Incidental Mutation 'R8058:Helb'
ID |
619556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helb
|
Ensembl Gene |
ENSMUSG00000020228 |
Gene Name |
helicase (DNA) B |
Synonyms |
D10Ertd664e |
MMRRC Submission |
067495-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R8058 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119941483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 402
(S402P)
|
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: S402P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020449 Gene: ENSMUSG00000020228 AA Change: S402P
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: S402P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116954 Gene: ENSMUSG00000020228 AA Change: S402P
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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
C |
T |
4: 53,081,954 (GRCm39) |
D769N |
possibly damaging |
Het |
Abcb6 |
A |
G |
1: 75,156,653 (GRCm39) |
L37P |
possibly damaging |
Het |
Abcg1 |
G |
T |
17: 31,324,504 (GRCm39) |
A250S |
probably benign |
Het |
Acsf3 |
C |
T |
8: 123,540,373 (GRCm39) |
H524Y |
possibly damaging |
Het |
Agbl4 |
A |
G |
4: 110,518,039 (GRCm39) |
K110R |
unknown |
Het |
Arfgap2 |
G |
A |
2: 91,096,644 (GRCm39) |
|
probably null |
Het |
B4galt4 |
T |
C |
16: 38,586,383 (GRCm39) |
|
probably null |
Het |
Bex6 |
G |
T |
16: 32,005,224 (GRCm39) |
D11Y |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
C8b |
A |
T |
4: 104,647,811 (GRCm39) |
D334V |
probably damaging |
Het |
Capn11 |
T |
C |
17: 45,954,681 (GRCm39) |
Q152R |
probably null |
Het |
Ccdc171 |
C |
A |
4: 83,499,003 (GRCm39) |
Q234K |
probably damaging |
Het |
Cemip2 |
C |
A |
19: 21,829,695 (GRCm39) |
A1268E |
probably benign |
Het |
Clec2h |
A |
G |
6: 128,650,966 (GRCm39) |
D82G |
probably benign |
Het |
Creld2 |
A |
G |
15: 88,710,632 (GRCm39) |
D349G |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 103,979,128 (GRCm39) |
*1415Q |
probably null |
Het |
Dnmt3a |
T |
C |
12: 3,952,768 (GRCm39) |
V755A |
possibly damaging |
Het |
Doc2a |
G |
T |
7: 126,450,164 (GRCm39) |
V201L |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbn1 |
G |
T |
2: 125,193,889 (GRCm39) |
D1359E |
possibly damaging |
Het |
Fcnb |
T |
C |
2: 27,969,707 (GRCm39) |
Y120C |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,842,778 (GRCm39) |
D1665E |
probably benign |
Het |
Fry |
A |
T |
5: 150,419,232 (GRCm39) |
D524V |
|
Het |
Garem1 |
A |
G |
18: 21,281,621 (GRCm39) |
L245P |
probably damaging |
Het |
Gdf6 |
A |
G |
4: 9,859,712 (GRCm39) |
S265G |
probably benign |
Het |
Gm5591 |
T |
C |
7: 38,218,363 (GRCm39) |
I837V |
probably benign |
Het |
Gpr61 |
T |
C |
3: 108,058,211 (GRCm39) |
Y150C |
probably damaging |
Het |
Grin2b |
A |
T |
6: 135,710,225 (GRCm39) |
L1107Q |
probably damaging |
Het |
Htt |
A |
G |
5: 34,977,444 (GRCm39) |
T777A |
probably benign |
Het |
Iffo2 |
A |
G |
4: 139,341,164 (GRCm39) |
D383G |
probably benign |
Het |
Ikzf3 |
G |
T |
11: 98,407,753 (GRCm39) |
Y29* |
probably null |
Het |
Ints2 |
A |
T |
11: 86,146,179 (GRCm39) |
M143K |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,090,274 (GRCm39) |
V2292A |
not run |
Het |
Katnip |
A |
G |
7: 125,442,188 (GRCm39) |
E725G |
probably benign |
Het |
Lamb1 |
C |
A |
12: 31,353,046 (GRCm39) |
Q916K |
probably benign |
Het |
Lrrtm4 |
G |
A |
6: 79,999,528 (GRCm39) |
M313I |
probably benign |
Het |
Lum |
A |
G |
10: 97,404,425 (GRCm39) |
I107V |
probably benign |
Het |
Ly6h |
T |
C |
15: 75,437,061 (GRCm39) |
E126G |
probably benign |
Het |
Map3k5 |
G |
A |
10: 20,007,860 (GRCm39) |
V1230M |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,558,378 (GRCm39) |
F211L |
probably benign |
Het |
Mink1 |
G |
A |
11: 70,494,594 (GRCm39) |
W258* |
probably null |
Het |
Muc16 |
G |
T |
9: 18,571,298 (GRCm39) |
S407* |
probably null |
Het |
Ngef |
G |
A |
1: 87,473,744 (GRCm39) |
Q13* |
probably null |
Het |
Nxpe5 |
T |
A |
5: 138,237,573 (GRCm39) |
Y44* |
probably null |
Het |
Or13d1 |
T |
A |
4: 52,971,106 (GRCm39) |
L162M |
probably benign |
Het |
Or4a77 |
A |
G |
2: 89,487,671 (GRCm39) |
V38A |
probably benign |
Het |
Or5t9 |
A |
G |
2: 86,660,052 (GRCm39) |
R319G |
probably benign |
Het |
Or7e178 |
T |
A |
9: 20,225,476 (GRCm39) |
I247F |
probably damaging |
Het |
Or8g24 |
A |
T |
9: 38,989,862 (GRCm39) |
Y60N |
probably damaging |
Het |
Or8h8 |
C |
A |
2: 86,753,151 (GRCm39) |
A242S |
probably benign |
Het |
Orc3 |
C |
A |
4: 34,595,223 (GRCm39) |
E249* |
probably null |
Het |
Otogl |
A |
T |
10: 107,598,287 (GRCm39) |
C2288S |
probably damaging |
Het |
Pde1b |
A |
G |
15: 103,433,238 (GRCm39) |
E249G |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,976,558 (GRCm39) |
E219G |
unknown |
Het |
Rbm19 |
T |
A |
5: 120,278,440 (GRCm39) |
|
probably null |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
Selenoo |
T |
C |
15: 88,976,942 (GRCm39) |
I198T |
possibly damaging |
Het |
Sema3f |
T |
C |
9: 107,559,800 (GRCm39) |
E729G |
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,269,293 (GRCm39) |
T9S |
probably benign |
Het |
Sfxn4 |
T |
C |
19: 60,832,690 (GRCm39) |
T235A |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,491,154 (GRCm39) |
Y461* |
probably null |
Het |
Slc22a15 |
T |
C |
3: 101,771,926 (GRCm39) |
D391G |
probably benign |
Het |
Slc22a23 |
G |
T |
13: 34,489,167 (GRCm39) |
Y239* |
probably null |
Het |
Slc24a2 |
G |
A |
4: 86,909,750 (GRCm39) |
A656V |
probably damaging |
Het |
Slc2a5 |
A |
T |
4: 150,227,590 (GRCm39) |
I470F |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,063,694 (GRCm39) |
E2249G |
possibly damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,753 (GRCm39) |
Q295L |
probably benign |
Het |
Tdrd7 |
C |
A |
4: 46,034,309 (GRCm39) |
S1051R |
probably benign |
Het |
Tnfrsf18 |
G |
A |
4: 156,112,802 (GRCm39) |
A163T |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,544,846 (GRCm39) |
V596A |
possibly damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,149,955 (GRCm39) |
N363I |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,440,956 (GRCm39) |
I301F |
probably damaging |
Het |
Yod1 |
C |
T |
1: 130,646,806 (GRCm39) |
Q228* |
probably null |
Het |
Zfp433 |
A |
T |
10: 81,556,124 (GRCm39) |
K209* |
probably null |
Het |
Zfp865 |
G |
A |
7: 5,033,445 (GRCm39) |
V477I |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,081,421 (GRCm39) |
Y484N |
probably benign |
Het |
Zfp951 |
T |
G |
5: 104,962,312 (GRCm39) |
H418P |
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 |
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 |
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 |
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'- GCTAACAATGGTGGTCTTCCC -3'
(R):5'- TGAAGGACATTGACGTGGTC -3'
Sequencing Primer
(F):5'- TGGTCTTCCCACAGCCG -3'
(R):5'- TCTTTCTGAACTGTACGAGGCCG -3'
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Posted On |
2020-01-23 |