Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Hells'

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301670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hells

Ensembl Gene

ENSMUSG00000025001

Gene Name

helicase, lymphoid specific

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

38930915-38971051 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38938429 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 84 (L84F)

Ref Sequence

ENSEMBL: ENSMUSP00000116710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025965] [ENSMUST00000145051]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025965
AA Change: L84F

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: L84F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138292

Predicted Effect

probably damaging
Transcript: ENSMUST00000145051
AA Change: L84F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116710
Gene: ENSMUSG00000025001
AA Change: L84F

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
Blast:DEXDc	40	144	5e-24	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155465

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in Hells

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02416:Hells	APN	19	38964627	missense	probably benign
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
R1515:Hells	UTSW	19	38967765	missense	probably damaging	1.00
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
Z1176:Hells	UTSW	19	38965407	missense	possibly damaging	0.92

Posted On

2015-04-16