Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00924:Helb'

28331

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 #

IGL00924

Quality Score

Status

Chromosome

Chromosomal Location

119919513-119948892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119946889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 141 (K141N)

Ref Sequence

ENSEMBL: ENSMUSP00000116954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020449] [ENSMUST00000154501]

AlphaFold

Q6NVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000020449
AA Change: K141N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: K141N

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
AA Change: K141N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: K141N

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,255,021 (GRCm39)	V112A	probably benign	Het
Atp1a4	T	A	1: 172,074,339 (GRCm39)	I305F	probably damaging	Het
AW209491	A	G	13: 14,811,660 (GRCm39)	N171S	probably damaging	Het
Bank1	G	T	3: 135,953,395 (GRCm39)	A120E	probably damaging	Het
Bdp1	T	A	13: 100,234,087 (GRCm39)	E206D	possibly damaging	Het
Brd1	T	C	15: 88,613,612 (GRCm39)	K428E	possibly damaging	Het
Ccdc42	A	G	11: 68,485,447 (GRCm39)	I191V	probably benign	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Cpm	T	G	10: 117,511,971 (GRCm39)	I305S	probably damaging	Het
Cracd	A	G	5: 77,006,833 (GRCm39)	T1065A	unknown	Het
Dlc1	A	T	8: 37,405,368 (GRCm39)	S140R	probably benign	Het
Dnajc14	A	G	10: 128,653,188 (GRCm39)	T674A	probably benign	Het
Dnajc7	A	G	11: 100,475,111 (GRCm39)	I437T	possibly damaging	Het
Entpd5	A	T	12: 84,433,828 (GRCm39)	V147E	probably damaging	Het
Gpr139	A	G	7: 118,783,510 (GRCm39)	C30R	probably benign	Het
Habp4	A	G	13: 64,321,885 (GRCm39)	D174G	probably damaging	Het
Has3	T	C	8: 107,605,231 (GRCm39)	F479S	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kdm1b	G	A	13: 47,221,956 (GRCm39)	R465H	probably benign	Het
Lrrc57	A	T	2: 120,436,532 (GRCm39)	M86K	possibly damaging	Het
Map7d1	A	G	4: 126,132,398 (GRCm39)	V258A	probably damaging	Het
Mtcl2	T	G	2: 156,882,625 (GRCm39)	M476L	probably damaging	Het
Mybbp1a	T	A	11: 72,334,393 (GRCm39)	F216Y	probably damaging	Het
Ncan	T	A	8: 70,561,039 (GRCm39)	M643L	possibly damaging	Het
Ngdn	T	C	14: 55,260,626 (GRCm39)	I278T	probably damaging	Het
Or4c104	T	C	2: 88,586,500 (GRCm39)	D173G	possibly damaging	Het
Or9a4	C	T	6: 40,548,388 (GRCm39)	R23C	probably benign	Het
P4hb	G	T	11: 120,454,644 (GRCm39)	Q245K	probably benign	Het
Pcx	G	A	19: 4,670,965 (GRCm39)	V1089I	probably benign	Het
Phc3	A	T	3: 30,990,624 (GRCm39)	M498K	probably damaging	Het
Pkd1	T	A	17: 24,790,601 (GRCm39)	L1025*	probably null	Het
Sdhaf2	G	A	19: 10,494,380 (GRCm39)	P110S	probably damaging	Het
Slc22a20	T	C	19: 6,020,544 (GRCm39)	K538E	probably benign	Het
Spag11b	T	A	8: 19,192,656 (GRCm39)	V78D	probably damaging	Het
Tgm3	T	C	2: 129,880,294 (GRCm39)	C367R	probably damaging	Het
Unc5a	G	A	13: 55,152,327 (GRCm39)	E741K	probably damaging	Het
Vmn2r58	A	T	7: 41,486,891 (GRCm39)	L668H	probably damaging	Het
Wdr62	G	A	7: 29,964,643 (GRCm39)	T367I	probably damaging	Het
Wdr62	G	A	7: 29,942,231 (GRCm39)	P603S	probably damaging	Het
Xab2	G	A	8: 3,661,723 (GRCm39)	R577W	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
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

2013-04-17