Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02810:Helb'

360532

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 #

IGL02810

Quality Score

Status

Chromosome

Chromosomal Location

119919513-119948892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119927608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 834 (N834S)

Ref Sequence

ENSEMBL: ENSMUSP00000020449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020449] [ENSMUST00000081260] [ENSMUST00000130387] [ENSMUST00000144959] [ENSMUST00000147356] [ENSMUST00000154501]

AlphaFold

Q6NVF4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020449
AA Change: N834S

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: N834S

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: ENSMUST00000081260

SMART Domains

Protein: ENSMUSP00000080016
Gene: ENSMUSG00000034813

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
PDZ	65	145	3e-19	SMART
PDZ	166	242	5.2e-19	SMART
PDZ	265	339	8.4e-21	SMART
PDZ	518	590	1.4e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130387

SMART Domains

Protein: ENSMUSP00000123288
Gene: ENSMUSG00000034813

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
PDZ	65	145	6.36e-17	SMART
PDZ	166	242	1.11e-16	SMART
PDZ	265	339	1.73e-18	SMART
PDZ	583	655	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144959

SMART Domains

Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813

Domain	Start	End	E-Value	Type
PDZ	62	136	4.86e-13	SMART
PDZ	160	238	6.4e-22	SMART
PDZ	261	336	1.97e-13	SMART
low complexity region	393	421	N/A	INTRINSIC
low complexity region	439	456	N/A	INTRINSIC
low complexity region	464	475	N/A	INTRINSIC
PDZ	480	560	6.36e-17	SMART
PDZ	581	657	1.11e-16	SMART
PDZ	680	754	1.73e-18	SMART
PDZ	998	1070	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147356

SMART Domains

Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813

Domain	Start	End	E-Value	Type
PDZ	63	137	4.86e-13	SMART
PDZ	161	239	6.4e-22	SMART
PDZ	262	337	1.97e-13	SMART
low complexity region	394	422	N/A	INTRINSIC
low complexity region	440	457	N/A	INTRINSIC
low complexity region	465	476	N/A	INTRINSIC
PDZ	481	561	6.36e-17	SMART
PDZ	582	658	1.11e-16	SMART
PDZ	681	755	1.73e-18	SMART
PDZ	999	1071	2.79e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148241

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,249,401 (GRCm39)	K1491E	probably damaging	Het
Abi3bp	T	C	16: 56,498,138 (GRCm39)	S696P	probably damaging	Het
Ago1	A	G	4: 126,336,886 (GRCm39)	V273A	probably benign	Het
Atosb	C	A	4: 43,034,429 (GRCm39)	V389F	probably damaging	Het
Bbs2	A	G	8: 94,813,539 (GRCm39)	Y213H	probably benign	Het
Car10	T	A	11: 93,469,522 (GRCm39)	Y142N	probably damaging	Het
Eml6	T	C	11: 29,799,016 (GRCm39)	K415E	possibly damaging	Het
Exoc3l	A	T	8: 106,021,980 (GRCm39)	I41N	probably damaging	Het
Fat3	T	C	9: 16,288,146 (GRCm39)	D459G	probably damaging	Het
Gabbr1	T	C	17: 37,373,654 (GRCm39)	F401L	probably damaging	Het
Galnt10	G	A	11: 57,616,412 (GRCm39)	R109Q	probably damaging	Het
Gpr108	C	T	17: 57,549,742 (GRCm39)	D265N	probably benign	Het
Igkv8-30	A	G	6: 70,094,342 (GRCm39)	V23A	probably benign	Het
Iqck	A	T	7: 118,570,662 (GRCm39)	K271N	possibly damaging	Het
Klhl17	T	C	4: 156,318,514 (GRCm39)	E36G	possibly damaging	Het
Klrb1b	A	G	6: 128,795,430 (GRCm39)		probably null	Het
Mybl1	G	A	1: 9,743,340 (GRCm39)	P571S	probably damaging	Het
Mybl1	T	C	1: 9,748,613 (GRCm39)	T328A	probably benign	Het
Nav3	A	T	10: 109,652,135 (GRCm39)	D873E	probably damaging	Het
Nms	T	C	1: 38,987,725 (GRCm39)	Y147H	possibly damaging	Het
Nrde2	A	T	12: 100,110,017 (GRCm39)	M338K	possibly damaging	Het
Oasl2	T	A	5: 115,035,852 (GRCm39)	F43I	probably damaging	Het
Oxr1	G	A	15: 41,676,979 (GRCm39)	V91I	probably benign	Het
Pcnx2	C	T	8: 126,613,942 (GRCm39)	C503Y	probably benign	Het
Polr2m	A	T	9: 71,390,848 (GRCm39)	I14K	probably benign	Het
Ppara	T	C	15: 85,661,878 (GRCm39)	S40P	probably damaging	Het
Shisa6	T	A	11: 66,115,774 (GRCm39)	T288S	possibly damaging	Het
Slc26a5	T	C	5: 22,018,381 (GRCm39)		probably benign	Het
Spag1	A	G	15: 36,234,693 (GRCm39)	N818D	probably damaging	Het
Srcap	T	C	7: 127,120,835 (GRCm39)		probably null	Het
Tctn1	C	T	5: 122,380,664 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,886,403 (GRCm39)	N507S	possibly damaging	Het
Tut7	A	G	13: 59,929,830 (GRCm39)		probably null	Het
Ugt2b34	C	A	5: 87,054,383 (GRCm39)	V133L	probably benign	Het
Yju2b	A	G	8: 84,990,997 (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
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
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

2015-12-18