Mutagenetix > Incidental Mutation

Incidental Mutation 'R1119:Hikeshi'

97734

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

039192-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89567893-89590446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89584938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 89 (S89P)

Ref Sequence

ENSEMBL: ENSMUSP00000147050 (fasta)

Gene Model

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

AlphaFold

Q9DD02

Predicted Effect

probably benign
Transcript: ENSMUST00000075010
AA Change: S50P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102856
Gene: ENSMUSG00000062797
AA Change: S50P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000078918
AA Change: S89P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077951
Gene: ENSMUSG00000062797
AA Change: S89P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130609

Predicted Effect

probably benign
Transcript: ENSMUST00000153470
AA Change: S89P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119806
Gene: ENSMUSG00000062797
AA Change: S89P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207309
AA Change: S89P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208357

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

100% (51/51)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	C	7: 82,189,525 (GRCm39)	E583A	probably damaging	Het
Aoah	T	A	13: 21,099,108 (GRCm39)		probably benign	Het
Atf7ip2	A	G	16: 10,058,476 (GRCm39)	K305R	possibly damaging	Het
Bltp1	T	G	3: 37,041,194 (GRCm39)	V2524G	probably damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Cfap57	G	A	4: 118,463,873 (GRCm39)	Q327*	probably null	Het
Ckap2l	A	T	2: 129,114,492 (GRCm39)		probably benign	Het
Cul2	A	G	18: 3,419,335 (GRCm39)		probably benign	Het
Ddx60	G	A	8: 62,395,578 (GRCm39)	V172M	probably damaging	Het
Drp2	T	C	X: 133,342,071 (GRCm39)	L545P	probably damaging	Het
Ezh1	A	G	11: 101,101,361 (GRCm39)		probably benign	Het
Gipc2	A	G	3: 151,799,833 (GRCm39)	F299S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Larp1b	C	A	3: 40,987,963 (GRCm39)	R62S	possibly damaging	Het
Lgr5	A	T	10: 115,296,716 (GRCm39)		probably null	Het
Lpin1	C	A	12: 16,613,722 (GRCm39)	D449Y	probably damaging	Het
Macrod2	A	T	2: 140,242,826 (GRCm39)	I31L	probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nxpe5	G	A	5: 138,237,658 (GRCm39)	D61N	probably benign	Het
Ogdh	T	A	11: 6,290,544 (GRCm39)	H376Q	probably damaging	Het
P4ha3	T	C	7: 99,962,535 (GRCm39)	I431T	probably damaging	Het
Pcdhb14	G	A	18: 37,581,640 (GRCm39)	V249M	probably damaging	Het
Pcnp	A	G	16: 55,844,754 (GRCm39)	S49P	probably damaging	Het
Pik3r6	C	T	11: 68,436,698 (GRCm39)	T654I	probably benign	Het
Rptn	A	G	3: 93,303,552 (GRCm39)	Y295C	possibly damaging	Het
Sec16b	A	G	1: 157,392,404 (GRCm39)	D924G	possibly damaging	Het
Setd1b	C	A	5: 123,285,779 (GRCm39)	T275K	unknown	Het
Sgcb	T	A	5: 73,801,757 (GRCm39)	K36I	probably damaging	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stab2	T	C	10: 86,695,619 (GRCm39)	D599G	possibly damaging	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tax1bp1	C	A	6: 52,718,933 (GRCm39)		probably benign	Het
Thnsl1	A	G	2: 21,217,857 (GRCm39)	N16S	probably damaging	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Tpp2	T	C	1: 44,031,556 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Vmn2r60	A	T	7: 41,844,365 (GRCm39)	Q576L	possibly damaging	Het
Zfp62	G	T	11: 49,107,517 (GRCm39)	R536L	probably damaging	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	possibly damaging	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
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
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'- CGTGCCCAAGCAGCTTTTACTTAC -3'
(R):5'- CATACTGGGGACAGTTTGTGGCAG -3'

Sequencing Primer
(F):5'- ACTTACACTTCTCAAATGCTACTG -3'
(R):5'- GGCAGTACTAAAGGTTTCAGTAACTC -3'

Posted On

2014-01-05