Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Hells'

212093

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

039917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38930915-38971051 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38940484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 100 (V100A)

Ref Sequence

ENSEMBL: ENSMUSP00000116710 (fasta)

Gene Model

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

AlphaFold

Q60848

Predicted Effect

probably benign
Transcript: ENSMUST00000025965
AA Change: V100A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: V100A

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: ENSMUST00000128949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138292

Predicted Effect

probably benign
Transcript: ENSMUST00000145051
AA Change: V100A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116710
Gene: ENSMUSG00000025001
AA Change: V100A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,558,818	S61G	probably damaging	Het
Acot12	A	G	13: 91,784,397	N504S	probably benign	Het
Adcy3	C	T	12: 4,173,450		probably benign	Het
Adcyap1r1	A	T	6: 55,479,194	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,129,001	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,502,525	T510K	probably damaging	Het
Apol7e	A	T	15: 77,717,894	M231L	probably benign	Het
Asb1	C	A	1: 91,546,925		probably null	Het
Atf7ip2	C	T	16: 10,211,084	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,738,429	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,196,042	M884L	probably benign	Het
Ccdc93	A	G	1: 121,491,212	I499V	probably benign	Het
Ccl20	A	G	1: 83,117,895	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,045,193	T626A	possibly damaging	Het
Cep250	A	G	2: 155,976,095	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,474,047	L281P	probably damaging	Het
Col6a6	A	T	9: 105,785,744	M198K	possibly damaging	Het
Crocc	G	A	4: 141,018,736	R1691C	probably damaging	Het
Csf1	C	T	3: 107,748,279	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164	M86R	probably benign	Het
Dbndd2	T	C	2: 164,488,664	F79S	probably damaging	Het
Dkk1	G	T	19: 30,549,278	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,181,762	L619F	probably benign	Het
Eif2b5	T	C	16: 20,507,037	V588A	probably damaging	Het
Elf3	A	T	1: 135,257,137	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,436,610	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,558,203	C188*	probably null	Het
Fbxw8	T	C	5: 118,128,876	Y174C	probably benign	Het
Gnl1	C	A	17: 35,988,692	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992	S292P	probably benign	Het
Gsk3b	G	A	16: 38,217,084		probably null	Het
Hcls1	C	T	16: 36,962,643	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,422,285		probably benign	Het
Hecw1	A	G	13: 14,377,940	S25P	probably damaging	Het
Isl1	C	T	13: 116,303,330	E161K	probably benign	Het
Klra9	G	T	6: 130,185,592	N160K	possibly damaging	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Mpc1	G	A	17: 8,296,878	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,292,241	N1377I	probably benign	Het
Myrf	T	C	19: 10,218,232	I607V	probably benign	Het
Olfr123	T	G	17: 37,796,184	S247A	probably benign	Het
Olfr968	A	T	9: 39,772,065	I245K	probably damaging	Het
Pik3c2b	A	G	1: 133,066,916	D206G	possibly damaging	Het
Pipox	A	G	11: 77,882,742	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,560,095	V401D	possibly damaging	Het
Plod1	C	T	4: 147,926,200	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,680,405		probably null	Het
Qars	C	T	9: 108,514,083	Q7*	probably null	Het
Rpap2	T	A	5: 107,633,095	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Rusc2	A	G	4: 43,421,749	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,750,932	M1306K	probably benign	Het
Sesn3	A	C	9: 14,308,645	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511	V319I	probably benign	Het
Slc15a5	G	T	6: 138,079,764	F51L	possibly damaging	Het
Slit2	T	A	5: 48,238,423	C723S	probably damaging	Het
Sncaip	A	G	18: 52,894,790		probably null	Het
Snx2	T	A	18: 53,197,878	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,654	L126*	probably null	Het
Stam	T	C	2: 14,129,026	S195P	probably damaging	Het
Strn	T	C	17: 78,682,842	I82V	probably benign	Het
Synj2	T	A	17: 6,022,137	C202*	probably null	Het
Tecpr2	A	G	12: 110,933,247	D683G	probably benign	Het
Tfec	A	G	6: 16,835,308	V157A	probably damaging	Het
Tff1	T	G	17: 31,164,938	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,452,445	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,471,960	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,733,304	K577E	probably damaging	Het
Vrk1	T	C	12: 106,036,540		probably benign	Het
Wdr20	A	G	12: 110,793,723	T348A	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
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
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
R9061:Hells	UTSW	19	38945414	missense	probably damaging	1.00
R9240:Hells	UTSW	19	38946845	missense	possibly damaging	0.91
Z1176:Hells	UTSW	19	38965407	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCTATGTTTGGGCGATCATGGA -3'
(R):5'- CCTCTTTTGACATGACCTCTGAAAT -3'

Sequencing Primer
(F):5'- GGCACTAGATGTTCTTCCAGAGAC -3'
(R):5'- TTAATAGCAGCTAAAAACAGAAG -3'

Posted On

2014-06-30