Incidental Mutation 'R8710:Helb'
| ID |
669517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| MMRRC Submission |
068564-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R8710 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119941872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 272
(L272P)
|
| 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: L272P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: L272P
| 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 damaging
Transcript: ENSMUST00000154501
AA Change: L272P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: L272P
| 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 |
0.8028 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (68/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,005,495 (GRCm39) |
N1126S |
probably damaging |
Het |
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Agpat5 |
T |
A |
8: 18,928,105 (GRCm39) |
D223E |
possibly damaging |
Het |
| Anks3 |
A |
C |
16: 4,775,976 (GRCm39) |
Y75* |
probably null |
Het |
| Ano5 |
T |
G |
7: 51,243,419 (GRCm39) |
D847E |
probably damaging |
Het |
| Asb6 |
G |
T |
2: 30,717,072 (GRCm39) |
T51K |
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,174,953 (GRCm39) |
E1702G |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,767,925 (GRCm39) |
M294V |
probably benign |
Het |
| Cadm1 |
T |
A |
9: 47,759,466 (GRCm39) |
D392E |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,421,277 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
A |
G |
11: 114,785,501 (GRCm39) |
T149A |
probably benign |
Het |
| Cd69 |
A |
T |
6: 129,246,573 (GRCm39) |
W153R |
possibly damaging |
Het |
| Cdc25c |
T |
A |
18: 34,882,666 (GRCm39) |
|
probably benign |
Het |
| Clnk |
A |
C |
5: 38,931,940 (GRCm39) |
C40W |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,947,821 (GRCm39) |
L180Q |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,436,523 (GRCm39) |
N271S |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,517,876 (GRCm39) |
I2070T |
probably benign |
Het |
| Dnah17 |
A |
C |
11: 117,932,973 (GRCm39) |
L3595R |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,245,495 (GRCm39) |
Y211C |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,902,849 (GRCm39) |
I167T |
probably benign |
Het |
| Elavl3 |
A |
T |
9: 21,937,849 (GRCm39) |
Y148N |
probably damaging |
Het |
| Ermardl2 |
A |
T |
17: 15,209,194 (GRCm39) |
N342I |
probably damaging |
Het |
| Fam83c |
A |
G |
2: 155,671,642 (GRCm39) |
S598P |
probably benign |
Het |
| Gm38119 |
ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA |
ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA |
3: 92,645,197 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
C |
1: 185,027,783 (GRCm39) |
V715G |
probably benign |
Het |
| Iqgap2 |
T |
G |
13: 95,796,756 (GRCm39) |
N1133H |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,139,880 (GRCm39) |
M43K |
probably damaging |
Het |
| Krtap7-1 |
T |
A |
16: 89,305,008 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Lag3 |
G |
A |
6: 124,885,408 (GRCm39) |
T324I |
probably damaging |
Het |
| Mapkapk2 |
C |
A |
1: 130,986,448 (GRCm39) |
A97S |
possibly damaging |
Het |
| Mettl4 |
A |
G |
17: 95,041,072 (GRCm39) |
S361P |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,158 (GRCm39) |
T1029A |
probably benign |
Het |
| Nsl1 |
C |
A |
1: 190,795,420 (GRCm39) |
A62D |
probably benign |
Het |
| Oas1e |
T |
A |
5: 120,930,027 (GRCm39) |
K164* |
probably null |
Het |
| Obsl1 |
A |
G |
1: 75,469,326 (GRCm39) |
F1205S |
probably benign |
Het |
| Or14j2 |
G |
T |
17: 37,885,540 (GRCm39) |
A258E |
probably benign |
Het |
| Or1e1b-ps1 |
G |
A |
11: 73,845,694 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or8c15 |
C |
T |
9: 38,121,066 (GRCm39) |
A237V |
possibly damaging |
Het |
| Or8g18 |
T |
A |
9: 39,149,306 (GRCm39) |
Y138F |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,183,232 (GRCm39) |
F334S |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,255,155 (GRCm39) |
E325G |
possibly damaging |
Het |
| Plekha8 |
A |
G |
6: 54,599,245 (GRCm39) |
T215A |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,411,919 (GRCm39) |
R1816G |
possibly damaging |
Het |
| Ralgps1 |
G |
A |
2: 33,035,433 (GRCm39) |
L472F |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,601,501 (GRCm39) |
T607A |
probably damaging |
Het |
| Rnf214 |
T |
A |
9: 45,778,748 (GRCm39) |
|
probably benign |
Het |
| Rtca |
A |
T |
3: 116,291,303 (GRCm39) |
Y226N |
probably benign |
Het |
| Sash1 |
T |
A |
10: 8,656,285 (GRCm39) |
N236Y |
possibly damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,951 (GRCm39) |
I100V |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,483,787 (GRCm39) |
S948R |
unknown |
Het |
| Slc25a13 |
A |
T |
6: 6,114,238 (GRCm39) |
Y279N |
probably benign |
Het |
| Slc5a2 |
T |
C |
7: 127,864,966 (GRCm39) |
L33P |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,198,828 (GRCm39) |
V279E |
probably benign |
Het |
| Ssh3 |
G |
T |
19: 4,313,833 (GRCm39) |
H475Q |
probably benign |
Het |
| Tapt1 |
A |
G |
5: 44,351,743 (GRCm39) |
S107P |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,072,796 (GRCm39) |
E1166G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,577,940 (GRCm39) |
L89P |
possibly damaging |
Het |
| Tmc4 |
G |
T |
7: 3,678,463 (GRCm39) |
T123N |
probably benign |
Het |
| Tmem139 |
A |
G |
6: 42,241,021 (GRCm39) |
D202G |
probably damaging |
Het |
| Trim35 |
T |
C |
14: 66,545,367 (GRCm39) |
S313P |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,540,021 (GRCm39) |
I154T |
probably damaging |
Het |
| Ttc9c |
T |
C |
19: 8,795,860 (GRCm39) |
T60A |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,030,349 (GRCm39) |
N2386K |
probably damaging |
Het |
| Wdpcp |
C |
A |
11: 21,610,924 (GRCm39) |
Q49K |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,884,285 (GRCm39) |
Y867F |
|
Het |
| Zfp423 |
C |
T |
8: 88,507,549 (GRCm39) |
E932K |
possibly damaging |
Het |
| Zfp592 |
T |
C |
7: 80,673,321 (GRCm39) |
F95S |
probably damaging |
Het |
| Zfp644 |
T |
G |
5: 106,782,997 (GRCm39) |
N1095H |
probably damaging |
Het |
| Zfp983 |
A |
T |
17: 21,880,234 (GRCm39) |
N54I |
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 |
|
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 |
|
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'- TTCAGAAACGCCAGAGACTG -3'
(R):5'- GTGTTAGCTAGACAACCTTTTCACC -3'
Sequencing Primer
(F):5'- GACTGACACGCTTCCTCGAATG -3'
(R):5'- CTGGGATTTGAACTCAGGACCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation