Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Helb'

276736

Institutional Source

Beutler Lab

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R3874 (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 120106037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 249 (I249V)

Ref Sequence

ENSEMBL: ENSMUSP00000116954 (fasta)

Gene Model

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

AlphaFold

Q6NVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000020449
AA Change: I249V

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: I249V

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: ENSMUST00000154501
AA Change: I249V

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: I249V

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: 98.7%
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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	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
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
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'- AGCCCGAGGTCAAGTCTTTTAC -3'
(R):5'- TAGCTAGACAACCTTTTCACCC -3'

Sequencing Primer
(F):5'- ACTTCAATGTACGTGTGTCCG -3'
(R):5'- CTGGGATTTGAACTCAGGACCTC -3'

Posted On

2015-04-06