Mutagenetix > Incidental Mutation

Incidental Mutation 'R6578:Helb'

523884

Institutional Source

Beutler Lab

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

MMRRC Submission

044702-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R6578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119919513-119948892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119947086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 76 (R76S)

Ref Sequence

ENSEMBL: ENSMUSP00000116954 (fasta)

Gene Model

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

AlphaFold

Q6NVF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020449
AA Change: R76S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: R76S

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: R76S

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

SMART Domains

Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: R76S

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: 99.9%
3x: 99.4%
10x: 96.8%
20x: 89.4%

Validation Efficiency

97% (37/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	A	6: 146,854,812 (GRCm39)	R77*	probably null	Het
Aldh9a1	A	G	1: 167,183,328 (GRCm39)	Y182C	probably damaging	Het
Alpk3	T	A	7: 80,728,432 (GRCm39)	S521T	probably benign	Het
Ankzf1	A	G	1: 75,174,401 (GRCm39)	R464G	possibly damaging	Het
Baz2b	T	C	2: 59,799,623 (GRCm39)	E232G	possibly damaging	Het
Bbs2	T	C	8: 94,803,669 (GRCm39)	S524G	probably null	Het
Casp1	A	G	9: 5,304,280 (GRCm39)	K318R	probably benign	Het
Clock	T	A	5: 76,364,556 (GRCm39)	Q853L	unknown	Het
Clstn3	A	G	6: 124,427,663 (GRCm39)		probably null	Het
Ebpl	A	C	14: 61,597,769 (GRCm39)	V24G	probably benign	Het
Erbb2	T	C	11: 98,319,014 (GRCm39)	C568R	probably damaging	Het
Gcm2	A	G	13: 41,259,154 (GRCm39)	I105T	probably damaging	Het
Gm7145	C	T	1: 117,913,525 (GRCm39)	P136S	probably damaging	Het
Hipk4	T	C	7: 27,227,812 (GRCm39)	I186T	probably damaging	Het
Igdcc3	A	G	9: 65,089,301 (GRCm39)	D499G	probably damaging	Het
Krt26	T	A	11: 99,225,628 (GRCm39)	Q284H	probably damaging	Het
Lama4	T	C	10: 38,893,361 (GRCm39)	I156T	probably benign	Het
Mical2	T	A	7: 111,910,652 (GRCm39)	F274Y	probably damaging	Het
Mug1	A	T	6: 121,864,411 (GRCm39)	Q1436L	probably benign	Het
Nin	A	G	12: 70,107,968 (GRCm39)	V208A	probably damaging	Het
Or4p20	T	C	2: 88,253,488 (GRCm39)	S294G	probably benign	Het
Pappa	T	A	4: 65,074,374 (GRCm39)	N309K	possibly damaging	Het
Pdcd11	T	C	19: 47,099,520 (GRCm39)	V873A	probably benign	Het
Phf14	G	A	6: 11,991,996 (GRCm39)	C724Y	probably damaging	Het
Pik3r2	T	G	8: 71,225,283 (GRCm39)	I127L	probably benign	Het
Polr1a	T	A	6: 71,953,025 (GRCm39)	M1531K	possibly damaging	Het
Pwwp2b	T	C	7: 138,836,028 (GRCm39)	C490R	probably damaging	Het
Rax	T	C	18: 66,071,738 (GRCm39)	T50A	probably benign	Het
Rbm28	A	T	6: 29,137,639 (GRCm39)	I438N	probably damaging	Het
Sema4c	C	T	1: 36,589,834 (GRCm39)	V507I	probably benign	Het
Skint8	C	T	4: 111,794,159 (GRCm39)	T183I	probably benign	Het
Spata16	C	T	3: 26,721,697 (GRCm39)	Q73*	probably null	Het
Sync	T	C	4: 129,188,060 (GRCm39)	L364P	probably damaging	Het
Syne1	T	A	10: 5,355,454 (GRCm39)	K376*	probably null	Het
Tanc1	C	T	2: 59,626,298 (GRCm39)	R552C	probably damaging	Het
Tdrd6	T	C	17: 43,939,852 (GRCm39)	I399V	possibly damaging	Het
Vps13b	T	C	15: 35,446,247 (GRCm39)	C455R	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
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
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'- GTATGCGCTCAGAGGCTAAGTTG -3'
(R):5'- CCAGATGGAGCAGCATTCTG -3'

Sequencing Primer
(F):5'- CGCTCAGAGGCTAAGTTGCATTC -3'
(R):5'- ATGGAGCAGCATTCTGTTGTAGAC -3'

Posted On

2018-06-22