Incidental Mutation 'IGL03110:Hikeshi'
ID 419148
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 # IGL03110
Quality Score
Status
Chromosome 7
Chromosomal Location 89567893-89590446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89585034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 57 (S57P)
Ref Sequence ENSEMBL: ENSMUSP00000147050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075010] [ENSMUST00000078918] [ENSMUST00000130609] [ENSMUST00000153470] [ENSMUST00000207309]
AlphaFold Q9DD02
Predicted Effect possibly damaging
Transcript: ENSMUST00000075010
AA Change: S18P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102856
Gene: ENSMUSG00000062797
AA Change: S18P

DomainStartEndE-ValueType
Pfam:DUF775 1 156 5.4e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000078918
AA Change: S57P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077951
Gene: ENSMUSG00000062797
AA Change: S57P

DomainStartEndE-ValueType
Pfam:DUF775 1 89 3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130609
Predicted Effect possibly damaging
Transcript: ENSMUST00000153470
AA Change: S57P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119806
Gene: ENSMUSG00000062797
AA Change: S57P

DomainStartEndE-ValueType
Pfam:DUF775 1 195 2.3e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207309
AA Change: S57P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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
Acacb A G 5: 114,333,295 (GRCm39) E473G probably damaging Het
Acp7 T C 7: 28,310,464 (GRCm39) M458V probably benign Het
Acrbp G T 6: 125,039,436 (GRCm39) C485F probably damaging Het
Actn2 T C 13: 12,324,493 (GRCm39) I117V probably benign Het
Ahr T C 12: 35,554,970 (GRCm39) E383G probably damaging Het
Cacna2d4 A T 6: 119,213,698 (GRCm39) H39L probably benign Het
Cdh11 G T 8: 103,400,502 (GRCm39) N155K probably damaging Het
Cldnd1 T A 16: 58,549,959 (GRCm39) N47K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dido1 A T 2: 180,331,135 (GRCm39) D104E probably damaging Het
Dnah1 A T 14: 30,988,674 (GRCm39) S3386T probably benign Het
Galnt18 T A 7: 111,147,920 (GRCm39) E352V probably benign Het
Gm5407 T A 16: 49,117,757 (GRCm39) noncoding transcript Het
Gucy1b2 T C 14: 62,671,283 (GRCm39) probably benign Het
Guf1 C A 5: 69,715,820 (GRCm39) L87I probably damaging Het
Igkv17-121 T A 6: 68,013,851 (GRCm39) V17D probably damaging Het
Itgad T C 7: 127,785,157 (GRCm39) V324A probably damaging Het
Lama1 T A 17: 68,105,981 (GRCm39) L2072Q probably benign Het
Lrrc31 T C 3: 30,733,415 (GRCm39) E433G probably benign Het
Mrc1 T A 2: 14,298,289 (GRCm39) L715* probably null Het
Nbeal2 T G 9: 110,460,501 (GRCm39) K1778Q probably damaging Het
Or4c35 A T 2: 89,808,493 (GRCm39) I124F probably damaging Het
Or51a39 C A 7: 102,363,090 (GRCm39) G177C probably damaging Het
Or5m3 T A 2: 85,838,942 (GRCm39) V274E probably damaging Het
Ppp1r3a T A 6: 14,722,064 (GRCm39) probably benign Het
Prss37 T C 6: 40,495,984 (GRCm39) Y6C probably benign Het
Rapgef6 A G 11: 54,586,915 (GRCm39) Q1602R probably damaging Het
Rbm15b T C 9: 106,763,173 (GRCm39) T332A probably damaging Het
S100a7l2 C T 3: 90,995,626 (GRCm39) R92H unknown Het
Snrnp70 C A 7: 45,026,283 (GRCm39) probably benign Het
Spidr T C 16: 15,707,618 (GRCm39) E893G probably damaging Het
Stxbp2 T C 8: 3,683,342 (GRCm39) I74T probably damaging Het
Tgm2 G A 2: 157,973,410 (GRCm39) Q234* probably null Het
Thbd T C 2: 148,248,716 (GRCm39) D384G probably benign Het
Zan T C 5: 137,418,278 (GRCm39) N2940S unknown Het
Zmat3 T A 3: 32,399,701 (GRCm39) N100I probably damaging 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
IGL02749:Hikeshi APN 7 89,585,097 (GRCm39) missense possibly damaging 0.47
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 2016-08-02