Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Helb'

359176

Institutional Source

Beutler Lab

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

MMRRC Submission

041961-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120083608-120112987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120084849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1063 (D1063G)

Ref Sequence

ENSEMBL: ENSMUSP00000020449 (fasta)

Gene Model

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

AlphaFold

Q6NVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000020449
AA Change: D1063G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: D1063G

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,417	M86K	possibly damaging	Het
2700062C07Rik	A	G	18: 24,470,904	M1V	probably null	Het
Abcb11	T	A	2: 69,323,962	T87S	possibly damaging	Het
Arap3	A	G	18: 37,996,275	V210A	probably benign	Het
Avl9	T	C	6: 56,736,494	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,482,720	K222R	probably benign	Het
Chsy3	C	A	18: 59,179,413	F319L	probably benign	Het
Coro2b	T	C	9: 62,426,578	T345A	probably benign	Het
Cpb1	A	G	3: 20,263,712	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,072,334	I213V	probably benign	Het
Dcaf15	A	G	8: 84,097,728	C586R	probably benign	Het
Ddr2	T	A	1: 169,998,088	E314D	probably benign	Het
Dennd5a	C	T	7: 109,896,336	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,834,115	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,906,999		probably null	Het
Eif2ak4	A	T	2: 118,422,087	H302L	probably damaging	Het
Eif2d	G	T	1: 131,165,152	R399L	probably damaging	Het
Fat2	A	G	11: 55,311,468	V260A	probably benign	Het
Fhod3	T	A	18: 25,028,135	Y575N	probably benign	Het
Fscb	T	C	12: 64,474,470	E74G	possibly damaging	Het
Gdpd2	G	A	X: 100,734,193	M243I	possibly damaging	Het
Glra1	C	A	11: 55,536,384	D42Y	probably damaging	Het
Gm281	T	C	14: 13,845,292	N540S	probably benign	Het
Gm8882	T	A	6: 132,361,928	N109I	unknown	Het
Gnl2	T	C	4: 125,041,018	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,086	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,341,977	H2892L	possibly damaging	Het
Htr2c	A	G	X: 147,193,797	T163A	probably benign	Het
Impact	T	A	18: 12,985,289	H188Q	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnx2	C	T	5: 147,029,137	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,638,349	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,562,285	Q458H	probably damaging	Het
Maml3	A	T	3: 51,689,875	D483E	probably damaging	Het
Mef2c	T	A	13: 83,662,629	*467R	probably null	Het
Mms19	T	A	19: 41,944,558	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,919,926	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,623,230	Y426H	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr464	T	A	11: 87,914,190	T239S	probably damaging	Het
Olfr470	T	C	7: 107,845,428	I102V	probably benign	Het
Olfr491	A	T	7: 108,317,752	N286I	probably damaging	Het
Olfr566	A	G	7: 102,856,979	I101T	probably damaging	Het
Oog2	T	C	4: 144,196,451	S429P	probably benign	Het
Pcnt	T	C	10: 76,437,206	D93G	probably benign	Het
Pdia5	A	T	16: 35,456,513	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,770,252	R762*	probably null	Het
Piezo1	G	T	8: 122,498,206	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,431,269	Y141H	probably benign	Het
Rassf8	G	T	6: 145,815,540	K197N	probably benign	Het
Ryr2	T	C	13: 11,737,753	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,910,502	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,539,538	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,304,977	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,465,233	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc2a9	C	A	5: 38,382,099	G353C	probably damaging	Het
Snx33	T	A	9: 56,925,901	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,718,358	V1107M	probably damaging	Het
Supt6	T	C	11: 78,224,683	D761G	probably benign	Het
Tfeb	T	C	17: 47,785,862	V18A	probably benign	Het
Thap12	G	T	7: 98,715,954	C443F	probably damaging	Het
Thap12	T	A	7: 98,715,955	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158	D496G	probably benign	Het
Trappc8	G	A	18: 20,841,572	R900*	probably null	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,442,637	I80L	probably benign	Het
Trpm5	C	A	7: 143,082,785	V472L	probably benign	Het
Tspear	C	T	10: 77,864,695	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,656,018	V238M	probably benign	Het
Usp20	A	G	2: 31,019,824	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,677,533	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zc3h18	A	T	8: 122,383,643	D77V	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het

Other mutations in Helb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Helb	APN	10	120098245	missense	possibly damaging	0.88
IGL00516:Helb	APN	10	120105424	missense	probably damaging	1.00
IGL00924:Helb	APN	10	120110984	missense	probably benign	0.01
IGL00971:Helb	APN	10	120094263	missense	possibly damaging	0.50
IGL01142:Helb	APN	10	120111144	missense	probably damaging	1.00
IGL01483:Helb	APN	10	120111138	missense	probably damaging	1.00
IGL01688:Helb	APN	10	120108980	missense	probably damaging	0.99
IGL01860:Helb	APN	10	120102833	missense	probably damaging	0.97
IGL02298:Helb	APN	10	120101526	missense	probably damaging	1.00
IGL02501:Helb	APN	10	120102788	missense	possibly damaging	0.96
IGL02554:Helb	APN	10	120089712	missense	probably damaging	1.00
IGL02810:Helb	APN	10	120091703	missense	possibly damaging	0.48
IGL02902:Helb	APN	10	120089485	missense	probably benign	0.00
IGL03405:Helb	APN	10	120089796	missense	probably damaging	1.00
R0004:Helb	UTSW	10	120108981	missense	probably damaging	1.00
R0092:Helb	UTSW	10	120089808	missense	probably damaging	1.00
R0436:Helb	UTSW	10	120094212	splice site	probably benign
R0850:Helb	UTSW	10	120105367	missense	probably damaging	1.00
R1423:Helb	UTSW	10	120108966	missense	probably damaging	0.99
R1663:Helb	UTSW	10	120105433	missense	probably damaging	1.00
R1756:Helb	UTSW	10	120094242	missense	probably damaging	0.96
R1812:Helb	UTSW	10	120089566	nonsense	probably null
R1976:Helb	UTSW	10	120094263	missense	possibly damaging	0.50
R2049:Helb	UTSW	10	120106021	missense	possibly damaging	0.74
R2063:Helb	UTSW	10	120105766	missense	probably benign
R2141:Helb	UTSW	10	120106021	missense	possibly damaging	0.74
R2180:Helb	UTSW	10	120105448	missense	probably benign	0.02
R2432:Helb	UTSW	10	120105537	missense	probably benign	0.01
R3030:Helb	UTSW	10	120089582	nonsense	probably null
R3874:Helb	UTSW	10	120106037	missense	probably benign	0.31
R3978:Helb	UTSW	10	120089625	missense	probably benign
R4731:Helb	UTSW	10	120094288	critical splice acceptor site	probably null
R4748:Helb	UTSW	10	120084849	missense	probably benign
R4749:Helb	UTSW	10	120084849	missense	probably benign
R4840:Helb	UTSW	10	120084858	missense	probably benign	0.33
R4977:Helb	UTSW	10	120110881	missense	probably benign	0.01
R5149:Helb	UTSW	10	120105743	missense	probably benign	0.39
R5220:Helb	UTSW	10	120101486	missense	probably damaging	1.00
R5447:Helb	UTSW	10	120102901	missense	possibly damaging	0.88
R5637:Helb	UTSW	10	120105448	missense	probably benign	0.02
R5660:Helb	UTSW	10	120111079	nonsense	probably null
R5663:Helb	UTSW	10	120105793	missense	possibly damaging	0.61
R5806:Helb	UTSW	10	120092519	missense	probably damaging	1.00
R5951:Helb	UTSW	10	120091748	missense	possibly damaging	0.91
R6010:Helb	UTSW	10	120105883	missense	probably damaging	1.00
R6183:Helb	UTSW	10	120112998	splice site	probably null
R6578:Helb	UTSW	10	120111181	missense	probably damaging	1.00
R6642:Helb	UTSW	10	120084930	missense	probably benign	0.17
R6666:Helb	UTSW	10	120084951	missense	probably damaging	0.99
R6705:Helb	UTSW	10	120089811	splice site	probably null
R6746:Helb	UTSW	10	120105468	missense	probably damaging	1.00
R7114:Helb	UTSW	10	120105256	missense	probably benign	0.09
R7396:Helb	UTSW	10	120089571	missense	probably benign
R7422:Helb	UTSW	10	120108894	missense	probably damaging	1.00
R7508:Helb	UTSW	10	120105283	missense	probably benign	0.04
R7509:Helb	UTSW	10	120089814	missense	probably damaging	1.00
R7746:Helb	UTSW	10	120095102	missense	probably null	1.00
R8058:Helb	UTSW	10	120105578	missense	probably benign	0.00
R8074:Helb	UTSW	10	120089416	missense	probably benign	0.00
R8348:Helb	UTSW	10	120102886	missense	probably damaging	1.00
R8428:Helb	UTSW	10	120091617	missense	probably damaging	1.00
R8448:Helb	UTSW	10	120102886	missense	probably damaging	1.00
R8710:Helb	UTSW	10	120105967	missense	probably damaging	1.00
R8751:Helb	UTSW	10	120089507	missense	probably benign	0.01
R8815:Helb	UTSW	10	120112787	missense	possibly damaging	0.71
R8822:Helb	UTSW	10	120105484	missense	probably benign	0.01
R9031:Helb	UTSW	10	120084885	missense	possibly damaging	0.62
R9340:Helb	UTSW	10	120092651	missense	probably damaging	1.00
Z1177:Helb	UTSW	10	120092690	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAAATGTTCATCTTGTCTTGGGAGG -3'
(R):5'- AGGAGCGCATCATTTCTTCC -3'

Sequencing Primer
(F):5'- GTTTTCAgtggtggtgg -3'
(R):5'- TTCCTCAGGCTCGGTCATGG -3'

Posted On

2015-11-11