Incidental Mutation 'R2432:Helb'
ID |
250457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helb
|
Ensembl Gene |
ENSMUSG00000020228 |
Gene Name |
helicase (DNA) B |
Synonyms |
D10Ertd664e |
MMRRC Submission |
040393-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R2432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119941442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 415
(D415E)
|
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: D415E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020449 Gene: ENSMUSG00000020228 AA Change: D415E
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: D415E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000116954 Gene: ENSMUSG00000020228 AA Change: D415E
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
43 |
N/A |
INTRINSIC |
Pfam:AAA_30
|
434 |
546 |
1.2e-8 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (53/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,401,333 (GRCm39) |
|
probably benign |
Het |
Adamts6 |
A |
T |
13: 104,563,485 (GRCm39) |
Y659F |
probably benign |
Het |
Adamts9 |
C |
A |
6: 92,834,881 (GRCm39) |
G750W |
probably damaging |
Het |
Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
Aspscr1 |
A |
G |
11: 120,593,392 (GRCm39) |
|
probably benign |
Het |
Calr3 |
A |
G |
8: 73,192,270 (GRCm39) |
|
probably benign |
Het |
Cpt2 |
A |
T |
4: 107,761,723 (GRCm39) |
Y126* |
probably null |
Het |
Cyp2d34 |
A |
G |
15: 82,503,212 (GRCm39) |
L94P |
probably damaging |
Het |
Def6 |
A |
T |
17: 28,447,043 (GRCm39) |
D558V |
probably benign |
Het |
Dnase1l2 |
G |
A |
17: 24,661,699 (GRCm39) |
T20I |
possibly damaging |
Het |
Eif5b |
A |
G |
1: 38,058,423 (GRCm39) |
K242E |
unknown |
Het |
Golim4 |
T |
C |
3: 75,799,249 (GRCm39) |
N478S |
possibly damaging |
Het |
Ifna12 |
T |
A |
4: 88,521,590 (GRCm39) |
|
probably benign |
Het |
Jhy |
T |
A |
9: 40,872,182 (GRCm39) |
H109L |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,386,037 (GRCm39) |
Y241* |
probably null |
Het |
Macf1 |
G |
T |
4: 123,577,789 (GRCm39) |
A65E |
probably damaging |
Het |
Mug2 |
C |
A |
6: 122,061,335 (GRCm39) |
N1418K |
possibly damaging |
Het |
Myo1f |
A |
G |
17: 33,794,823 (GRCm39) |
D21G |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,120,155 (GRCm39) |
I1651N |
possibly damaging |
Het |
Notch3 |
A |
T |
17: 32,372,778 (GRCm39) |
C598S |
probably damaging |
Het |
Npat |
A |
T |
9: 53,469,435 (GRCm39) |
H307L |
probably damaging |
Het |
Nr1h2 |
T |
C |
7: 44,200,791 (GRCm39) |
Q279R |
possibly damaging |
Het |
Or4k52 |
T |
C |
2: 111,611,016 (GRCm39) |
V117A |
probably benign |
Het |
Or6c6c |
A |
G |
10: 129,540,794 (GRCm39) |
T16A |
possibly damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,612,983 (GRCm39) |
N648Y |
probably damaging |
Het |
Pdzrn3 |
G |
T |
6: 101,127,752 (GRCm39) |
S971R |
probably damaging |
Het |
Plch2 |
A |
G |
4: 155,070,621 (GRCm39) |
*494Q |
probably null |
Het |
Plekhg4 |
T |
A |
8: 106,108,468 (GRCm39) |
D1170E |
probably benign |
Het |
Plekhm3 |
A |
G |
1: 64,977,015 (GRCm39) |
S152P |
probably damaging |
Het |
Ppargc1b |
G |
A |
18: 61,440,870 (GRCm39) |
P683S |
possibly damaging |
Het |
Prdm12 |
T |
G |
2: 31,541,864 (GRCm39) |
M191R |
probably benign |
Het |
Prdm14 |
T |
C |
1: 13,195,857 (GRCm39) |
D68G |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,576,874 (GRCm39) |
P54S |
unknown |
Het |
Prpf4b |
A |
G |
13: 35,067,324 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
A |
10: 28,468,840 (GRCm39) |
V1408E |
probably damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,662,011 (GRCm39) |
M415T |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,520,664 (GRCm39) |
F621S |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,092,279 (GRCm39) |
D35E |
probably benign |
Het |
Rxfp3 |
T |
C |
15: 11,036,226 (GRCm39) |
H382R |
probably damaging |
Het |
Slc11a1 |
A |
G |
1: 74,422,910 (GRCm39) |
|
probably benign |
Het |
Slc25a13 |
A |
T |
6: 6,114,017 (GRCm39) |
M285K |
probably benign |
Het |
Slc30a3 |
T |
C |
5: 31,246,038 (GRCm39) |
S231G |
probably damaging |
Het |
Slc44a2 |
A |
T |
9: 21,256,130 (GRCm39) |
I274F |
probably damaging |
Het |
Tas2r119 |
A |
G |
15: 32,178,165 (GRCm39) |
I244V |
possibly damaging |
Het |
Tenm2 |
C |
A |
11: 35,918,018 (GRCm39) |
R1914L |
probably damaging |
Het |
Tfdp2 |
T |
C |
9: 96,192,643 (GRCm39) |
M242T |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,349,304 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
C |
T |
12: 57,668,821 (GRCm39) |
P421L |
possibly damaging |
Het |
Usp16 |
T |
A |
16: 87,263,246 (GRCm39) |
|
probably null |
Het |
Usp40 |
T |
C |
1: 87,909,804 (GRCm39) |
E550G |
probably benign |
Het |
Vmn2r28 |
T |
C |
7: 5,491,701 (GRCm39) |
Y182C |
probably damaging |
Het |
Zfp382 |
A |
G |
7: 29,833,174 (GRCm39) |
D275G |
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 |
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'- TTCAAAATCCTCGCAGGCTTG -3'
(R):5'- AAGACATCGCCTCCTCCATCTG -3'
Sequencing Primer
(F):5'- GATGTTCCATGTGCTTAAAAAGACGG -3'
(R):5'- ATCTGCGAGCTGATGAGC -3'
|
Posted On |
2014-11-12 |