Mutagenetix > Incidental Mutation

Incidental Mutation 'R7471:Hells'

579228

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

045545-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38919359-38959495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38945501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 580 (N580S)

Ref Sequence

ENSEMBL: ENSMUSP00000025965 (fasta)

Gene Model

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

AlphaFold

Q60848

Predicted Effect

probably benign
Transcript: ENSMUST00000025965
AA Change: N580S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: N580S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,168,608 (GRCm39)		probably null	Het
Ace	T	C	11: 105,864,308 (GRCm39)	V483A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Angptl2	A	T	2: 33,133,751 (GRCm39)	T358S	possibly damaging	Het
Apoh	C	T	11: 108,298,131 (GRCm39)	P144S	probably damaging	Het
Arid1a	A	G	4: 133,408,355 (GRCm39)	W1666R	unknown	Het
Asap3	A	G	4: 135,960,957 (GRCm39)	H223R	possibly damaging	Het
Bcl2l12	A	G	7: 44,645,977 (GRCm39)	S81P	possibly damaging	Het
Brd10	A	C	19: 29,707,139 (GRCm39)		probably null	Het
C8a	A	G	4: 104,674,822 (GRCm39)	S550P	probably benign	Het
Cacna2d1	C	G	5: 16,139,973 (GRCm39)		probably benign	Het
Ccdc170	A	G	10: 4,470,803 (GRCm39)	T216A	probably benign	Het
Chd7	A	T	4: 8,859,197 (GRCm39)	K2429I	probably damaging	Het
Chd8	T	C	14: 52,441,569 (GRCm39)	N2181S	probably benign	Het
Cimap1c	C	T	9: 56,759,783 (GRCm39)		probably null	Het
Clip3	T	C	7: 30,001,377 (GRCm39)	V342A	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Cyp20a1	T	C	1: 60,393,799 (GRCm39)	F139S	probably damaging	Het
Dclre1b	T	A	3: 103,710,430 (GRCm39)	R494W	probably benign	Het
Dicer1	A	G	12: 104,660,969 (GRCm39)	I1695T	probably damaging	Het
Dnah7a	A	G	1: 53,458,858 (GRCm39)	L3760P	probably damaging	Het
Dock1	A	G	7: 134,765,072 (GRCm39)	D1688G	possibly damaging	Het
Drosha	G	A	15: 12,889,742 (GRCm39)	R870Q	probably damaging	Het
Dsg2	G	T	18: 20,713,675 (GRCm39)	M215I	probably benign	Het
Dst	A	T	1: 34,233,651 (GRCm39)	D3453V	possibly damaging	Het
Epha10	A	T	4: 124,796,365 (GRCm39)	Y358F		Het
Ermp1	A	T	19: 29,590,054 (GRCm39)	M853K	probably benign	Het
Hace1	T	G	10: 45,577,075 (GRCm39)	I823S	probably benign	Het
Hectd3	A	T	4: 116,853,785 (GRCm39)	Y227F	probably benign	Het
Igkv12-44	A	G	6: 69,791,718 (GRCm39)	F82L	probably damaging	Het
Inpp5d	A	G	1: 87,623,122 (GRCm39)	D405G	probably damaging	Het
Itsn2	G	A	12: 4,758,198 (GRCm39)	R1508H	probably benign	Het
Limk1	A	T	5: 134,686,825 (GRCm39)		probably null	Het
Lingo1	T	A	9: 56,528,167 (GRCm39)	K147*	probably null	Het
Ltn1	T	C	16: 87,194,787 (GRCm39)	S1371G	probably benign	Het
Mab21l1	A	G	3: 55,691,307 (GRCm39)	D298G	possibly damaging	Het
Macf1	A	T	4: 123,366,082 (GRCm39)	V2893E	probably benign	Het
Mapk8ip1	T	C	2: 92,219,489 (GRCm39)	D114G	probably benign	Het
Med15	A	T	16: 17,540,729 (GRCm39)	W6R	probably benign	Het
Mrps34	T	C	17: 25,114,431 (GRCm39)	L97P	probably damaging	Het
Myrfl	A	T	10: 116,697,417 (GRCm39)	F36I	possibly damaging	Het
Nifk	G	A	1: 118,260,204 (GRCm39)	S253N	probably damaging	Het
Nmnat1	T	A	4: 149,557,758 (GRCm39)	T95S	probably damaging	Het
Oasl1	T	A	5: 115,073,985 (GRCm39)	I298N	probably damaging	Het
Or51a8	A	G	7: 102,549,760 (GRCm39)	Y62C	probably benign	Het
Or56b35	T	G	7: 104,963,712 (GRCm39)	L167R	probably damaging	Het
Or8g37	A	T	9: 39,731,423 (GRCm39)	M163L	probably benign	Het
Polr2b	C	T	5: 77,468,913 (GRCm39)	R230*	probably null	Het
Prkra	T	A	2: 76,477,545 (GRCm39)	E53D	probably benign	Het
Rasgrp4	T	A	7: 28,845,405 (GRCm39)	L376Q	probably damaging	Het
Rwdd3	A	G	3: 120,964,961 (GRCm39)	S65P	probably benign	Het
Satb1	G	A	17: 52,090,029 (GRCm39)	P273S	probably damaging	Het
Scg3	T	C	9: 75,589,374 (GRCm39)	E93G	probably damaging	Het
Sf3a1	T	C	11: 4,117,724 (GRCm39)	F162S	possibly damaging	Het
Sorcs1	A	G	19: 50,250,701 (GRCm39)	Y377H	probably damaging	Het
Sptbn4	G	A	7: 27,108,439 (GRCm39)	A661V	possibly damaging	Het
Stk36	A	G	1: 74,673,479 (GRCm39)	N996S	unknown	Het
Tbca	A	T	13: 94,968,923 (GRCm39)	I37F	probably damaging	Het
Tc2n	A	T	12: 101,672,716 (GRCm39)	V75E	probably damaging	Het
Tdrkh	A	T	3: 94,333,263 (GRCm39)	S243C	probably damaging	Het
Tjp1	T	C	7: 64,964,438 (GRCm39)	D911G	probably damaging	Het
Tmbim6	A	G	15: 99,299,324 (GRCm39)		probably benign	Het
Tob1	T	A	11: 94,104,708 (GRCm39)	D81E	probably benign	Het
Ttpal	T	A	2: 163,448,945 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,534,787 (GRCm39)		probably null	Het
Vmn1r235	A	G	17: 21,482,658 (GRCm39)	I328V	probably benign	Het
Vmn1r28	T	A	6: 58,242,850 (GRCm39)	L231*	probably null	Het
Xirp1	G	A	9: 119,848,176 (GRCm39)	Q236*	probably null	Het
Zc3h7b	A	G	15: 81,664,682 (GRCm39)	T514A	probably damaging	Het
Zfp524	A	G	7: 5,021,200 (GRCm39)	I243V	probably benign	Het
Zfp655	T	A	5: 145,181,542 (GRCm39)	Y467N	possibly damaging	Het
Zfp985	A	T	4: 147,667,388 (GRCm39)	K85N	possibly 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
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
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'- GAGTTGTAGGAAATGTGAATCATGT -3'
(R):5'- CCAACATGCTTGTCATTTGTGA -3'

Sequencing Primer
(F):5'- GGTAACACATGCCTTTTATACCAGC -3'
(R):5'- GCTTGTCATTTGTGAAAACACCAG -3'

Posted On

2019-10-07