Incidental Mutation 'R6183:Helb'
| ID |
501826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R6183 (G1)
|
| Quality Score |
97.0078 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 119948903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020449]
[ENSMUST00000154501]
|
| AlphaFold |
Q6NVF4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020449
|
| SMART Domains |
Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
| Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
| Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
| Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
| Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
| Etnppl |
T |
C |
3: 130,413,966 (GRCm39) |
C22R |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
| Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
| Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
| Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
| Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
| Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
| Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
| Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 46,983,752 (GRCm39) |
N165S |
probably benign |
Het |
| Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
| Ncald |
A |
T |
15: 37,397,476 (GRCm39) |
V68D |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,875,947 (GRCm39) |
T404A |
possibly damaging |
Het |
| Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
| Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tas1r1 |
A |
G |
4: 152,116,998 (GRCm39) |
I212T |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
| Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
| Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,664,192 (GRCm39) |
N470K |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
possibly 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 |
|
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'- GGCAGTGAGAATCGAAAATACTTC -3'
(R):5'- CCCAAGAGTCGTGACCTTTC -3'
Sequencing Primer
(F):5'- AGAGTTCCTCGGCATCCAC -3'
(R):5'- GTGACCTTTCACCACGTCTC -3'
|
| Posted On |
2017-12-04 |
Incidental Mutation