Incidental Mutation 'IGL00162:Hikeshi'
ID 1466
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 # IGL00162
Quality Score
Status
Chromosome 7
Chromosomal Location 89567893-89590446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89584989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 72 (F72L)
Ref Sequence ENSEMBL: ENSMUSP00000147050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075010] [ENSMUST00000078918] [ENSMUST00000130609] [ENSMUST00000153470] [ENSMUST00000207309]
AlphaFold Q9DD02
Predicted Effect probably damaging
Transcript: ENSMUST00000075010
AA Change: F33L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102856
Gene: ENSMUSG00000062797
AA Change: F33L

DomainStartEndE-ValueType
Pfam:DUF775 1 156 5.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078918
AA Change: F72L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077951
Gene: ENSMUSG00000062797
AA Change: F72L

DomainStartEndE-ValueType
Pfam:DUF775 1 89 3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130609
Predicted Effect probably damaging
Transcript: ENSMUST00000153470
AA Change: F72L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119806
Gene: ENSMUSG00000062797
AA Change: F72L

DomainStartEndE-ValueType
Pfam:DUF775 1 195 2.3e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207309
AA Change: F72L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d1b T G 4: 108,484,575 (GRCm39) L470R probably damaging Het
Cd96 A T 16: 45,892,162 (GRCm39) N275K possibly damaging Het
Col22a1 A G 15: 71,732,807 (GRCm39) probably null Het
Cyb561 T C 11: 105,826,662 (GRCm39) H197R probably damaging Het
Dlgap1 T C 17: 70,823,080 (GRCm39) S22P probably benign Het
Dnajc6 A G 4: 101,365,286 (GRCm39) probably benign Het
Fgf6 A T 6: 127,001,048 (GRCm39) K185N possibly damaging Het
Fshr T C 17: 89,293,619 (GRCm39) N353S probably damaging Het
Gabbr1 T A 17: 37,359,335 (GRCm39) Y103* probably null Het
Gm7247 G A 14: 51,760,962 (GRCm39) C177Y possibly damaging Het
Ikzf4 T C 10: 128,470,416 (GRCm39) E368G probably benign Het
Kdm3b A G 18: 34,942,462 (GRCm39) E851G probably benign Het
Kif3b A G 2: 153,159,051 (GRCm39) D284G probably damaging Het
Kyat3 G A 3: 142,440,235 (GRCm39) A320T probably benign Het
Mok C T 12: 110,774,631 (GRCm39) probably benign Het
Mrgpra3 A G 7: 47,239,267 (GRCm39) F220L probably benign Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Or10ag58 A G 2: 87,265,407 (GRCm39) H192R probably benign Het
Or2ag19 A G 7: 106,444,574 (GRCm39) Y252C possibly damaging Het
Pikfyve T A 1: 65,299,280 (GRCm39) probably null Het
Plekhn1 T G 4: 156,307,820 (GRCm39) T369P probably damaging Het
Ptpn12 T C 5: 21,234,848 (GRCm39) E45G probably damaging Het
Ralgps1 A T 2: 33,027,694 (GRCm39) *516R probably null Het
Rps23rg1 A G 8: 3,633,904 (GRCm39) T2A probably benign Het
Senp6 A G 9: 80,023,892 (GRCm39) D385G probably damaging Het
Siglech T C 7: 55,422,339 (GRCm39) probably benign Het
Slit1 A G 19: 41,639,274 (GRCm39) L212P probably damaging Het
Smchd1 T A 17: 71,772,668 (GRCm39) probably benign Het
Snapc4 A T 2: 26,259,324 (GRCm39) C609S probably benign Het
Strn3 T C 12: 51,707,979 (GRCm39) T139A possibly damaging Het
Tcaf3 T C 6: 42,570,319 (GRCm39) T478A probably benign Het
Tlr3 A G 8: 45,853,727 (GRCm39) S198P probably damaging Het
Ttn C T 2: 76,720,823 (GRCm39) probably benign Het
Vil1 G A 1: 74,463,034 (GRCm39) E406K probably damaging Het
Zfp462 A G 4: 55,011,483 (GRCm39) probably null Het
Zfyve9 A G 4: 108,499,304 (GRCm39) V1338A possibly damaging Het
Other mutations in Hikeshi
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02749:Hikeshi APN 7 89,585,097 (GRCm39) missense possibly damaging 0.47
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 2011-07-12