Mutagenetix > Incidental Mutation

Incidental Mutation 'R5538:Hells'

434963

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

043096-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38919359-38959495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38942096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 462 (F462Y)

Ref Sequence

ENSEMBL: ENSMUSP00000025965 (fasta)

Gene Model

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

AlphaFold

Q60848

Predicted Effect

probably benign
Transcript: ENSMUST00000025965
AA Change: F462Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: F462Y

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

0.0931

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (73/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,581,808 (GRCm39)	R4745S	probably benign	Het
Ank3	A	G	10: 69,823,257 (GRCm39)	E642G	probably damaging	Het
Arhgap11a	G	T	2: 113,667,875 (GRCm39)	D375E	probably benign	Het
Arl8b	C	A	6: 108,760,297 (GRCm39)	L28M	probably damaging	Het
Bbs2	G	A	8: 94,816,391 (GRCm39)	T157M	probably damaging	Het
C2cd3	T	A	7: 100,104,700 (GRCm39)		probably null	Het
C6	T	A	15: 4,844,311 (GRCm39)	I911N	possibly damaging	Het
Cc2d2a	T	C	5: 43,852,518 (GRCm39)	I365T	possibly damaging	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Ceacam3	A	T	7: 16,892,346 (GRCm39)	D363V	probably damaging	Het
Cep63	A	T	9: 102,465,992 (GRCm39)	L678*	probably null	Het
Clasrp	A	C	7: 19,318,707 (GRCm39)		probably benign	Het
Clk2	T	A	3: 89,082,962 (GRCm39)	Y412N	probably damaging	Het
Col24a1	C	T	3: 144,998,882 (GRCm39)	A5V	probably damaging	Het
Cox16	T	C	12: 81,531,703 (GRCm39)	N13D	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx32	A	T	7: 133,324,946 (GRCm39)	M437K	probably benign	Het
Dnm2	T	C	9: 21,416,923 (GRCm39)	F819L	probably benign	Het
Dpysl4	A	G	7: 138,671,906 (GRCm39)	T85A	probably benign	Het
Dspp	A	T	5: 104,323,096 (GRCm39)	K80*	probably null	Het
Dync2h1	T	C	9: 7,168,630 (GRCm39)		probably benign	Het
Ern1	A	G	11: 106,312,727 (GRCm39)	V218A	possibly damaging	Het
Fbn2	G	A	18: 58,204,973 (GRCm39)	R1157C	probably benign	Het
Fez1	T	A	9: 36,780,172 (GRCm39)	I323N	probably damaging	Het
Fmo9	T	A	1: 166,501,198 (GRCm39)	T199S	probably benign	Het
Fry	T	A	5: 150,419,313 (GRCm39)	L915Q	probably damaging	Het
Gatd1	A	G	7: 140,986,758 (GRCm39)		probably benign	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gnpda2	A	T	5: 69,735,394 (GRCm39)	H230Q	probably damaging	Het
Gramd1c	T	A	16: 43,802,455 (GRCm39)	N652I	probably damaging	Het
H2-T13	T	A	17: 36,392,178 (GRCm39)	H178L	probably benign	Het
Htr7	A	G	19: 35,947,235 (GRCm39)	F260L	probably benign	Het
Itsn1	C	A	16: 91,580,990 (GRCm39)	A23D	probably damaging	Het
Jak3	A	G	8: 72,131,417 (GRCm39)	D94G	probably benign	Het
Kctd16	T	A	18: 40,390,319 (GRCm39)	Y97*	probably null	Het
Kif20b	A	T	19: 34,930,364 (GRCm39)	K25*	probably null	Het
Klf2	T	C	8: 73,073,316 (GRCm39)	L40P	probably damaging	Het
Kmt2a	A	G	9: 44,731,639 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lonrf1	T	A	8: 36,690,178 (GRCm39)		probably null	Het
Lrp1b	A	T	2: 40,587,486 (GRCm39)	I154K	unknown	Het
Mybpc1	T	A	10: 88,381,891 (GRCm39)	I600L	possibly damaging	Het
Npnt	T	C	3: 132,610,724 (GRCm39)	N285S	probably damaging	Het
Or4c12b	T	A	2: 89,646,964 (GRCm39)	F92Y	probably damaging	Het
Or51h5	A	G	7: 102,577,728 (GRCm39)	T298A	probably damaging	Het
Or6c69	T	A	10: 129,747,871 (GRCm39)	Y92F	probably benign	Het
Or6n1	T	C	1: 173,917,544 (GRCm39)	*313R	probably null	Het
Pcnx1	T	C	12: 81,907,183 (GRCm39)	V13A	probably damaging	Het
Phkb	G	A	8: 86,648,756 (GRCm39)	V191I	possibly damaging	Het
Pnpla6	A	G	8: 3,581,508 (GRCm39)	M594V	probably benign	Het
Potefam3e	A	C	8: 19,799,430 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,469,333 (GRCm39)	E146G	probably damaging	Het
Ror1	T	C	4: 100,298,208 (GRCm39)	M527T	probably benign	Het
Scnm1	A	G	3: 95,037,066 (GRCm39)		probably benign	Het
Skint11	A	T	4: 114,088,959 (GRCm39)	N251I	probably damaging	Het
Slc19a3	T	A	1: 83,000,282 (GRCm39)	N245I	possibly damaging	Het
Slc1a3	A	T	15: 8,675,188 (GRCm39)	D272E	probably damaging	Het
Smok2b	T	A	17: 13,454,440 (GRCm39)	V200D	possibly damaging	Het
Sspo	T	C	6: 48,429,112 (GRCm39)	Y417H	probably damaging	Het
Stk11ip	C	A	1: 75,504,979 (GRCm39)	S388R	probably damaging	Het
Svep1	T	C	4: 58,049,282 (GRCm39)		probably null	Het
Sytl2	A	G	7: 90,038,114 (GRCm39)	I525V	probably benign	Het
Tie1	T	C	4: 118,343,390 (GRCm39)	N158D	probably benign	Het
Tle2	T	C	10: 81,416,418 (GRCm39)	L180P	probably damaging	Het
Txlnb	T	C	10: 17,714,657 (GRCm39)	L363P	probably damaging	Het
Upk3b	C	G	5: 136,072,890 (GRCm39)	A258G	probably benign	Het
Usp32	A	T	11: 84,908,612 (GRCm39)	D1031E	possibly damaging	Het
Vmn2r116	C	T	17: 23,620,041 (GRCm39)	L592F	probably benign	Het
Zfp607b	A	G	7: 27,402,294 (GRCm39)	H250R	probably damaging	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
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
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'- AGGCGTGTTTAGAGTGTCCC -3'
(R):5'- TCACAAAGTTCTGAGAATGGGTG -3'

Sequencing Primer
(F):5'- GTTTAGAGTGTCCCTAAGGAGAG -3'
(R):5'- ATGTTATGCCATGGCCGAAC -3'

Posted On

2016-10-24