119,938,806 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5637:Helb
|
UTSW |
10 |
119,941,353 (GRCm39) |
missense |
probably benign |
0.02 |
R5660:Helb
|
UTSW |
10 |
119,946,984 (GRCm39) |
nonsense |
probably null |
|
R5663:Helb
|
UTSW |
10 |
119,941,698 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5806:Helb
|
UTSW |
10 |
119,928,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R5951:Helb
|
UTSW |
10 |
119,927,653 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6010:Helb
|
UTSW |
10 |
119,941,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R6183:Helb
|
UTSW |
10 |
119,948,903 (GRCm39) |
splice site |
probably null |
|
R6578:Helb
|
UTSW |
10 |
119,947,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6642:Helb
|
UTSW |
10 |
119,920,835 (GRCm39) |
missense |
probably benign |
0.17 |
R6666:Helb
|
UTSW |
10 |
119,920,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R6705:Helb
|
UTSW |
10 |
119,925,716 (GRCm39) |
splice site |
probably null |
|
R6746:Helb
|
UTSW |
10 |
119,941,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R7396:Helb
|
UTSW |
10 |
119,925,476 (GRCm39) |
missense |
probably benign |
|
R7422:Helb
|
UTSW |
10 |
119,944,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R7508:Helb
|
UTSW |
10 |
119,941,188 (GRCm39) |
missense |
probably benign |
0.04 |
R7509:Helb
|
UTSW |
10 |
119,925,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R7746:Helb
|
UTSW |
10 |
119,931,007 (GRCm39) |
missense |
probably null |
1.00 |
R8058:Helb
|
UTSW |
10 |
119,941,483 (GRCm39) |
missense |
probably benign |
0.00 |
R8074:Helb
|
UTSW |
10 |
119,925,321 (GRCm39) |
missense |
probably benign |
0.00 |
R8348:Helb
|
UTSW |
10 |
119,938,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Helb
|
UTSW |
10 |
119,927,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Helb
|
UTSW |
10 |
119,938,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R8710:Helb
|
UTSW |
10 |
119,941,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R8751:Helb
|
UTSW |
10 |
119,925,412 (GRCm39) |
missense |
probably benign |
0.01 |
R8815:Helb
|
UTSW |
10 |
119,948,692 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8822:Helb
|
UTSW |
10 |
119,941,389 (GRCm39) |
missense |
probably benign |
0.01 |
R9031:Helb
|
UTSW |
10 |
119,920,790 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9340:Helb
|
UTSW |
10 |
119,928,556 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Helb
|
UTSW |
10 |
119,928,595 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGATTACTTCTGGACAAGGAGC -3'
(R):5'- TGGATCAAGATCAGGTGGTCG -3'
Sequencing Primer
(F):5'- CTTCTGGACAAGGAGCAAAAGATGTC -3'
(R):5'- AACGCGGTGACTGTCCTCAG -3'
|
Posted On |
2019-05-15 |