Incidental Mutation 'R0591:Hikeshi'
ID 55979
Institutional Source Beutler Lab
Gene Symbol Hikeshi
Ensembl Gene ENSMUSG00000062797
Gene Name heat shock protein nuclear import factor
Synonyms l(7)6Rn, 1110002N09Rik, 0610007P06Rik, l7Rn6, Hikeshi
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0591 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 89567893-89590446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89569295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 76 (N76K)
Ref Sequence ENSEMBL: ENSMUSP00000112750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075010] [ENSMUST00000078918] [ENSMUST00000117354] [ENSMUST00000130609] [ENSMUST00000153470] [ENSMUST00000207309]
AlphaFold Q9DD02
Predicted Effect probably benign
Transcript: ENSMUST00000075010
AA Change: N136K

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102856
Gene: ENSMUSG00000062797
AA Change: N136K

DomainStartEndE-ValueType
Pfam:DUF775 1 156 5.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078918
SMART Domains Protein: ENSMUSP00000077951
Gene: ENSMUSG00000062797

DomainStartEndE-ValueType
Pfam:DUF775 1 89 3e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117354
AA Change: N76K

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112750
Gene: ENSMUSG00000062797
AA Change: N76K

DomainStartEndE-ValueType
Pfam:DUF775 2 96 9.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130609
Predicted Effect unknown
Transcript: ENSMUST00000150740
AA Change: N85K
Predicted Effect probably benign
Transcript: ENSMUST00000153470
AA Change: N175K

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119806
Gene: ENSMUSG00000062797
AA Change: N175K

DomainStartEndE-ValueType
Pfam:DUF775 1 195 2.3e-59 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000207309
AA Change: C125S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208357
Meta Mutation Damage Score 0.1062 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTGCGAACCACGAGATGCC -3'
(R):5'- cacctgcctGTCTTAGAACGTATATTCC -3'

Sequencing Primer
(F):5'- gagccagaagaggacatcag -3'
(R):5'- GTTCACACAGAAGATGTTGGACAA -3'
Posted On 2013-07-11