Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02604:Hspa9'

300192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspa9

Ensembl Gene

ENSMUSG00000024359

Gene Name

heat shock protein 9

Synonyms

C3H-specific antigen, mthsp70, GRP75, PBP74, CSA, Hsc74, mot-2, Hsp74a, Hspa9a, Hsp74, mortalin

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

34937414-34954357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34954213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 13 (V13A)

Ref Sequence

ENSEMBL: ENSMUSP00000025217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025217]

AlphaFold

P38647

Predicted Effect

unknown
Transcript: ENSMUST00000025217
AA Change: V13A

SMART Domains

Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: V13A

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Pfam:HSP70	55	653	2.7e-270	PFAM
Pfam:FGGY_C	283	429	3e-8	PFAM
low complexity region	657	679	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173806

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 a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality while heterozygotes display decreased pre-B cell number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,948	V61A	probably benign	Het
Arfgef1	G	A	1: 10,181,050		probably benign	Het
Arhgef4	T	A	1: 34,811,723	L594*	probably null	Het
Cacna2d3	T	C	14: 29,293,109	T375A	possibly damaging	Het
Calb2	A	C	8: 110,148,528	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,096,625	T92A	possibly damaging	Het
Chsy3	A	G	18: 59,409,115	S442G	probably benign	Het
Cyp4f13	T	C	17: 32,932,421	I173V	probably benign	Het
Dapk1	A	G	13: 60,748,320	T741A	probably benign	Het
Dennd3	T	C	15: 73,556,403	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,237,321	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,744,328		probably benign	Het
Fsbp	A	G	4: 11,584,147	E282G	probably damaging	Het
Hpgds	A	T	6: 65,123,610	L128Q	probably damaging	Het
Itgb3	A	G	11: 104,662,443	E709G	probably damaging	Het
Jarid2	T	C	13: 44,874,401	S148P	probably damaging	Het
Kcna6	C	T	6: 126,739,204	G241R	probably benign	Het
Kdm5a	T	A	6: 120,431,980	N1541K	probably benign	Het
Kel	C	A	6: 41,687,582	E640D	probably damaging	Het
Lcp1	A	T	14: 75,224,126	I520F	probably benign	Het
Lgr4	A	G	2: 110,011,313	I524V	probably damaging	Het
Maats1	A	G	16: 38,321,559		probably benign	Het
Mup20	A	C	4: 62,051,904	Y139D	probably damaging	Het
Notch4	T	C	17: 34,565,388		probably null	Het
Obox7	A	G	7: 14,665,368	E173G	probably benign	Het
Olfr1502	T	A	19: 13,861,806	N4K	probably benign	Het
Olfr153	A	T	2: 87,532,605	T191S	probably damaging	Het
Olfr447	T	A	6: 42,912,058	C178*	probably null	Het
Olfr517	T	A	7: 108,868,650	Y168F	probably benign	Het
Olfr889	C	T	9: 38,115,852	Q19*	probably null	Het
Patl2	T	G	2: 122,125,333	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Plekhg6	T	C	6: 125,377,379		probably benign	Het
Pon1	C	A	6: 5,168,375	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,572,743	K529N	probably benign	Het
Prdm15	A	G	16: 97,821,942	S203P	probably benign	Het
Psmc2	T	A	5: 21,795,100		probably null	Het
Ptn	T	C	6: 36,715,718	M166V	unknown	Het
Ptpn13	A	G	5: 103,501,903	N391D	probably benign	Het
Rnf214	A	G	9: 45,869,543	S383P	probably damaging	Het
Rufy4	T	A	1: 74,134,189	L438H	probably damaging	Het
Scarf2	A	G	16: 17,803,744	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,257,759	I225L	probably benign	Het
Slc25a40	T	C	5: 8,453,219	V312A	probably benign	Het
Tmc3	A	G	7: 83,622,619	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,113,076	C529G	probably damaging	Het
Trim8	T	C	19: 46,515,478	S490P	probably damaging	Het
Trmt6	A	T	2: 132,810,437	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,540,701	H798L	probably damaging	Het
Vps35	A	G	8: 85,286,389	L153P	probably damaging	Het
Wdr82	T	C	9: 106,183,681	I131T	probably damaging	Het
Zfp69	A	T	4: 120,931,463	D218E	probably benign	Het

Other mutations in Hspa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Hspa9	APN	18	34938580	splice site	probably benign
IGL01939:Hspa9	APN	18	34938708	missense	possibly damaging	0.89
IGL02008:Hspa9	APN	18	34947975	nonsense	probably null
Chiri-san	UTSW	18	34939423	missense	probably damaging	1.00
R0238:Hspa9	UTSW	18	34946646	nonsense	probably null
R0238:Hspa9	UTSW	18	34946646	nonsense	probably null
R0278:Hspa9	UTSW	18	34940910	missense	possibly damaging	0.50
R0613:Hspa9	UTSW	18	34947980	missense	probably damaging	1.00
R1414:Hspa9	UTSW	18	34938591	missense	probably damaging	1.00
R1454:Hspa9	UTSW	18	34938606	missense	probably damaging	1.00
R2013:Hspa9	UTSW	18	34946648	missense	probably damaging	1.00
R2014:Hspa9	UTSW	18	34946648	missense	probably damaging	1.00
R2015:Hspa9	UTSW	18	34946648	missense	probably damaging	1.00
R2936:Hspa9	UTSW	18	34948014	missense	probably damaging	1.00
R4261:Hspa9	UTSW	18	34939423	missense	probably damaging	1.00
R4622:Hspa9	UTSW	18	34949037	missense	possibly damaging	0.48
R4819:Hspa9	UTSW	18	34939388	missense	probably damaging	0.98
R5056:Hspa9	UTSW	18	34938681	missense	probably damaging	1.00
R5223:Hspa9	UTSW	18	34952671	splice site	probably null
R5666:Hspa9	UTSW	18	34954247	missense	probably null
R5820:Hspa9	UTSW	18	34943174	missense	possibly damaging	0.82
R5944:Hspa9	UTSW	18	34949023	missense	possibly damaging	0.94
R6460:Hspa9	UTSW	18	34952712	missense	probably benign
R7404:Hspa9	UTSW	18	34943276	missense	possibly damaging	0.76
R7412:Hspa9	UTSW	18	34949029	missense	probably damaging	1.00
R7637:Hspa9	UTSW	18	34938687	missense	not run
R8524:Hspa9	UTSW	18	34954244	missense	unknown
R8830:Hspa9	UTSW	18	34948104	critical splice donor site	probably null
R8987:Hspa9	UTSW	18	34947929	missense	probably damaging	1.00
R9028:Hspa9	UTSW	18	34942031	missense	probably damaging	1.00
R9184:Hspa9	UTSW	18	34949115	missense	possibly damaging	0.87
Z1177:Hspa9	UTSW	18	34943145	missense	possibly damaging	0.96

Posted On

2015-04-16