Incidental Mutation 'IGL02416:Hells'
ID292467
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 #IGL02416
Quality Score
Status
Chromosome19
Chromosomal Location38930915-38971051 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 38964627 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 743 (S743N)
Ref Sequence ENSEMBL: ENSMUSP00000025965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025965]
Predicted Effect probably benign
Transcript: ENSMUST00000025965
AA Change: S743N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: S743N

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
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
Adamdec1 T C 14: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Bicdl1 A C 5: 115,663,885 L38R probably damaging Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dock11 T A X: 36,020,086 V1119E probably damaging Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Foxj1 T C 11: 116,332,003 S325G probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mef2d C T 3: 88,156,502 R79C probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Mmgt2 T C 11: 62,664,877 L17P probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pigb A G 9: 73,017,432 S482P probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rabgap1 T C 2: 37,561,950 I954T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging Het
Other mutations in Hells
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Z1176:Hells UTSW 19 38965407 missense possibly damaging 0.92
Posted On2015-04-16