Incidental Mutation 'IGL02749:Hikeshi'
ID306202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hikeshi
Ensembl Gene ENSMUSG00000062797
Gene Nameheat shock protein nuclear import factor
Synonyms0610007P06Rik, Hikeshi, l(7)6Rn, 1110002N09Rik, l7Rn6
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02749
Quality Score
Status
Chromosome7
Chromosomal Location89917529-89941204 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89935889 bp
ZygosityHeterozygous
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]
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
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Hikeshi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Hikeshi APN 7 89935781 missense probably damaging 0.99
IGL00502:Hikeshi APN 7 89923610 missense probably benign 0.34
IGL02296:Hikeshi APN 7 89935922 missense probably damaging 1.00
IGL03110:Hikeshi APN 7 89935826 missense probably damaging 1.00
R0023:Hikeshi UTSW 7 89920204 splice site probably benign
R0591:Hikeshi UTSW 7 89920087 missense possibly damaging 0.74
R1119:Hikeshi UTSW 7 89935730 missense probably benign 0.04
R4646:Hikeshi UTSW 7 89923646 missense probably damaging 1.00
R6799:Hikeshi UTSW 7 89930345 intron probably benign
R7694:Hikeshi UTSW 7 89930346 nonsense probably null
R7698:Hikeshi UTSW 7 89923681 missense probably benign 0.05
Posted On2015-04-16