Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Helb'

194875

Institutional Source

Beutler Lab

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

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

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119919513-119948892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119930147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 744 (T744K)

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: T744K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: T744K

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

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

Meta Mutation Damage Score

0.1996

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	C	A	8: 100,148,514 (GRCm39)		noncoding transcript	Het
Acin1	A	G	14: 54,902,661 (GRCm39)	V377A	probably benign	Het
Adam39	A	T	8: 41,278,361 (GRCm39)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,170,912 (GRCm39)	*1166K	probably null	Het
Akap12	T	A	10: 4,307,574 (GRCm39)	D1461E	probably benign	Het
Aopep	T	A	13: 63,215,875 (GRCm39)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,871,056 (GRCm39)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,277,671 (GRCm39)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,640,122 (GRCm39)	M163I	probably damaging	Het
Cap2	T	G	13: 46,684,489 (GRCm39)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,468,332 (GRCm39)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,318,070 (GRCm39)	V234A	probably benign	Het
Cd207	C	T	6: 83,652,579 (GRCm39)	V184I	probably benign	Het
Cdk12	C	A	11: 98,132,587 (GRCm39)	C1005*	probably null	Het
Cep83	T	C	10: 94,586,129 (GRCm39)	S344P	probably damaging	Het
Ces1g	A	T	8: 94,033,582 (GRCm39)	Y447N	probably benign	Het
Cfap54	A	T	10: 92,883,923 (GRCm39)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,028,615 (GRCm39)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,142,525 (GRCm39)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,244,068 (GRCm39)	D59G	probably damaging	Het
Colq	G	A	14: 31,269,409 (GRCm39)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,862,275 (GRCm39)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,501,725 (GRCm39)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,178,912 (GRCm39)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,976,766 (GRCm39)	V306A	probably benign	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,323,539 (GRCm39)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,641,206 (GRCm39)	S344A	probably benign	Het
Dner	C	T	1: 84,423,311 (GRCm39)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,170,115 (GRCm39)	L139*	probably null	Het
Fam193a	T	A	5: 34,623,636 (GRCm39)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,396,385 (GRCm39)	Y102*	probably null	Het
Gm10509	A	G	17: 21,909,762 (GRCm39)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,197,921 (GRCm39)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,597,015 (GRCm39)		probably benign	Het
Heatr1	G	T	13: 12,411,341 (GRCm39)	A61S	probably benign	Het
Hmcn1	C	A	1: 150,474,781 (GRCm39)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,286,132 (GRCm39)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,158,461 (GRCm39)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,318,669 (GRCm39)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,327,232 (GRCm39)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 141,783,358 (GRCm39)	K97N	unknown	Het
Lcor	T	C	19: 41,547,705 (GRCm39)	S430P	probably benign	Het
Lpin1	A	G	12: 16,588,541 (GRCm39)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,000,837 (GRCm39)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 96,925,556 (GRCm39)		probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,930,131 (GRCm39)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm39)	L635*	probably null	Het
Nipbl	T	C	15: 8,368,035 (GRCm39)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,160,959 (GRCm39)	D196G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2b2b	A	G	13: 21,858,865 (GRCm39)	I83T	probably benign	Het
Or8b42	A	T	9: 38,342,291 (GRCm39)	I238F	probably benign	Het
Or8k16	A	G	2: 85,520,427 (GRCm39)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,325,833 (GRCm39)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,743,207 (GRCm39)	K298E	probably benign	Het
Pkd1	C	T	17: 24,813,459 (GRCm39)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,516,488 (GRCm39)	V546D	possibly damaging	Het
Plcg2	A	G	8: 118,319,447 (GRCm39)	K673E	probably benign	Het
Pld4	T	G	12: 112,729,826 (GRCm39)		probably null	Het
Plek	A	T	11: 16,942,901 (GRCm39)	N130K	probably damaging	Het
Prune2	G	A	19: 17,101,068 (GRCm39)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,048,723 (GRCm39)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,498,092 (GRCm39)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,786,826 (GRCm39)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,578,188 (GRCm39)	S168P	probably benign	Het
Sec24a	A	G	11: 51,624,590 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,987,984 (GRCm39)	M574I	probably benign	Het
Slk	T	C	19: 47,611,116 (GRCm39)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,991,603 (GRCm39)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,173,525 (GRCm39)	M174L	probably benign	Het
Spz1	T	A	13: 92,711,633 (GRCm39)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,422,814 (GRCm39)	R519S	probably benign	Het
Taf4	T	C	2: 179,618,324 (GRCm39)	H39R	unknown	Het
Tbx5	A	T	5: 119,983,178 (GRCm39)		probably null	Het
Tektl1	T	A	10: 78,583,031 (GRCm39)	K451M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Th	G	A	7: 142,451,903 (GRCm39)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,568,038 (GRCm39)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 155,009,779 (GRCm39)	H50L	possibly damaging	Het
Tpp2	T	A	1: 44,017,885 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim2	A	G	3: 84,098,107 (GRCm39)	I398T	possibly damaging	Het
Trpc5	A	T	X: 143,264,222 (GRCm39)	S212T	probably damaging	Het
Ttn	A	G	2: 76,617,678 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,678,407 (GRCm39)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,518,814 (GRCm39)	S260T	probably benign	Het
Vcan	A	G	13: 89,839,800 (GRCm39)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,589,282 (GRCm39)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,603,385 (GRCm39)	T205A	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
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

Predicted Primers

PCR Primer
(F):5'- ACACACAGAGTGGCAGAAATTCTCC -3'
(R):5'- GCTAGAGCCCTCAGTTCAATTCCC -3'

Sequencing Primer
(F):5'- CCACATTGATCTTGAAGAGGCTG -3'
(R):5'- ccctcagttcaattcccagtatc -3'

Posted On

2014-05-23