Incidental Mutation 'IGL02749:Hikeshi'
ID 306202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hikeshi
Ensembl Gene ENSMUSG00000062797
Gene Name heat shock protein nuclear import factor
Synonyms l(7)6Rn, 1110002N09Rik, 0610007P06Rik, l7Rn6, Hikeshi
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02749
Quality Score
Status
Chromosome 7
Chromosomal Location 89567893-89590446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89585097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 36 (V36I)
Ref Sequence ENSEMBL: ENSMUSP00000147050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075010] [ENSMUST00000078918] [ENSMUST00000130609] [ENSMUST00000153470] [ENSMUST00000207309]
AlphaFold Q9DD02
Predicted Effect probably benign
Transcript: ENSMUST00000075010
SMART Domains Protein: ENSMUSP00000102856
Gene: ENSMUSG00000062797

DomainStartEndE-ValueType
Pfam:DUF775 1 156 5.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078918
AA Change: V36I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077951
Gene: ENSMUSG00000062797
AA Change: V36I

DomainStartEndE-ValueType
Pfam:DUF775 1 89 3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130609
Predicted Effect probably benign
Transcript: ENSMUST00000153470
AA Change: V36I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119806
Gene: ENSMUSG00000062797
AA Change: V36I

DomainStartEndE-ValueType
Pfam:DUF775 1 195 2.3e-59 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207309
AA Change: V36I

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208357
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 an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation die prenatally or neonatally, and exhibit cyanoisis with a significant emphysematous phenotype at birth. The secretory apparatus in Clara cells is also affected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104M06Rik T C 12: 112,963,795 (GRCm39) D61G probably benign Het
Albfm1 T C 5: 90,719,624 (GRCm39) V240A possibly damaging Het
Ascc2 G A 11: 4,590,481 (GRCm39) probably null Het
Atrn C T 2: 130,812,064 (GRCm39) Q670* probably null Het
Atrn G T 2: 130,789,654 (GRCm39) probably benign Het
Calr A C 8: 85,571,117 (GRCm39) W236G probably damaging Het
Camk2g T A 14: 20,816,084 (GRCm39) probably null Het
Cd101 G T 3: 100,927,715 (GRCm39) T122K probably damaging Het
Cert1 T A 13: 96,765,643 (GRCm39) N469K possibly damaging Het
Cryl1 T C 14: 57,541,181 (GRCm39) T168A probably benign Het
Diaph3 A G 14: 87,156,261 (GRCm39) I684T probably damaging Het
Ednrb A T 14: 104,060,495 (GRCm39) M266K possibly damaging Het
Eif4h T C 5: 134,668,146 (GRCm39) D3G probably damaging Het
Eny2 C T 15: 44,293,031 (GRCm39) R28C possibly damaging Het
Epsti1 A G 14: 78,177,363 (GRCm39) E181G probably damaging Het
Ezh2 A G 6: 47,510,698 (GRCm39) F598S probably damaging Het
Fat3 G T 9: 15,918,007 (GRCm39) T1472K possibly damaging Het
Gabra4 T A 5: 71,795,490 (GRCm39) I262F probably benign Het
Gpat4 A T 8: 23,670,886 (GRCm39) Y109N probably damaging Het
Gpsm1 C T 2: 26,229,687 (GRCm39) T36I probably damaging Het
Hip1 T C 5: 135,473,605 (GRCm39) M238V probably benign Het
Hnrnpll A T 17: 80,369,420 (GRCm39) M1K probably null Het
Irx2 G A 13: 72,779,429 (GRCm39) D238N probably damaging Het
Kcnip4 T A 5: 48,567,127 (GRCm39) probably benign Het
Lair1 G A 7: 4,031,900 (GRCm39) T69I possibly damaging Het
Lamc1 A G 1: 153,125,599 (GRCm39) I558T possibly damaging Het
Map4k5 C T 12: 69,862,580 (GRCm39) E639K probably benign Het
Mc4r A G 18: 66,992,733 (GRCm39) S127P probably damaging Het
Mmp23 A G 4: 155,735,989 (GRCm39) M221T possibly damaging Het
Mre11a T C 9: 14,737,887 (GRCm39) S587P possibly damaging Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Nek9 C A 12: 85,352,281 (GRCm39) A861S probably benign Het
Nup155 T A 15: 8,163,560 (GRCm39) Y576N probably damaging Het
Or5w10 C T 2: 87,375,001 (GRCm39) V296M probably damaging Het
Pcca A T 14: 122,771,800 (GRCm39) T8S probably benign Het
Pcdh15 A G 10: 74,466,900 (GRCm39) D1573G probably benign Het
Pdpr T A 8: 111,844,722 (GRCm39) V373E probably benign Het
Pdzph1 A T 17: 59,239,478 (GRCm39) L950Q possibly damaging Het
Pira13 A G 7: 3,825,624 (GRCm39) I415T probably damaging Het
Prss35 A C 9: 86,638,297 (GRCm39) K356Q probably damaging Het
Psg22 A T 7: 18,456,944 (GRCm39) T237S possibly damaging Het
Rdh13 A G 7: 4,430,703 (GRCm39) Y252H probably damaging Het
Sema3d T C 5: 12,613,112 (GRCm39) probably benign Het
Slc35b2 G A 17: 45,877,493 (GRCm39) V207I probably benign Het
Sparcl1 T G 5: 104,240,746 (GRCm39) E226A possibly damaging Het
Srms C A 2: 180,851,302 (GRCm39) A155S possibly damaging Het
Tas2r107 A T 6: 131,636,917 (GRCm39) I44N probably damaging Het
Tmem236 C T 2: 14,224,132 (GRCm39) T307M probably damaging Het
Ush2a C T 1: 188,679,155 (GRCm39) P4788S probably damaging Het
Vmn1r170 A T 7: 23,305,716 (GRCm39) L39F probably benign Het
Vmn2r90 T A 17: 17,947,122 (GRCm39) *121R probably null Het
Other mutations in Hikeshi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Hikeshi APN 7 89,584,989 (GRCm39) missense probably damaging 0.99
IGL00502:Hikeshi APN 7 89,572,818 (GRCm39) missense probably benign 0.34
IGL02296:Hikeshi APN 7 89,585,130 (GRCm39) missense probably damaging 1.00
IGL03110:Hikeshi APN 7 89,585,034 (GRCm39) missense probably damaging 1.00
R0023:Hikeshi UTSW 7 89,569,412 (GRCm39) splice site probably benign
R0591:Hikeshi UTSW 7 89,569,295 (GRCm39) missense possibly damaging 0.74
R1119:Hikeshi UTSW 7 89,584,938 (GRCm39) missense probably benign 0.04
R4646:Hikeshi UTSW 7 89,572,854 (GRCm39) missense probably damaging 1.00
R6799:Hikeshi UTSW 7 89,579,553 (GRCm39) intron probably benign
R7694:Hikeshi UTSW 7 89,579,554 (GRCm39) nonsense probably null
R7698:Hikeshi UTSW 7 89,572,889 (GRCm39) missense probably benign 0.05
R9260:Hikeshi UTSW 7 89,579,776 (GRCm39) intron probably benign
R9294:Hikeshi UTSW 7 89,584,968 (GRCm39) missense probably damaging 1.00
R9730:Hikeshi UTSW 7 89,569,371 (GRCm39) missense probably benign 0.13
Posted On 2015-04-16