Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Helb'

32404

Institutional Source

Beutler Lab

Gene Symbol

Helb

Ensembl Gene

ENSMUSG00000020228

Gene Name

helicase (DNA) B

Synonyms

D10Ertd664e

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R0004 (G1)

Quality Score

206

Status

Validated (trace)

Chromosome

Chromosomal Location

120083608-120112987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120108981 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 217 (H217N)

Ref Sequence

ENSEMBL: ENSMUSP00000116954 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020449
AA Change: H217N

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: H217N

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: H217N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: H217N

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

0.1555

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Aff3	T	C	1: 38,269,726	D376G	possibly damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,096	T45A	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndst4	T	A	3: 125,570,826	M384K	probably benign	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,411,959	D29E	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prkaa2	C	T	4: 105,047,091	R263Q	probably null	Het
Prmt9	A	G	8: 77,555,782	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scaf1	T	C	7: 45,007,670		probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	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
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
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
Z1177:Helb	UTSW	10	120092690	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTCTATCTGTAACACGCAGTACATCC -3'
(R):5'- AGAGGACGCTTGCACCACAC -3'

Sequencing Primer
(F):5'- CATGGAAGGAAATTCAAATATTGCC -3'
(R):5'- TCAAAAGGGCCGTAGTTCC -3'

Posted On

2013-05-09