Incidental Mutation 'R9340:Helb'
| ID |
707455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R9340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119928556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 762
(K762E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020449]
[ENSMUST00000154501]
|
| AlphaFold |
Q6NVF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020449
AA Change: K762E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: K762E
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
A |
13: 61,001,647 (GRCm39) |
M58L |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,840,939 (GRCm39) |
V1078A |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,257,492 (GRCm39) |
D175G |
probably damaging |
Het |
| Adad2 |
A |
G |
8: 120,339,769 (GRCm39) |
M84V |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
| Ahsa1 |
T |
C |
12: 87,315,053 (GRCm39) |
S69P |
probably damaging |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Antxr2 |
G |
T |
5: 98,086,306 (GRCm39) |
P434T |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,037,382 (GRCm39) |
Y470H |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,963,372 (GRCm39) |
I907T |
probably damaging |
Het |
| Baz1b |
A |
T |
5: 135,246,729 (GRCm39) |
Q726L |
probably benign |
Het |
| Bcar3 |
C |
T |
3: 122,298,462 (GRCm39) |
|
probably benign |
Het |
| Bean1 |
C |
T |
8: 104,908,739 (GRCm39) |
R39C |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,268,686 (GRCm39) |
N256I |
possibly damaging |
Het |
| Cnot10 |
T |
C |
9: 114,460,897 (GRCm39) |
K91R |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,651,757 (GRCm39) |
V1085M |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,534,449 (GRCm39) |
|
probably null |
Het |
| Dync1i2 |
T |
A |
2: 71,093,019 (GRCm39) |
W605R |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,286,297 (GRCm39) |
V110E |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,782,136 (GRCm39) |
H563L |
probably damaging |
Het |
| Fosl2 |
A |
G |
5: 32,304,379 (GRCm39) |
T105A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,604 (GRCm39) |
H4779R |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,770,161 (GRCm39) |
E318K |
probably damaging |
Het |
| Hc |
G |
A |
2: 34,876,294 (GRCm39) |
T1584I |
probably damaging |
Het |
| Hspg2 |
T |
G |
4: 137,296,827 (GRCm39) |
L4335R |
probably damaging |
Het |
| Ift88 |
A |
C |
14: 57,718,920 (GRCm39) |
Q635P |
probably damaging |
Het |
| Inpp5a |
C |
A |
7: 138,969,380 (GRCm39) |
D25E |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,376,786 (GRCm39) |
T387A |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,374,223 (GRCm39) |
D1529N |
probably benign |
Het |
| Lamb1 |
A |
T |
12: 31,374,224 (GRCm39) |
D1529V |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,758,584 (GRCm39) |
N476S |
probably benign |
Het |
| Mup17 |
T |
C |
4: 61,512,633 (GRCm39) |
M87V |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,452,494 (GRCm39) |
T189I |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,447,629 (GRCm39) |
Y462N |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,664,881 (GRCm39) |
D270G |
probably benign |
Het |
| Obox2 |
T |
C |
7: 15,130,789 (GRCm39) |
L7S |
probably damaging |
Het |
| Obox6 |
A |
T |
7: 15,567,722 (GRCm39) |
S242T |
possibly damaging |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Pigyl |
C |
T |
9: 22,069,130 (GRCm39) |
|
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,369,649 (GRCm39) |
V891A |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,458,890 (GRCm39) |
D292G |
possibly damaging |
Het |
| Saal1 |
A |
G |
7: 46,351,248 (GRCm39) |
F243L |
probably benign |
Het |
| Sec24c |
G |
A |
14: 20,729,598 (GRCm39) |
V59M |
probably benign |
Het |
| Sema4f |
C |
A |
6: 82,890,890 (GRCm39) |
G639V |
probably damaging |
Het |
| Serpinb1c |
A |
T |
13: 33,066,172 (GRCm39) |
C258S |
probably benign |
Het |
| Snx21 |
CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG |
CACCTGCAGG |
2: 164,633,849 (GRCm39) |
|
probably benign |
Het |
| Syndig1 |
T |
C |
2: 149,845,175 (GRCm39) |
S233P |
probably damaging |
Het |
| Taf6l |
A |
T |
19: 8,752,636 (GRCm39) |
L377M |
probably damaging |
Het |
| Tcl1 |
T |
C |
12: 105,184,979 (GRCm39) |
Y77C |
probably damaging |
Het |
| Tekt2 |
C |
A |
4: 126,216,952 (GRCm39) |
M272I |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,100,460 (GRCm39) |
E98G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,182,763 (GRCm39) |
I383N |
unknown |
Het |
| Wdr89 |
G |
T |
12: 75,679,937 (GRCm39) |
P106T |
probably benign |
Het |
| Zfp534 |
T |
C |
4: 147,758,698 (GRCm39) |
E657G |
possibly damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,013 (GRCm39) |
K434R |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,321,680 (GRCm39) |
K980* |
probably null |
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 |
|
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 |
|
Z1177:Helb
|
UTSW |
10 |
119,928,595 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAAACCTGTTACTCCC -3'
(R):5'- AATCAAGTGACAGTTGTGACCAC -3'
Sequencing Primer
(F):5'- CCTAAGACTCACCCGTGTTATG -3'
(R):5'- GACAGTTGTGACCACTTGATTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation