Incidental Mutation 'R8448:Helb'
| ID |
654615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| MMRRC Submission |
067828-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R8448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
119919513-119948892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119938791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 561
(F561S)
|
| 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: F561S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: F561S
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,461,022 (GRCm39) |
|
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,616,027 (GRCm39) |
C1030S |
probably damaging |
Het |
| Adamtsl3 |
C |
A |
7: 82,253,007 (GRCm39) |
T1527K |
possibly damaging |
Het |
| Akap9 |
G |
A |
5: 3,998,897 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
C |
A |
5: 110,389,909 (GRCm39) |
P457T |
possibly damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,868,007 (GRCm39) |
N91S |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,494,173 (GRCm39) |
Q203K |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,742,137 (GRCm39) |
D61E |
|
Het |
| Bmpr1a |
T |
A |
14: 34,136,759 (GRCm39) |
K477N |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,824,364 (GRCm39) |
I1040V |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,166,955 (GRCm39) |
F304L |
possibly damaging |
Het |
| Cdkn2a |
C |
A |
4: 89,200,291 (GRCm39) |
V20L |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,173 (GRCm39) |
S385G |
probably damaging |
Het |
| Cntrob |
A |
G |
11: 69,190,679 (GRCm39) |
F46L |
unknown |
Het |
| Cth |
T |
C |
3: 157,630,657 (GRCm39) |
D4G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,456,197 (GRCm39) |
H416Y |
probably damaging |
Het |
| Dennd6a |
C |
A |
14: 26,328,098 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,015,682 (GRCm39) |
Y1672C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,892,814 (GRCm39) |
I800V |
probably benign |
Het |
| Esrp2 |
A |
G |
8: 106,858,853 (GRCm39) |
Y595H |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,566,301 (GRCm39) |
Y497F |
probably benign |
Het |
| Fggy |
A |
G |
4: 95,732,427 (GRCm39) |
T473A |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,984,569 (GRCm39) |
L18Q |
probably damaging |
Het |
| Gstt2 |
C |
A |
10: 75,668,526 (GRCm39) |
R107L |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,358,319 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,146,249 (GRCm39) |
T120A |
probably benign |
Het |
| Kdm5d |
G |
A |
Y: 914,056 (GRCm39) |
R331H |
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,586,455 (GRCm39) |
Y345H |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,159,825 (GRCm39) |
K418E |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,511,726 (GRCm39) |
T81S |
unknown |
Het |
| Med17 |
C |
T |
9: 15,173,735 (GRCm39) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,571,799 (GRCm39) |
I1373F |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,894 (GRCm39) |
Q543L |
possibly damaging |
Het |
| Nat9 |
T |
C |
11: 115,075,902 (GRCm39) |
T40A |
probably damaging |
Het |
| Notch4 |
A |
T |
17: 34,805,763 (GRCm39) |
|
probably null |
Het |
| Ogdh |
A |
G |
11: 6,292,619 (GRCm39) |
N455S |
probably damaging |
Het |
| Or52k2 |
C |
A |
7: 102,254,207 (GRCm39) |
F215L |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,117,534 (GRCm39) |
F599L |
probably benign |
Het |
| Pga5 |
T |
C |
19: 10,649,173 (GRCm39) |
Y249C |
probably damaging |
Het |
| Plekha8 |
A |
T |
6: 54,607,539 (GRCm39) |
K382M |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,753,149 (GRCm39) |
E119V |
probably damaging |
Het |
| Pnp |
A |
T |
14: 51,185,356 (GRCm39) |
H20L |
probably benign |
Het |
| Polq |
A |
T |
16: 36,837,559 (GRCm39) |
|
probably null |
Het |
| Psma3 |
T |
G |
12: 71,035,250 (GRCm39) |
I177R |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,240,784 (GRCm39) |
|
probably null |
Het |
| Ptprt |
A |
T |
2: 161,400,806 (GRCm39) |
L1077Q |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,651,744 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
T |
5: 66,184,573 (GRCm39) |
M10K |
possibly damaging |
Het |
| Rere |
A |
G |
4: 150,703,653 (GRCm39) |
D186G |
probably damaging |
Het |
| Rpl24 |
T |
C |
16: 55,787,453 (GRCm39) |
S38P |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,885,787 (GRCm39) |
F79L |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,903,041 (GRCm39) |
D1551V |
probably benign |
Het |
| Sos1 |
C |
A |
17: 80,741,548 (GRCm39) |
M412I |
probably benign |
Het |
| Spast |
G |
A |
17: 74,666,293 (GRCm39) |
V209I |
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,335,769 (GRCm39) |
Q340K |
possibly damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,185 (GRCm39) |
Y574C |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,791,346 (GRCm39) |
N1748S |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,098,474 (GRCm39) |
K16N |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,225,933 (GRCm39) |
D659G |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,656,253 (GRCm39) |
C821S |
probably damaging |
Het |
| Whamm |
T |
A |
7: 81,224,295 (GRCm39) |
V197D |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,006,101 (GRCm39) |
F431S |
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 |
|
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'- GGGCTGTGAGAAAAGCTTCC -3'
(R):5'- CCTGTAATTGGAAAGTTTTGTACCG -3'
Sequencing Primer
(F):5'- GTGAGAAAAGCTTCCCACAGC -3'
(R):5'- GAAAGTTTTGTACCGTGTTTGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation