Mutagenetix > Incidental Mutations

Incidental Mutation 'R7396:Helb'

573834

Institutional Source

Beutler Lab

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120083608-120112987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120089571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 967 (D967G)

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: D967G

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

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: D967G

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
Abcb5	A	G	12: 118,867,874	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,213,661	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,773,829	L185H	probably damaging	Het
Actr1a	G	A	19: 46,379,629	T293I	probably benign	Het
Adig	T	C	2: 158,505,916	L50P	unknown	Het
Ankrd28	A	G	14: 31,702,202	S994P	probably benign	Het
Ankrd35	T	A	3: 96,683,497	D366E	probably damaging	Het
Aqr	A	T	2: 114,119,946	Y927*	probably null	Het
Asxl2	T	A	12: 3,442,529	I38N	probably damaging	Het
Atp9b	T	C	18: 80,736,842	I1092V		Het
B4galnt1	A	G	10: 127,171,616	E462G	possibly damaging	Het
BC048671	T	A	6: 90,303,291	V63E	probably damaging	Het
BC067074	T	A	13: 113,318,990	S523R		Het
Bod1l	A	G	5: 41,831,546	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,461,498	I234L	probably benign	Het
Camk2b	A	C	11: 5,978,432	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,143,745		probably null	Het
Ces1b	G	T	8: 93,063,129	N390K	probably benign	Het
Chpf	T	C	1: 75,475,283	Q671R	probably benign	Het
Dbr1	C	A	9: 99,583,390	N340K	probably damaging	Het
Dram1	T	A	10: 88,340,645	T73S	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Efemp1	A	T	11: 28,867,501	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,506,137	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,166,374	N434I	probably benign	Het
Ercc6	C	T	14: 32,569,805	T1042I	probably benign	Het
Etl4	C	T	2: 20,798,638	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,449,023	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,688,886	D344G	probably benign	Het
Fgf15	G	T	7: 144,899,805	V172L	probably benign	Het
Fmod	T	C	1: 134,040,240	V6A	probably benign	Het
Furin	C	A	7: 80,398,114	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207	V297A	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hmcn1	T	C	1: 150,563,631	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,233,419	P70Q	not run	Het
Hsd17b1	T	C	11: 101,079,207	V155A	probably damaging	Het
Ireb2	T	A	9: 54,882,333	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,762,447	L397F	probably benign	Het
Lcorl	A	T	5: 45,857,459		probably null	Het
Lgi2	A	T	5: 52,538,411	I402N	probably damaging	Het
Lrat	T	A	3: 82,903,283	R144*	probably null	Het
Mfhas1	G	T	8: 35,590,199	L609F	probably damaging	Het
Mink1	T	A	11: 70,605,168	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,808,415	D1821V	unknown	Het
Myh2	T	C	11: 67,194,728		probably null	Het
Ncor1	T	C	11: 62,343,218	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,566,603	V76M	probably damaging	Het
Neurod4	T	C	10: 130,271,022	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,038,987	D59E	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,307	V205A	probably benign	Het
Olfr531	C	T	7: 140,400,563	R161H	probably benign	Het
Olfr667	C	T	7: 104,916,351	S315N	probably benign	Het
Pcdh15	T	A	10: 74,630,690	V1513D	probably benign	Het
Pclo	C	A	5: 14,539,888	T734K	unknown	Het
Phc2	A	G	4: 128,748,161	R759G	probably benign	Het
Plch1	A	T	3: 63,698,954	N1176K	probably benign	Het
Plec	T	A	15: 76,174,889	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,144,644	T426N	probably benign	Het
Rictor	A	G	15: 6,786,981	T1245A	not run	Het
Rilp	T	C	11: 75,510,886	V164A	probably damaging	Het
Rnf39	A	T	17: 36,947,079	T168S	probably damaging	Het
Rptor	C	G	11: 119,872,355	Q922E	probably benign	Het
Sall1	A	T	8: 89,032,768	L236Q	probably damaging	Het
Skint7	A	G	4: 111,988,127	T379A	probably benign	Het
Spata22	C	A	11: 73,345,876	T336N	probably damaging	Het
Spata31	T	C	13: 64,920,733	S232P	probably benign	Het
Spink5	T	A	18: 43,977,655	C98S	possibly damaging	Het
Stard6	T	C	18: 70,500,435	V171A	possibly damaging	Het
Tex9	A	T	9: 72,480,790		probably null	Het
Traf7	T	C	17: 24,509,545	D621G	probably damaging	Het
Trak1	C	T	9: 121,448,907	T353M	possibly damaging	Het
Trim68	A	T	7: 102,678,362	Y461*	probably null	Het
Usp1	A	G	4: 98,926,451		probably benign	Het
Vmn2r42	T	A	7: 8,192,642	I502F	probably benign	Het
Wbp4	C	A	14: 79,476,821	G84C	probably damaging	Het
Zfp787	A	G	7: 6,132,107	*382Q	probably null	Het
Zfp831	G	T	2: 174,645,209	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,366,089	A140P	probably benign	Het
Zscan4e	T	A	7: 11,307,075	Y290F	probably benign	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
R4734:Helb	UTSW	10	120084849	missense	probably benign
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
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'- GAATACGAGGGAACATGGCTCC -3'
(R):5'- AGAGTGTACATCATCGCGC -3'

Sequencing Primer
(F):5'- CCTACCATACGGAATTTACTGGGG -3'
(R):5'- AGTCTGAACTCAGGAGTGCCAC -3'

Posted On

2019-09-13