Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Hells'

173923

Institutional Source

Beutler Lab

Gene Symbol

Hells

Ensembl Gene

ENSMUSG00000025001

Gene Name

helicase, lymphoid specific

Synonyms

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

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38919359-38959495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38956227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 808 (I808L)

Ref Sequence

ENSEMBL: ENSMUSP00000025965 (fasta)

Gene Model

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

AlphaFold

Q60848

Predicted Effect

probably benign
Transcript: ENSMUST00000025965
AA Change: I808L

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: I808L

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

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	G	4: 63,302,129 (GRCm39)	I581L	probably benign	Het
Cacnb4	A	G	2: 52,364,912 (GRCm39)	I117T	possibly damaging	Het
Capn1	A	T	19: 6,047,760 (GRCm39)	F434L	probably benign	Het
Cbs	T	C	17: 31,832,169 (GRCm39)	T547A	probably benign	Het
Col6a5	A	T	9: 105,739,948 (GRCm39)	L2557*	probably null	Het
Dach1	A	G	14: 98,406,550 (GRCm39)	S66P	unknown	Het
Ddx31	T	C	2: 28,782,532 (GRCm39)	V625A	probably benign	Het
Dmxl1	T	G	18: 50,095,328 (GRCm39)	V2969G	probably damaging	Het
Eapp	T	A	12: 54,732,745 (GRCm39)	K122*	probably null	Het
Elapor1	A	T	3: 108,370,306 (GRCm39)	S751T	probably damaging	Het
Epb41l5	G	T	1: 119,477,752 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,471,079 (GRCm39)	S1628P	probably damaging	Het
Fgfr2	T	A	7: 129,844,374 (GRCm39)	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,313,777 (GRCm39)	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,808,861 (GRCm39)	T1727S	probably benign	Het
Gak	A	T	5: 108,750,720 (GRCm39)	S397T	probably damaging	Het
Gm6040	T	A	8: 21,407,113 (GRCm39)	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,661,860 (GRCm39)	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,619,940 (GRCm39)	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,536,861 (GRCm39)	V91G	probably damaging	Het
Icmt	T	A	4: 152,384,172 (GRCm39)	V110E	possibly damaging	Het
Ilrun	A	G	17: 28,012,934 (GRCm39)	S88P	probably damaging	Het
Iqca1	C	T	1: 90,067,760 (GRCm39)	V164M	probably damaging	Het
Klri1	G	A	6: 129,680,299 (GRCm39)	P119S	probably benign	Het
Krt71	C	A	15: 101,647,199 (GRCm39)		probably null	Het
Lpin1	A	G	12: 16,623,659 (GRCm39)		probably null	Het
Macir	A	T	1: 97,573,531 (GRCm39)	I178N	probably damaging	Het
Metap2	T	C	10: 93,706,059 (GRCm39)	H241R	probably damaging	Het
Myh15	A	G	16: 49,015,931 (GRCm39)	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,455,693 (GRCm39)	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,262,594 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,466,434 (GRCm39)	V241A	probably benign	Het
Npbwr1	C	A	1: 5,987,473 (GRCm39)	V14L	probably benign	Het
Nup37	T	A	10: 88,014,096 (GRCm39)	V323E	possibly damaging	Het
Or11g27	A	T	14: 50,771,040 (GRCm39)	Q57L	probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or5p59	C	T	7: 107,702,798 (GRCm39)	T94I	probably benign	Het
Or7a35	C	A	10: 78,853,340 (GRCm39)	Y61*	probably null	Het
Pdlim4	A	T	11: 53,947,080 (GRCm39)	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,875,379 (GRCm39)	D201G	probably benign	Het
Ptk7	A	T	17: 46,897,223 (GRCm39)	F370I	probably benign	Het
Pus7l	T	C	15: 94,431,517 (GRCm39)	N371D	probably benign	Het
Pzp	G	A	6: 128,480,518 (GRCm39)	A589V	probably benign	Het
Rasef	T	A	4: 73,652,786 (GRCm39)	R572W	probably damaging	Het
Reep5	T	C	18: 34,482,712 (GRCm39)	T166A	probably benign	Het
Rhov	A	G	2: 119,101,501 (GRCm39)	V35A	probably damaging	Het
Ripk4	C	T	16: 97,545,097 (GRCm39)	G517R	probably damaging	Het
Rnasel	A	G	1: 153,630,800 (GRCm39)	T439A	probably damaging	Het
Slamf9	A	G	1: 172,304,907 (GRCm39)	T174A	probably benign	Het
Slc12a9	A	G	5: 137,321,411 (GRCm39)	L414P	probably damaging	Het
Slf1	G	A	13: 77,214,767 (GRCm39)	R640*	probably null	Het
Slfn8	G	T	11: 82,907,712 (GRCm39)	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,125,463 (GRCm39)		probably benign	Het
Tm9sf3	A	C	19: 41,211,618 (GRCm39)	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,433 (GRCm39)	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,645,077 (GRCm39)	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,148,018 (GRCm39)	C982R	probably damaging	Het
Usp36	C	T	11: 118,164,392 (GRCm39)	V207M	probably damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vasp	G	A	7: 18,994,903 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,578,513 (GRCm39)	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,434 (GRCm39)	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Wasf2	A	G	4: 132,903,902 (GRCm39)	I37V	probably benign	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zfp317	A	G	9: 19,558,608 (GRCm39)	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,623,195 (GRCm39)	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,754,862 (GRCm39)		probably null	Het

Other mutations in Hells

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02416:Hells	APN	19	38,953,071 (GRCm39)	missense	probably benign
IGL02639:Hells	APN	19	38,926,873 (GRCm39)	missense	probably damaging	0.99
cerberus	UTSW	19	38,943,244 (GRCm39)	missense	probably benign	0.00
charon	UTSW	19	38,943,254 (GRCm39)	missense	probably benign	0.15
erdlischesleben	UTSW	19	38,929,079 (GRCm39)	missense	probably benign	0.08
intentions	UTSW	19	38,945,643 (GRCm39)	missense	probably damaging	1.00
R0543:Hells	UTSW	19	38,956,194 (GRCm39)	missense	probably benign
R1432:Hells	UTSW	19	38,945,628 (GRCm39)	splice site	probably null
R1515:Hells	UTSW	19	38,956,209 (GRCm39)	missense	probably damaging	1.00
R1779:Hells	UTSW	19	38,935,286 (GRCm39)	missense	probably benign	0.43
R1851:Hells	UTSW	19	38,948,120 (GRCm39)	missense	probably null	1.00
R1897:Hells	UTSW	19	38,928,928 (GRCm39)	missense	probably benign
R2040:Hells	UTSW	19	38,943,474 (GRCm39)	missense	probably damaging	0.98
R2571:Hells	UTSW	19	38,948,177 (GRCm39)	missense	possibly damaging	0.67
R4475:Hells	UTSW	19	38,933,973 (GRCm39)	missense	probably damaging	1.00
R4763:Hells	UTSW	19	38,945,643 (GRCm39)	missense	probably damaging	1.00
R4948:Hells	UTSW	19	38,923,966 (GRCm39)	missense	probably damaging	1.00
R5087:Hells	UTSW	19	38,932,189 (GRCm39)	missense	probably benign
R5517:Hells	UTSW	19	38,943,244 (GRCm39)	missense	probably benign	0.00
R5538:Hells	UTSW	19	38,942,096 (GRCm39)	missense	probably benign	0.00
R6107:Hells	UTSW	19	38,942,093 (GRCm39)	missense	probably benign	0.00
R6337:Hells	UTSW	19	38,943,254 (GRCm39)	missense	probably benign	0.15
R6577:Hells	UTSW	19	38,919,909 (GRCm39)	nonsense	probably null
R6618:Hells	UTSW	19	38,945,528 (GRCm39)	missense	probably benign	0.17
R6647:Hells	UTSW	19	38,919,948 (GRCm39)	missense	probably benign	0.01
R6869:Hells	UTSW	19	38,929,079 (GRCm39)	missense	probably benign	0.08
R7471:Hells	UTSW	19	38,945,501 (GRCm39)	missense	probably benign	0.00
R8349:Hells	UTSW	19	38,940,286 (GRCm39)	missense	probably damaging	1.00
R8384:Hells	UTSW	19	38,947,566 (GRCm39)	missense	probably benign	0.36
R8449:Hells	UTSW	19	38,940,286 (GRCm39)	missense	probably damaging	1.00
R8942:Hells	UTSW	19	38,942,045 (GRCm39)	frame shift	probably null
R9061:Hells	UTSW	19	38,933,858 (GRCm39)	missense	probably damaging	1.00
R9240:Hells	UTSW	19	38,935,289 (GRCm39)	missense	possibly damaging	0.91
Z1176:Hells	UTSW	19	38,953,851 (GRCm39)	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

2014-04-24