Incidental Mutation 'R6746:Helb'
| ID |
532845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helb
|
| Ensembl Gene |
ENSMUSG00000020228 |
| Gene Name |
helicase (DNA) B |
| Synonyms |
D10Ertd664e |
| MMRRC Submission |
044863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R6746 (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 T
at 119941373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 438
(D438E)
|
| 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: D438E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: D438E
| 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: D438E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: D438E
| 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 |
0.1818 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| Abca17 |
A |
T |
17: 24,565,195 (GRCm39) |
L79* |
probably null |
Het |
| Acot3 |
A |
G |
12: 84,100,248 (GRCm39) |
N8S |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,169,442 (GRCm39) |
V302A |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,488,933 (GRCm39) |
|
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,250,357 (GRCm39) |
K392E |
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,908,392 (GRCm39) |
N444K |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,623,020 (GRCm39) |
N298K |
probably benign |
Het |
| Brinp2 |
C |
T |
1: 158,094,160 (GRCm39) |
G181R |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,300,253 (GRCm39) |
C2184* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,213,915 (GRCm39) |
T205A |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,696 (GRCm39) |
I759T |
probably damaging |
Het |
| Chaf1a |
A |
G |
17: 56,370,404 (GRCm39) |
D623G |
possibly damaging |
Het |
| Col6a3 |
G |
T |
1: 90,706,767 (GRCm39) |
N2115K |
unknown |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,523,987 (GRCm39) |
D629G |
possibly damaging |
Het |
| Fahd1 |
G |
T |
17: 25,068,915 (GRCm39) |
A54E |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,501,945 (GRCm39) |
R561Q |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,747,790 (GRCm39) |
D334V |
probably damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,156,585 (GRCm39) |
|
probably null |
Het |
| Hnf4g |
C |
A |
3: 3,722,170 (GRCm39) |
Y441* |
probably null |
Het |
| Hspa13 |
A |
T |
16: 75,561,925 (GRCm39) |
N91K |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,413,057 (GRCm39) |
I193T |
possibly damaging |
Het |
| Itga7 |
T |
C |
10: 128,785,341 (GRCm39) |
V848A |
probably benign |
Het |
| Kash5 |
C |
T |
7: 44,849,735 (GRCm39) |
V63I |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,615,529 (GRCm39) |
M341T |
probably benign |
Het |
| Lypd5 |
G |
T |
7: 24,052,531 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
A |
C |
7: 48,097,645 (GRCm39) |
V89G |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,441,080 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 115,075,242 (GRCm39) |
V434E |
probably damaging |
Het |
| Or2ak6 |
G |
A |
11: 58,593,369 (GRCm39) |
V281I |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,048,774 (GRCm39) |
M162V |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,952 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otor |
T |
A |
2: 142,921,955 (GRCm39) |
|
probably null |
Het |
| Pik3cg |
G |
A |
12: 32,244,757 (GRCm39) |
T899M |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Pld2 |
C |
A |
11: 70,431,933 (GRCm39) |
L52M |
probably damaging |
Het |
| Pon3 |
A |
T |
6: 5,230,786 (GRCm39) |
M247K |
possibly damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,742,319 (GRCm39) |
Y1037* |
probably null |
Het |
| Ppm1m |
A |
T |
9: 106,075,351 (GRCm39) |
C99* |
probably null |
Het |
| Prss44 |
A |
T |
9: 110,644,361 (GRCm39) |
*145C |
probably null |
Het |
| Ptpro |
T |
A |
6: 137,371,821 (GRCm39) |
Y613N |
probably damaging |
Het |
| Ralgapb |
T |
G |
2: 158,318,056 (GRCm39) |
V866G |
probably damaging |
Het |
| Rassf6 |
C |
A |
5: 90,757,633 (GRCm39) |
R109L |
possibly damaging |
Het |
| Rbm4b |
A |
C |
19: 4,812,031 (GRCm39) |
T147P |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,090,322 (GRCm39) |
K104R |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,816,829 (GRCm39) |
I69N |
possibly damaging |
Het |
| Scd1 |
G |
T |
19: 44,394,927 (GRCm39) |
F99L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,844 (GRCm39) |
I22N |
probably benign |
Het |
| Spint2 |
A |
T |
7: 28,958,848 (GRCm39) |
S66T |
probably benign |
Het |
| Tarm1 |
T |
A |
7: 3,550,978 (GRCm39) |
I2F |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,542,067 (GRCm39) |
V1860A |
probably damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,920 (GRCm39) |
I49T |
possibly damaging |
Het |
| Vars2 |
A |
G |
17: 35,971,294 (GRCm39) |
|
probably null |
Het |
| Vmn2r27 |
T |
G |
6: 124,177,552 (GRCm39) |
H484P |
possibly damaging |
Het |
| Wdr35 |
T |
A |
12: 9,053,982 (GRCm39) |
|
probably null |
Het |
| Zfp937 |
A |
T |
2: 150,081,343 (GRCm39) |
K458* |
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 |
|
|
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'- CAAGCCACTCTTCTGAGGCTTC -3'
(R):5'- ACCTCCGTGGCACTTAAAAG -3'
Sequencing Primer
(F):5'- GAGGCTTCCTGGTCTTGTTCAAAATC -3'
(R):5'- AACGTCCTGGCGTCAATTAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation