Incidental Mutation 'IGL00502:Hikeshi'
ID 5212
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 # IGL00502
Quality Score
Status
Chromosome 7
Chromosomal Location 89567893-89590446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89572818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 26 (T26I)
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: T86I

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102856
Gene: ENSMUSG00000062797
AA Change: T86I

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 probably benign
Transcript: ENSMUST00000117354
AA Change: T26I

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112750
Gene: ENSMUSG00000062797
AA Change: T26I

DomainStartEndE-ValueType
Pfam:DUF775 2 96 9.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130609
Predicted Effect unknown
Transcript: ENSMUST00000150740
AA Change: T35I
Predicted Effect probably benign
Transcript: ENSMUST00000153470
AA Change: T125I

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119806
Gene: ENSMUSG00000062797
AA Change: T125I

DomainStartEndE-ValueType
Pfam:DUF775 1 195 2.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207309
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
Adamts20 A T 15: 94,301,278 (GRCm39) I82N probably damaging Het
Ampd2 A T 3: 107,984,712 (GRCm39) L422H probably damaging Het
Angptl2 T A 2: 33,118,406 (GRCm39) V60E probably damaging Het
Ano3 G A 2: 110,601,395 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,373,078 (GRCm39) D112G probably benign Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Btrc A T 19: 45,515,704 (GRCm39) E553V probably damaging Het
Cacna1b A T 2: 24,541,212 (GRCm39) Y1323* probably null Het
Ccdc146 A G 5: 21,506,420 (GRCm39) C674R possibly damaging Het
Ccdc170 A G 10: 4,496,836 (GRCm39) D458G probably damaging Het
Cfap57 T A 4: 118,438,198 (GRCm39) M898L probably benign Het
Crybg1 C T 10: 43,834,309 (GRCm39) V1961I probably damaging Het
Dsp T C 13: 38,381,822 (GRCm39) S2257P probably damaging Het
Dytn A G 1: 63,717,999 (GRCm39) V12A probably benign Het
Foxk2 A G 11: 121,187,925 (GRCm39) probably benign Het
Galnt2l T C 8: 125,054,837 (GRCm39) M204T probably damaging Het
Gfi1b G A 2: 28,504,797 (GRCm39) Q70* probably null Het
Gsdmc T C 15: 63,676,270 (GRCm39) T58A probably benign Het
Mpdz T C 4: 81,287,960 (GRCm39) D433G probably damaging Het
Ndufb5 T A 3: 32,799,048 (GRCm39) V55D probably damaging Het
Nostrin T C 2: 69,014,336 (GRCm39) S431P probably benign Het
Pdcd1lg2 A T 19: 29,423,462 (GRCm39) T169S possibly damaging Het
Plekha7 A T 7: 115,734,419 (GRCm39) M1006K probably damaging Het
Rgs6 A T 12: 83,098,097 (GRCm39) I94F probably benign Het
Rims2 A T 15: 39,370,380 (GRCm39) D938V probably damaging Het
Slc4a8 A G 15: 100,705,319 (GRCm39) T842A possibly damaging Het
Spata21 C A 4: 140,838,675 (GRCm39) probably null Het
Stk32a C T 18: 43,443,510 (GRCm39) T229I possibly damaging Het
Tent4b C T 8: 88,978,886 (GRCm39) Q63* probably null Het
Trim33 C T 3: 103,237,498 (GRCm39) P185S probably benign Het
Tspoap1 A G 11: 87,668,647 (GRCm39) probably null Het
Vcan A G 13: 89,840,438 (GRCm39) V742A probably benign Het
Vrtn A T 12: 84,695,837 (GRCm39) I196F probably benign Het
Wasf1 A T 10: 40,796,293 (GRCm39) I8F probably damaging Het
Ythdc2 A G 18: 44,980,879 (GRCm39) I491M probably damaging Het
Zfp292 T C 4: 34,809,775 (GRCm39) T1095A possibly damaging Het
Other mutations in Hikeshi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Hikeshi APN 7 89,584,989 (GRCm39) missense probably damaging 0.99
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 2012-04-20