Mutagenetix > Incidental Mutation

Incidental Mutation 'R5220:Helb'

402278

Institutional Source

Beutler Lab

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

MMRRC Submission

042793-MU

Accession Numbers

Essential gene?

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

Stock #

R5220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119919513-119948892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119937391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 618 (F618V)

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: F618V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: F618V

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

silent
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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,738,045 (GRCm39)	E250G	probably damaging	Het
Adgra1	A	G	7: 139,455,512 (GRCm39)	N380S	probably benign	Het
Ap3d1	G	A	10: 80,563,001 (GRCm39)	P160L	probably damaging	Het
Atg9a	C	T	1: 75,162,372 (GRCm39)	V505M	probably damaging	Het
Chsy3	A	T	18: 59,543,102 (GRCm39)	I747F	probably damaging	Het
Clec2g	A	G	6: 128,958,269 (GRCm39)	S100G	probably benign	Het
Cmya5	G	T	13: 93,228,804 (GRCm39)	P2095T	probably damaging	Het
Dcaf10	T	C	4: 45,373,909 (GRCm39)	W445R	possibly damaging	Het
Espl1	T	A	15: 102,207,012 (GRCm39)	L159M	probably benign	Het
Fbxw8	T	C	5: 118,233,776 (GRCm39)	D285G	possibly damaging	Het
Fras1	C	T	5: 96,916,222 (GRCm39)	R3419W	probably damaging	Het
Galc	T	A	12: 98,197,672 (GRCm39)		probably null	Het
Ghdc	T	C	11: 100,660,543 (GRCm39)	E110G	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
H2-T24	T	C	17: 36,325,562 (GRCm39)	T309A	probably benign	Het
Hycc1	A	C	5: 24,170,220 (GRCm39)	S376R	possibly damaging	Het
Ifi211	A	G	1: 173,735,262 (GRCm39)	F56L	probably damaging	Het
Kntc1	T	C	5: 123,950,160 (GRCm39)	F1988L	probably damaging	Het
Mapk13	G	A	17: 28,997,465 (GRCm39)	S361N	probably benign	Het
Mapk3	A	G	7: 126,363,408 (GRCm39)	I146V	probably benign	Het
Megf6	G	A	4: 154,338,295 (GRCm39)		probably null	Het
Mug1	G	T	6: 121,838,092 (GRCm39)	V441F	probably benign	Het
Mymk	A	G	2: 26,952,226 (GRCm39)	S173P	probably benign	Het
Nox4	A	G	7: 87,023,616 (GRCm39)	T501A	possibly damaging	Het
Or13c7	C	A	4: 43,854,624 (GRCm39)	S105Y	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52n2	T	C	7: 104,542,104 (GRCm39)	T244A	possibly damaging	Het
Prkcb	C	A	7: 121,888,678 (GRCm39)	H37Q	probably damaging	Het
Rabggtb	A	G	3: 153,615,024 (GRCm39)	F189L	probably damaging	Het
Setd1b	T	C	5: 123,281,471 (GRCm39)	I75T	unknown	Het
Slc10a5	T	A	3: 10,400,148 (GRCm39)	R171*	probably null	Het
Slc12a4	A	G	8: 106,680,484 (GRCm39)	F211L	probably damaging	Het
Slc1a5	T	A	7: 16,527,759 (GRCm39)	W352R	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
St8sia4	A	G	1: 95,555,460 (GRCm39)	M190T	probably damaging	Het
Tmeff2	A	G	1: 51,018,476 (GRCm39)	M153V	probably benign	Het
Trappc12	T	C	12: 28,796,696 (GRCm39)	T279A	probably damaging	Het
Ubn1	G	T	16: 4,895,818 (GRCm39)	A955S	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Vrk1	T	A	12: 106,039,865 (GRCm39)		probably null	Het
Zdhhc25	T	A	15: 88,485,365 (GRCm39)	Y233*	probably null	Het
Zfp109	A	G	7: 23,928,179 (GRCm39)	V418A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGGATTTAGTGGGTATTGC -3'
(R):5'- CTCCTAAATTCTCCTAGGACAGTAAAC -3'

Sequencing Primer
(F):5'- GAAAATGCATCGAACTAAATCATCC -3'
(R):5'- CGCATTTTAGAATCCTGGTTC -3'

Posted On

2016-07-22