Incidental Mutation 'IGL02639:Hells'
ID301670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hells
Ensembl Gene ENSMUSG00000025001
Gene Namehelicase, lymphoid specific
SynonymsYFK8, LSH, proliferation-associated SNF2-like, PASG, Lysh, E130115I21Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02639
Quality Score
Status
Chromosome19
Chromosomal Location38930915-38971051 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 38938429 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 84 (L84F)
Ref Sequence ENSEMBL: ENSMUSP00000116710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025965] [ENSMUST00000145051]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025965
AA Change: L84F

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: L84F

DomainStartEndE-ValueType
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: ENSMUST00000128949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138292
Predicted Effect probably damaging
Transcript: ENSMUST00000145051
AA Change: L84F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116710
Gene: ENSMUSG00000025001
AA Change: L84F

DomainStartEndE-ValueType
low complexity region 13 29 N/A INTRINSIC
Blast:DEXDc 40 144 5e-24 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155465
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,429,804 R71* probably null Het
Abca5 A T 11: 110,288,073 I1140N possibly damaging Het
Atp6v0a1 T A 11: 101,055,518 I773N possibly damaging Het
Atp9a A G 2: 168,649,620 M675T probably damaging Het
Baz1a A G 12: 54,896,025 probably benign Het
Cd5l T C 3: 87,368,506 V261A probably damaging Het
Copb1 A G 7: 114,226,595 probably benign Het
Cul5 T C 9: 53,655,342 D130G possibly damaging Het
Cyp2j5 T A 4: 96,658,749 Q176L probably benign Het
D430042O09Rik A G 7: 125,872,792 I1518V probably damaging Het
Ddo A G 10: 40,647,737 D241G probably damaging Het
Defa29 A G 8: 21,326,121 C77R possibly damaging Het
Dpp4 T C 2: 62,352,240 N566D probably benign Het
Emilin2 T C 17: 71,274,549 D394G probably benign Het
Fbf1 T C 11: 116,152,600 E461G probably benign Het
Fgfr2 A G 7: 130,228,802 probably benign Het
Fibcd1 G A 2: 31,817,150 T365M probably damaging Het
Fndc3a A C 14: 72,574,357 H344Q probably benign Het
Fnip1 T A 11: 54,475,640 C52* probably null Het
Fto T A 8: 91,409,528 N143K probably damaging Het
Gm2035 G T 12: 87,919,499 T120K probably benign Het
Hydin G A 8: 110,538,449 V2755I probably benign Het
Irgq C A 7: 24,531,462 A26E probably damaging Het
Klhl29 A T 12: 5,137,453 Y304N probably damaging Het
Muc6 T C 7: 141,649,578 probably benign Het
Myo15 T C 11: 60,478,621 F736L probably benign Het
Nynrin G T 14: 55,870,655 W1073L probably damaging Het
Olfr116 A T 17: 37,623,987 I216N probably benign Het
Olfr1490 A T 19: 13,654,596 T51S possibly damaging Het
Olfr310 A T 7: 86,269,720 I23N probably damaging Het
Olfr389 A T 11: 73,776,545 C261S probably benign Het
Olfr63 G A 17: 33,269,395 V224M possibly damaging Het
Olfr642 C A 7: 104,049,781 C191F probably damaging Het
Olfr675 T A 7: 105,024,222 I253F probably damaging Het
Pdzd2 T A 15: 12,592,243 K105M probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pola2 A G 19: 5,953,774 V191A probably benign Het
Slc22a8 A T 19: 8,593,959 Y18F probably benign Het
Slc26a5 C T 5: 21,819,767 V440M probably damaging Het
Other mutations in Hells
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02416:Hells APN 19 38964627 missense probably benign
cerberus UTSW 19 38954800 missense probably benign 0.00
charon UTSW 19 38954810 missense probably benign 0.15
intentions UTSW 19 38957199 missense probably damaging 1.00
purgatory UTSW 19 38940635 missense probably benign 0.08
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
R1897:Hells UTSW 19 38940484 missense probably benign
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
Posted On2015-04-16