Mutagenetix > Incidental Mutation

Incidental Mutation 'R0023:Hikeshi'

178047

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

038318-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89567893-89590446 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 89569412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075010] [ENSMUST00000078918] [ENSMUST00000117354] [ENSMUST00000130609] [ENSMUST00000153470] [ENSMUST00000207309]

AlphaFold

Q9DD02

Predicted Effect

probably benign
Transcript: ENSMUST00000075010

SMART Domains

Protein: ENSMUSP00000102856
Gene: ENSMUSG00000062797

Domain	Start	End	E-Value	Type
Pfam:DUF775	1	156	5.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078918

SMART Domains

Protein: ENSMUSP00000077951
Gene: ENSMUSG00000062797

Domain	Start	End	E-Value	Type
Pfam:DUF775	1	89	3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117354

SMART Domains

Protein: ENSMUSP00000112750
Gene: ENSMUSG00000062797

Domain	Start	End	E-Value	Type
Pfam:DUF775	2	96	9.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130609

Predicted Effect

probably benign
Transcript: ENSMUST00000150740

Predicted Effect

probably benign
Transcript: ENSMUST00000153470

SMART Domains

Protein: ENSMUSP00000119806
Gene: ENSMUSG00000062797

Domain	Start	End	E-Value	Type
Pfam:DUF775	1	195	2.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208357

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	C	4: 144,255,567 (GRCm39)	D329A	probably damaging	Het
Abcc12	T	A	8: 87,264,962 (GRCm39)	H661L	probably damaging	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Acsbg2	C	G	17: 57,154,710 (GRCm39)	A481P	probably damaging	Het
Aknad1	T	A	3: 108,688,501 (GRCm39)	C610S	probably benign	Het
Ang4	G	T	14: 52,001,860 (GRCm39)	Y29*	probably null	Het
Aqp11	A	T	7: 97,375,896 (GRCm39)	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,418,487 (GRCm39)	T1032K	unknown	Het
Atg16l1	T	C	1: 87,717,187 (GRCm39)	V538A	probably benign	Het
Bbs1	C	T	19: 4,956,042 (GRCm39)	A44T	probably damaging	Het
Bpifa3	A	C	2: 153,980,070 (GRCm39)	H234P	probably damaging	Het
Btbd9	A	T	17: 30,749,188 (GRCm39)	V42E	probably damaging	Het
Carmil3	C	G	14: 55,730,333 (GRCm39)	S15R	probably damaging	Het
Casp8ap2	A	G	4: 32,640,185 (GRCm39)	D413G	probably damaging	Het
Cfap44	T	A	16: 44,241,583 (GRCm39)	F651L	probably benign	Het
Clcn3	A	T	8: 61,386,104 (GRCm39)		probably benign	Het
Crip3	A	G	17: 46,741,920 (GRCm39)	K136E	probably damaging	Het
Ctr9	G	A	7: 110,643,154 (GRCm39)	A509T	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,726 (GRCm39)	S367P	probably damaging	Het
Dhrs11	A	T	11: 84,713,976 (GRCm39)	L125H	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Efcab7	A	T	4: 99,758,834 (GRCm39)		probably benign	Het
Eif2ak4	A	C	2: 118,293,202 (GRCm39)	S1253R	probably damaging	Het
Emc1	A	G	4: 139,098,320 (GRCm39)	D767G	probably damaging	Het
Fads1	G	A	19: 10,164,261 (GRCm39)		probably benign	Het
Fbxw26	T	C	9: 109,547,079 (GRCm39)	T449A	probably benign	Het
Frrs1	T	C	3: 116,690,437 (GRCm39)	F27L	probably damaging	Het
Fry	T	C	5: 150,374,563 (GRCm39)	S2358P	possibly damaging	Het
Gas6	A	C	8: 13,520,344 (GRCm39)	L448R	probably damaging	Het
Ifngr1	C	T	10: 19,485,197 (GRCm39)	R399*	probably null	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Knl1	C	T	2: 118,933,030 (GRCm39)	T2063I	possibly damaging	Het
Lyzl6	A	G	11: 103,527,697 (GRCm39)	V9A	probably benign	Het
Macf1	A	T	4: 123,382,107 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,816 (GRCm39)	V789A	possibly damaging	Het
Myo9b	A	T	8: 71,786,412 (GRCm39)	R693W	probably damaging	Het
Nasp	A	G	4: 116,462,968 (GRCm39)		probably benign	Het
Nr1i3	T	C	1: 171,044,900 (GRCm39)	F247L	probably damaging	Het
Plekhs1	T	G	19: 56,466,948 (GRCm39)	S260A	probably damaging	Het
Rpl21-ps6	T	C	17: 56,222,536 (GRCm39)		noncoding transcript	Het
Rtcb	A	T	10: 85,785,315 (GRCm39)		probably benign	Het
Sppl2a	T	A	2: 126,755,213 (GRCm39)		probably null	Het
Suco	A	T	1: 161,673,154 (GRCm39)		probably null	Het
Tnn	T	A	1: 159,932,498 (GRCm39)	T1075S	probably benign	Het
Traf3	T	A	12: 111,209,912 (GRCm39)	C169*	probably null	Het
Ucp3	G	T	7: 100,134,250 (GRCm39)	V288L	probably benign	Het
Ulk3	C	A	9: 57,497,639 (GRCm39)	C4*	probably null	Het
Vmn1r73	A	T	7: 11,490,997 (GRCm39)	T272S	probably benign	Het
Vmn2r115	G	A	17: 23,565,252 (GRCm39)	E380K	probably benign	Het
Vmn2r3	T	A	3: 64,182,787 (GRCm39)	N304I	probably damaging	Het
Xylt1	G	T	7: 117,233,928 (GRCm39)	G485V	probably damaging	Het
Yars1	A	G	4: 129,090,981 (GRCm39)	T130A	probably benign	Het
Zfp652	A	T	11: 95,644,295 (GRCm39)	R205*	probably null	Het

Other mutations in Hikeshi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCAGCACTGGGACAAAATGCAA -3'
(R):5'- GGGGCGTACATATACAGAGGTGAAAGG -3'

Sequencing Primer
(F):5'- ctgagtcatctcgacagcc -3'
(R):5'- GTtcaaagaaatctgcctgttgc -3'

Posted On

2014-05-07