Mutagenetix > Incidental Mutation

Incidental Mutation 'R2571:Hells'

252619

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

040429-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38919359-38959495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38948177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 701 (V701A)

Ref Sequence

ENSEMBL: ENSMUSP00000025965 (fasta)

Gene Model

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

AlphaFold

Q60848

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025965
AA Change: V701A

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: V701A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,289,044 (GRCm39)	N2438S	probably benign	Het
Ago3	G	A	4: 126,257,604 (GRCm39)	R476W	probably damaging	Het
Akap8	T	C	17: 32,534,429 (GRCm39)	E339G	probably damaging	Het
Apba2	T	C	7: 64,395,498 (GRCm39)	V658A	probably damaging	Het
Bcl3	T	C	7: 19,543,452 (GRCm39)	D338G	probably damaging	Het
Bpnt2	C	T	4: 4,778,192 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,349,044 (GRCm39)	Y197H	probably benign	Het
Ccdc162	T	A	10: 41,428,393 (GRCm39)	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,399,944 (GRCm39)	C21Y	probably damaging	Het
Chil6	A	T	3: 106,297,709 (GRCm39)	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,112,092 (GRCm39)	R461C	probably damaging	Het
Col19a1	T	A	1: 24,413,712 (GRCm39)	R407S	unknown	Het
Crlf3	A	T	11: 79,938,339 (GRCm39)	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah10	A	T	5: 124,852,542 (GRCm39)	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,673,062 (GRCm39)	V911A	probably benign	Het
Dzip3	T	C	16: 48,792,581 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,128,795 (GRCm39)	Q10R	unknown	Het
Glra3	C	T	8: 56,563,516 (GRCm39)	A337V	probably benign	Het
H2-T5	C	T	17: 36,478,553 (GRCm39)	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,544,857 (GRCm39)	F163S	probably damaging	Het
Helz	A	G	11: 107,504,778 (GRCm39)	T422A	probably benign	Het
Hhat	G	A	1: 192,235,330 (GRCm39)	T442I	probably damaging	Het
Hmces	A	T	6: 87,913,202 (GRCm39)	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,350,377 (GRCm39)	T97S	probably damaging	Het
Kcne2	C	T	16: 92,093,800 (GRCm39)	T109I	probably damaging	Het
Kcnq1	T	G	7: 142,661,433 (GRCm39)	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932 (GRCm39)	S1106P	probably benign	Het
Kel	C	A	6: 41,665,001 (GRCm39)	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,706,885 (GRCm39)	F1483I	probably benign	Het
Krt4	T	A	15: 101,829,692 (GRCm39)	N279Y	probably damaging	Het
Lama4	T	A	10: 38,918,671 (GRCm39)	M384K	possibly damaging	Het
Lepr	C	T	4: 101,625,369 (GRCm39)	T508I	possibly damaging	Het
Lypd10	A	G	7: 24,412,819 (GRCm39)	I76V	probably benign	Het
Map1lc3b	T	A	8: 122,320,213 (GRCm39)		probably null	Het
Me1	T	C	9: 86,536,751 (GRCm39)	H108R	probably damaging	Het
Mindy4	T	C	6: 55,261,770 (GRCm39)	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844 (GRCm39)	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,124,896 (GRCm39)	S826P	probably damaging	Het
Or13n4	T	A	7: 106,422,933 (GRCm39)	M267L	probably benign	Het
Osbpl7	T	C	11: 96,945,667 (GRCm39)	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,889,921 (GRCm39)	E310K	probably damaging	Het
Pcif1	A	G	2: 164,726,131 (GRCm39)	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,852,810 (GRCm39)	T63I	probably benign	Het
Prickle2	T	C	6: 92,682,381 (GRCm39)	Q25R	probably benign	Het
Ptk2	A	G	15: 73,103,768 (GRCm39)	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135 (GRCm38)	F333S	probably benign	Het
Rag2	T	A	2: 101,460,312 (GRCm39)	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,587,923 (GRCm39)		probably null	Het
Rps6ka4	G	T	19: 6,815,471 (GRCm39)	H174Q	probably damaging	Het
Rreb1	C	A	13: 38,083,613 (GRCm39)	T92K	probably damaging	Het
Ryr1	A	T	7: 28,708,987 (GRCm39)	M4793K	unknown	Het
Ryr1	T	A	7: 28,735,551 (GRCm39)	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,329,343 (GRCm39)	S891A	probably benign	Het
Sgsh	A	G	11: 119,241,340 (GRCm39)	Y132H	probably damaging	Het
Sos2	T	A	12: 69,682,492 (GRCm39)	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,184,198 (GRCm39)	R580L	probably damaging	Het
Spata9	C	A	13: 76,115,880 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,875,194 (GRCm39)	V202E	probably damaging	Het
Thada	T	C	17: 84,762,068 (GRCm39)	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Tra2a	G	T	6: 49,229,421 (GRCm39)		probably benign	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Ttc13	A	C	8: 125,410,538 (GRCm39)	Y372D	probably damaging	Het
Vit	T	C	17: 78,894,174 (GRCm39)	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,064,764 (GRCm39)	T41A	probably benign	Het
Vps13d	C	A	4: 144,875,706 (GRCm39)	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,335,127 (GRCm39)	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,540,614 (GRCm39)	L376P	probably damaging	Het
Zfp619	T	C	7: 39,186,595 (GRCm39)	L875P	probably damaging	Het
Zic5	T	A	14: 122,696,890 (GRCm39)	Q575L	unknown	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
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'- TGGGAGCAGTTAAGTAGAAAACTTC -3'
(R):5'- GGATAACTGAAGCACAAAATTACCTCG -3'

Sequencing Primer
(F):5'- ACGTGAGTTGTAATTTTTACAGCC -3'
(R):5'- GGGAACTTGAGTCAATTCCCAGC -3'

Posted On

2014-12-04