Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00516:Helb'

4655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL00516

Quality Score

Status

Chromosome

Chromosomal Location

119919513-119948892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119941329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 453 (V453A)

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: V453A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: V453A

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: V453A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: V453A

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	C	11: 80,267,638 (GRCm39)	D91G	possibly damaging	Het
Abcc1	T	A	16: 14,231,176 (GRCm39)	L438*	probably null	Het
Asph	A	T	4: 9,639,322 (GRCm39)	N14K	probably damaging	Het
Baz1b	T	C	5: 135,245,444 (GRCm39)	Y298H	probably damaging	Het
Ccdc66	A	T	14: 27,220,413 (GRCm39)	W267R	probably damaging	Het
Cd81	A	C	7: 142,620,901 (GRCm39)	K193N	probably damaging	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Cflar	T	C	1: 58,771,469 (GRCm39)	I199T	probably benign	Het
Cmya5	A	G	13: 93,234,675 (GRCm39)	S138P	possibly damaging	Het
Cnot1	T	C	8: 96,452,707 (GRCm39)	N2123S	probably damaging	Het
Crybg3	A	G	16: 59,350,803 (GRCm39)	S846P	probably benign	Het
Cyp2d9	A	G	15: 82,339,295 (GRCm39)	I21M	probably benign	Het
Ddx41	T	C	13: 55,680,280 (GRCm39)	T371A	probably damaging	Het
Dnhd1	A	T	7: 105,306,418 (GRCm39)	I425F	possibly damaging	Het
Dsc1	T	C	18: 20,234,943 (GRCm39)	D237G	probably damaging	Het
Emc1	T	C	4: 139,082,393 (GRCm39)		probably benign	Het
Epc1	T	A	18: 6,450,515 (GRCm39)	D367V	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Hras	A	G	7: 140,772,783 (GRCm39)	I24T	possibly damaging	Het
Hsf2	A	T	10: 57,388,124 (GRCm39)	I423L	probably benign	Het
Igkv2-109	T	A	6: 68,280,054 (GRCm39)	S92T	probably benign	Het
Kiss1r	G	A	10: 79,754,550 (GRCm39)	A15T	possibly damaging	Het
Krt79	T	C	15: 101,848,601 (GRCm39)	S17G	probably damaging	Het
Lrrc14b	T	C	13: 74,509,078 (GRCm39)	D443G	probably damaging	Het
Map4k4	T	A	1: 40,053,762 (GRCm39)	V953E	probably damaging	Het
Mybpc2	G	A	7: 44,154,829 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,530 (GRCm39)	E173G	probably damaging	Het
Neurl4	C	T	11: 69,801,219 (GRCm39)	R1199W	probably damaging	Het
Otog	T	A	7: 45,900,706 (GRCm39)	V333E	probably damaging	Het
Pdcd2l	A	T	7: 33,884,246 (GRCm39)		probably null	Het
Plagl1	A	G	10: 13,003,616 (GRCm39)		probably benign	Het
Rbm34	T	C	8: 127,696,736 (GRCm39)	N122S	probably benign	Het
Shank2	A	G	7: 143,964,512 (GRCm39)	K917E	possibly damaging	Het
Slc17a8	T	C	10: 89,427,157 (GRCm39)	K315E	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Sytl2	A	G	7: 90,022,113 (GRCm39)	T183A	probably benign	Het
Tnik	T	A	3: 28,708,367 (GRCm39)	I1067N	probably damaging	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trhde	A	T	10: 114,282,104 (GRCm39)	I791N	probably benign	Het
Ttc28	A	T	5: 111,373,554 (GRCm39)	N966Y	probably damaging	Het
Vps13b	A	T	15: 35,640,703 (GRCm39)	D1356V	probably damaging	Het
Zmym2	A	G	14: 57,185,394 (GRCm39)		probably benign	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
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
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

Posted On

2012-04-20