Incidental Mutation 'R2180:Helb'
ID |
237137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helb
|
Ensembl Gene |
ENSMUSG00000020228 |
Gene Name |
helicase (DNA) B |
Synonyms |
D10Ertd664e |
MMRRC Submission |
040182-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R2180 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119941353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 445
(T445M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020449]
[ENSMUST00000154501]
|
AlphaFold |
Q6NVF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020449
AA Change: T445M
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000020449 Gene: ENSMUSG00000020228 AA Change: T445M
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 |
probably benign
Transcript: ENSMUST00000154501
AA Change: T445M
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000116954 Gene: ENSMUSG00000020228 AA Change: T445M
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
T |
C |
16: 85,684,812 (GRCm39) |
D377G |
probably damaging |
Het |
Adgrl4 |
A |
T |
3: 151,205,779 (GRCm39) |
I164F |
probably damaging |
Het |
Anxa9 |
T |
C |
3: 95,213,735 (GRCm39) |
|
probably null |
Het |
Aox4 |
A |
T |
1: 58,252,226 (GRCm39) |
T34S |
probably benign |
Het |
Asic1 |
G |
T |
15: 99,569,846 (GRCm39) |
V56F |
probably benign |
Het |
Atpaf1 |
T |
C |
4: 115,645,557 (GRCm39) |
M1T |
probably null |
Het |
Axin1 |
A |
G |
17: 26,362,309 (GRCm39) |
T218A |
probably benign |
Het |
Bdp1 |
ATTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTC |
13: 100,197,913 (GRCm39) |
|
probably benign |
Het |
Birc6 |
T |
C |
17: 74,919,146 (GRCm39) |
I1988T |
probably benign |
Het |
Btbd7 |
A |
T |
12: 102,752,156 (GRCm39) |
D869E |
probably damaging |
Het |
Caln1 |
T |
C |
5: 130,868,249 (GRCm39) |
*220Q |
probably null |
Het |
Ccdc150 |
G |
A |
1: 54,311,706 (GRCm39) |
|
probably null |
Het |
Ccnt1 |
A |
T |
15: 98,441,481 (GRCm39) |
S596T |
possibly damaging |
Het |
Cd44 |
C |
T |
2: 102,658,955 (GRCm39) |
G640E |
possibly damaging |
Het |
Cep192 |
A |
G |
18: 67,957,813 (GRCm39) |
E582G |
possibly damaging |
Het |
Clcnkb |
G |
T |
4: 141,136,819 (GRCm39) |
|
probably null |
Het |
Dhx29 |
T |
C |
13: 113,099,406 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
C |
17: 31,059,621 (GRCm39) |
F4407S |
probably benign |
Het |
Enah |
A |
T |
1: 181,746,024 (GRCm39) |
M419K |
probably damaging |
Het |
Fancd2 |
A |
T |
6: 113,551,598 (GRCm39) |
T1055S |
probably benign |
Het |
Gigyf2 |
G |
A |
1: 87,344,642 (GRCm39) |
G525D |
probably damaging |
Het |
Gm5800 |
T |
A |
14: 51,953,451 (GRCm39) |
K55* |
probably null |
Het |
Gpr149 |
A |
G |
3: 62,511,489 (GRCm39) |
L170P |
probably damaging |
Het |
Grik4 |
A |
T |
9: 42,453,301 (GRCm39) |
Y695N |
probably benign |
Het |
Gsg1 |
A |
T |
6: 135,217,143 (GRCm39) |
V228D |
probably damaging |
Het |
Helz2 |
A |
T |
2: 180,875,525 (GRCm39) |
D1656E |
probably damaging |
Het |
Hyou1 |
A |
T |
9: 44,299,316 (GRCm39) |
K669M |
probably benign |
Het |
Itga2 |
T |
C |
13: 114,985,917 (GRCm39) |
N953D |
possibly damaging |
Het |
Ldhd |
T |
C |
8: 112,356,018 (GRCm39) |
I122V |
probably benign |
Het |
Lrrtm1 |
A |
G |
6: 77,221,329 (GRCm39) |
D262G |
probably damaging |
Het |
Mapkapk5 |
T |
C |
5: 121,673,927 (GRCm39) |
|
probably null |
Het |
Msantd5l |
C |
A |
11: 51,145,437 (GRCm39) |
W50L |
probably damaging |
Het |
Niban1 |
A |
T |
1: 151,593,829 (GRCm39) |
H838L |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,649,197 (GRCm39) |
I976T |
probably benign |
Het |
Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
Or2a12 |
C |
T |
6: 42,904,459 (GRCm39) |
T98I |
probably benign |
Het |
Or4f14b |
A |
G |
2: 111,775,348 (GRCm39) |
V151A |
probably benign |
Het |
Or52e4 |
T |
C |
7: 104,706,092 (GRCm39) |
I213T |
probably benign |
Het |
Patj |
G |
A |
4: 98,411,739 (GRCm39) |
|
probably null |
Het |
Pfas |
T |
C |
11: 68,883,013 (GRCm39) |
D757G |
possibly damaging |
Het |
Pom121l2 |
A |
G |
13: 22,166,145 (GRCm39) |
N139D |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 101,004,214 (GRCm39) |
Y994* |
probably null |
Het |
Ppp6c |
T |
C |
2: 39,087,525 (GRCm39) |
D227G |
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,717,424 (GRCm39) |
H1855Q |
probably damaging |
Het |
Ptprh |
T |
A |
7: 4,604,867 (GRCm39) |
Q59L |
probably benign |
Het |
Rap1gap2 |
T |
C |
11: 74,283,972 (GRCm39) |
K669E |
probably benign |
Het |
Rbl2 |
T |
C |
8: 91,816,683 (GRCm39) |
S348P |
possibly damaging |
Het |
Rptor |
T |
A |
11: 119,615,970 (GRCm39) |
N161K |
probably damaging |
Het |
Satb1 |
C |
T |
17: 52,110,524 (GRCm39) |
A192T |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,345,117 (GRCm39) |
V1083A |
probably benign |
Het |
Sec14l2 |
C |
T |
11: 4,058,964 (GRCm39) |
A194T |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,862,583 (GRCm39) |
N53S |
probably benign |
Het |
Sin3b |
T |
A |
8: 73,479,923 (GRCm39) |
Y876* |
probably null |
Het |
Smchd1 |
C |
A |
17: 71,770,794 (GRCm39) |
M129I |
probably benign |
Het |
Spmip6 |
T |
A |
4: 41,507,170 (GRCm39) |
M209L |
probably benign |
Het |
Tmc1 |
T |
C |
19: 20,801,448 (GRCm39) |
Y484C |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,656,801 (GRCm39) |
S135P |
probably damaging |
Het |
Zfp266 |
A |
T |
9: 20,410,975 (GRCm39) |
C401S |
probably damaging |
Het |
Zfp738 |
G |
A |
13: 67,819,313 (GRCm39) |
T226I |
probably damaging |
Het |
Zfp871 |
G |
A |
17: 32,994,275 (GRCm39) |
T300M |
probably damaging |
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 |
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 |
R7114:Helb
|
UTSW |
10 |
119,941,161 (GRCm39) |
missense |
probably benign |
0.09 |
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'- GCTCTGCTTAGGACAGTCAAGC -3'
(R):5'- GAACGTCCTGGCGTCAATTAG -3'
Sequencing Primer
(F):5'- AGTCAAGCCACTCTTCTGAGG -3'
(R):5'- CCAACGATCCAGGAAGTGCTG -3'
|
Posted On |
2014-10-02 |