Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Hells'

225607

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

040047-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38919359-38959495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38943474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 565 (D565G)

Ref Sequence

ENSEMBL: ENSMUSP00000025965 (fasta)

Gene Model

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

AlphaFold

Q60848

Predicted Effect

probably damaging
Transcript: ENSMUST00000025965
AA Change: D565G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: D565G

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: ENSMUST00000127968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155465

Meta Mutation Damage Score

0.1545

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,607 (GRCm39)	I75L	probably benign	Het
Abca2	T	C	2: 25,333,817 (GRCm39)	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,454,364 (GRCm39)	I394L	probably benign	Het
Ano2	T	A	6: 126,016,471 (GRCm39)	N1001K	probably benign	Het
Arap2	A	T	5: 62,906,259 (GRCm39)	N253K	probably damaging	Het
Ascc3	T	C	10: 50,604,227 (GRCm39)	C1316R	probably benign	Het
Atox1	T	C	11: 55,341,343 (GRCm39)	Y64C	probably benign	Het
Atp13a1	A	G	8: 70,259,702 (GRCm39)	T1098A	possibly damaging	Het
Casr	T	C	16: 36,330,728 (GRCm39)	E202G	possibly damaging	Het
Cct2	T	C	10: 116,889,018 (GRCm39)	T494A	probably benign	Het
Cd209e	T	A	8: 3,899,158 (GRCm39)	N185Y	probably damaging	Het
Celsr1	A	G	15: 85,917,088 (GRCm39)	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,686,499 (GRCm39)	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,121,567 (GRCm39)	S37G	probably benign	Het
Fbh1	T	G	2: 11,774,706 (GRCm39)	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem3	G	T	8: 81,342,455 (GRCm39)	V1583L	possibly damaging	Het
Gm21863	C	A	12: 20,004,515 (GRCm39)	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,452,132 (GRCm39)	T25A	possibly damaging	Het
Gm8674	T	C	13: 50,055,705 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,752,651 (GRCm39)	H897R	probably damaging	Het
Hfm1	C	T	5: 107,049,684 (GRCm39)	V426I	probably damaging	Het
Ints6	G	A	14: 62,951,138 (GRCm39)	T297I	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,268,845 (GRCm39)	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,938,069 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,815,807 (GRCm39)	D1230E	probably benign	Het
Mboat1	T	C	13: 30,425,300 (GRCm39)		probably null	Het
Moxd2	T	C	6: 40,861,887 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,495,916 (GRCm39)	M527T	probably damaging	Het
Myt1	T	A	2: 181,467,717 (GRCm39)	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,248,000 (GRCm39)	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,261,875 (GRCm39)	C48Y	probably damaging	Het
Opn3	G	A	1: 175,491,145 (GRCm39)	A296V	possibly damaging	Het
Or13a22	T	C	7: 140,073,295 (GRCm39)	I248T	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Pam	T	C	1: 97,792,167 (GRCm39)	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,525,126 (GRCm39)	N493K	probably damaging	Het
Ptpn18	A	G	1: 34,509,300 (GRCm39)	Q165R	probably damaging	Het
Ptpro	C	A	6: 137,363,162 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,833,107 (GRCm39)	F132S	probably damaging	Het
Robo1	T	C	16: 72,730,630 (GRCm39)	C244R	probably damaging	Het
Robo3	A	C	9: 37,338,760 (GRCm39)	V316G	probably damaging	Het
Rsl1	T	C	13: 67,330,145 (GRCm39)	S198P	probably damaging	Het
Rsph9	T	C	17: 46,445,910 (GRCm39)	D220G	probably damaging	Het
Rxfp2	A	C	5: 149,993,677 (GRCm39)	I580L	probably benign	Het
Septin7	G	A	9: 25,199,532 (GRCm39)	A144T	possibly damaging	Het
Sfn	T	C	4: 133,328,603 (GRCm39)	K160E	probably benign	Het
Ski	A	G	4: 155,306,029 (GRCm39)	Y317H	probably damaging	Het
Skic3	A	C	13: 76,328,222 (GRCm39)	R1423S	probably damaging	Het
Slc22a22	A	T	15: 57,110,936 (GRCm39)	Y430*	probably null	Het
Src	A	G	2: 157,299,030 (GRCm39)	K9R	probably benign	Het
Srm	C	T	4: 148,678,453 (GRCm39)	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,730,075 (GRCm39)	N90I	probably damaging	Het
Sytl2	T	A	7: 90,031,069 (GRCm39)		probably benign	Het
Tbpl2	T	C	2: 23,984,871 (GRCm39)	K92R	probably benign	Het
Tlcd4	G	T	3: 121,024,975 (GRCm39)		probably benign	Het
Tmem38a	T	A	8: 73,335,096 (GRCm39)	N178K	probably damaging	Het
Tnfaip3	T	C	10: 18,883,900 (GRCm39)	D160G	possibly damaging	Het
Vegfb	T	A	19: 6,963,407 (GRCm39)	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,395 (GRCm39)	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,661,561 (GRCm39)	L436F	probably damaging	Het
Wdr47	T	C	3: 108,530,688 (GRCm39)	C394R	probably benign	Het
Ythdc2	T	A	18: 44,988,241 (GRCm39)	Y16*	probably null	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,535,333 (GRCm39)		noncoding transcript	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
R1646:Hells	UTSW	19	38,956,227 (GRCm39)	missense	probably benign	0.19
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
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'- GTCAAATACAGCCAGAAGTAAACAG -3'
(R):5'- AGTAAATGAATGAAATGGCTTAGTGT -3'

Sequencing Primer
(F):5'- TACAGCCAGAAGTAAACAGAGAGAG -3'
(R):5'- TTTAATCCCAGCACTCAGGAGG -3'

Posted On

2014-08-25