Mutagenetix > Incidental Mutations

Incidental Mutation 'R1515:Hells'

168259

Institutional Source

Beutler Lab

Gene Symbol

Hells

Ensembl Gene

ENSMUSG00000025001

Gene Name

helicase, lymphoid specific

Synonyms

YFK8, LSH, proliferation-associated SNF2-like, PASG, Lysh, E130115I21Rik

MMRRC Submission

039562-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38930915-38971051 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38967765 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 802 (K802E)

Ref Sequence

ENSEMBL: ENSMUSP00000025965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025965]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025965
AA Change: K802E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: K802E

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
Blast:DEXDc	40	144	4e-22	BLAST
DEXDc	202	394	7.04e-31	SMART
HELICc	612	695	5.6e-25	SMART
low complexity region	775	791	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a null allele show DNA hypomethylation, delayed growth, multiorgan and skeletal defects, premature graying, alopecia, low fat deposition, kyphosis, cachexia and early death. Homozygotes for another null allele show neonatal death, low birth weight, lymphoid defects and renal lesions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	Het

Other mutations in Hells

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02416:Hells	APN	19	38964627	missense	probably benign
IGL02639:Hells	APN	19	38938429	missense	probably damaging	0.99
cerberus	UTSW	19	38954800	missense	probably benign	0.00
charon	UTSW	19	38954810	missense	probably benign	0.15
erdlischesleben	UTSW	19	38940635	missense	probably benign	0.08
intentions	UTSW	19	38957199	missense	probably damaging	1.00
R0543:Hells	UTSW	19	38967750	missense	probably benign
R1432:Hells	UTSW	19	38957184	splice site	probably null
R1646:Hells	UTSW	19	38967783	missense	probably benign	0.19
R1779:Hells	UTSW	19	38946842	missense	probably benign	0.43
R1851:Hells	UTSW	19	38959676	missense	probably null	1.00
R1897:Hells	UTSW	19	38940484	missense	probably benign
R2040:Hells	UTSW	19	38955030	missense	probably damaging	0.98
R2571:Hells	UTSW	19	38959733	missense	possibly damaging	0.67
R4475:Hells	UTSW	19	38945529	missense	probably damaging	1.00
R4763:Hells	UTSW	19	38957199	missense	probably damaging	1.00
R4948:Hells	UTSW	19	38935522	missense	probably damaging	1.00
R5087:Hells	UTSW	19	38943745	missense	probably benign
R5517:Hells	UTSW	19	38954800	missense	probably benign	0.00
R5538:Hells	UTSW	19	38953652	missense	probably benign	0.00
R6107:Hells	UTSW	19	38953649	missense	probably benign	0.00
R6337:Hells	UTSW	19	38954810	missense	probably benign	0.15
R6577:Hells	UTSW	19	38931465	nonsense	probably null
R6618:Hells	UTSW	19	38957084	missense	probably benign	0.17
R6647:Hells	UTSW	19	38931504	missense	probably benign	0.01
R6869:Hells	UTSW	19	38940635	missense	probably benign	0.08
R7471:Hells	UTSW	19	38957057	missense	probably benign	0.00
R8349:Hells	UTSW	19	38951842	missense	probably damaging	1.00
R8384:Hells	UTSW	19	38959122	missense	probably benign	0.36
R8449:Hells	UTSW	19	38951842	missense	probably damaging	1.00
R8942:Hells	UTSW	19	38953601	frame shift	probably null
Z1176:Hells	UTSW	19	38965407	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCGTTCAAACTCTGCATGATTGTCTC -3'
(R):5'- TTCCACAGGAAGACTGATAAACTTGGC -3'

Sequencing Primer
(F):5'- GGGAAAGAATATCCCACAATTCTCTG -3'
(R):5'- AAGACTGATAAACTTGGCAATGG -3'

Posted On

2014-04-13