Incidental Mutation 'R3874:Helb'
ID |
276736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helb
|
Ensembl Gene |
ENSMUSG00000020228 |
Gene Name |
helicase (DNA) B |
Synonyms |
D10Ertd664e |
MMRRC Submission |
040792-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R3874 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119941942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 249
(I249V)
|
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: I249V
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000020449 Gene: ENSMUSG00000020228 AA Change: I249V
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: I249V
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116954 Gene: ENSMUSG00000020228 AA Change: I249V
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: 97.5%
- 20x: 95.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130213A22Rik |
C |
A |
11: 69,012,301 (GRCm39) |
G26* |
probably null |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Acox2 |
A |
G |
14: 8,248,061 (GRCm38) |
I407T |
probably benign |
Het |
Adam8 |
T |
C |
7: 139,567,520 (GRCm39) |
N408D |
probably damaging |
Het |
Adgre1 |
A |
T |
17: 57,708,925 (GRCm39) |
T39S |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Arid1b |
T |
A |
17: 5,386,790 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
A |
G |
8: 120,462,035 (GRCm39) |
I303V |
possibly damaging |
Het |
Bpifc |
C |
T |
10: 85,827,118 (GRCm39) |
V144I |
probably benign |
Het |
Camk4 |
A |
G |
18: 33,291,907 (GRCm39) |
E189G |
possibly damaging |
Het |
Casz1 |
A |
G |
4: 149,024,046 (GRCm39) |
|
probably benign |
Het |
Ccdc134 |
T |
C |
15: 82,015,643 (GRCm39) |
V41A |
possibly damaging |
Het |
Chrd |
A |
T |
16: 20,557,660 (GRCm39) |
T753S |
probably damaging |
Het |
Cracd |
A |
G |
5: 76,988,739 (GRCm39) |
D30G |
probably damaging |
Het |
Cyb561a3 |
T |
C |
19: 10,562,735 (GRCm39) |
V125A |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,410,842 (GRCm39) |
F1687S |
probably damaging |
Het |
Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Dnai2 |
G |
T |
11: 114,623,781 (GRCm39) |
G15W |
probably damaging |
Het |
Dsg1c |
A |
G |
18: 20,410,109 (GRCm39) |
I526V |
probably benign |
Het |
Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
Gli1 |
A |
T |
10: 127,166,088 (GRCm39) |
V1055E |
probably damaging |
Het |
Hand2 |
G |
T |
8: 57,775,011 (GRCm39) |
A24S |
probably benign |
Het |
Hspa4l |
G |
A |
3: 40,727,074 (GRCm39) |
V492M |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,266,660 (GRCm39) |
I1916T |
probably damaging |
Het |
Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,375,345 (GRCm39) |
L353H |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,755,615 (GRCm39) |
F47L |
probably benign |
Het |
Klhl13 |
T |
C |
X: 23,151,415 (GRCm39) |
D21G |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Krt9 |
C |
T |
11: 100,081,675 (GRCm39) |
V285I |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,146 (GRCm39) |
R344G |
possibly damaging |
Het |
Mier2 |
G |
T |
10: 79,377,631 (GRCm39) |
P439T |
possibly damaging |
Het |
Mppe1 |
T |
A |
18: 67,358,957 (GRCm39) |
|
probably null |
Het |
Nedd4l |
G |
A |
18: 65,300,606 (GRCm39) |
A243T |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,797,043 (GRCm39) |
C934* |
probably null |
Het |
Nsmce3 |
C |
T |
7: 64,521,916 (GRCm39) |
D251N |
probably damaging |
Het |
Or10a49 |
C |
T |
7: 108,468,335 (GRCm39) |
V9M |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
Or3a10 |
A |
G |
11: 73,935,525 (GRCm39) |
C192R |
probably damaging |
Het |
Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,470 (GRCm39) |
I164T |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,034,067 (GRCm39) |
T6A |
probably benign |
Het |
Picalm |
T |
A |
7: 89,838,427 (GRCm39) |
F493Y |
probably damaging |
Het |
Prl7d1 |
A |
G |
13: 27,900,651 (GRCm39) |
M1T |
probably null |
Het |
Prl8a1 |
T |
C |
13: 27,759,441 (GRCm39) |
K199E |
possibly damaging |
Het |
Rims1 |
C |
T |
1: 22,498,740 (GRCm39) |
R764H |
probably damaging |
Het |
Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
Rufy2 |
T |
C |
10: 62,833,916 (GRCm39) |
L294P |
probably damaging |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Slc22a30 |
G |
T |
19: 8,314,213 (GRCm39) |
T491K |
probably benign |
Het |
Slc35b3 |
T |
C |
13: 39,127,044 (GRCm39) |
N20D |
possibly damaging |
Het |
Slc5a4a |
T |
C |
10: 76,017,489 (GRCm39) |
F429L |
probably benign |
Het |
Sulf1 |
T |
C |
1: 12,887,636 (GRCm39) |
I270T |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
Tnc |
T |
A |
4: 63,926,947 (GRCm39) |
I860F |
probably damaging |
Het |
Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,584,443 (GRCm39) |
T22222P |
probably damaging |
Het |
Uroc1 |
A |
T |
6: 90,338,494 (GRCm39) |
K652* |
probably null |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,831,954 (GRCm39) |
F278L |
probably benign |
Het |
Vmn2r7 |
A |
G |
3: 64,627,032 (GRCm39) |
F86L |
possibly damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,315,856 (GRCm39) |
I70K |
possibly damaging |
Het |
Vps13a |
C |
T |
19: 16,722,317 (GRCm39) |
A332T |
probably benign |
Het |
Zfp568 |
T |
A |
7: 29,722,821 (GRCm39) |
C589S |
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 |
|
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'- AGCCCGAGGTCAAGTCTTTTAC -3'
(R):5'- TAGCTAGACAACCTTTTCACCC -3'
Sequencing Primer
(F):5'- ACTTCAATGTACGTGTGTCCG -3'
(R):5'- CTGGGATTTGAACTCAGGACCTC -3'
|
Posted On |
2015-04-06 |