Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02008:Hspa9'

183237

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: 0.967) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

34937414-34954357 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 34947975 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 218 (R218*)

Ref Sequence

ENSEMBL: ENSMUSP00000025217 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000025217
AA Change: R218*

SMART Domains

Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: R218*

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,176,101	T2252A	probably benign	Het
Abcc2	C	T	19: 43,821,750		probably benign	Het
Abcf1	T	C	17: 35,962,062	E231G	probably benign	Het
Astn2	T	C	4: 66,059,153	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,538,695		probably benign	Het
Atr	T	A	9: 95,881,420		probably benign	Het
Bdp1	A	G	13: 100,023,827	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,560,966	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,715,924	S218G	probably null	Het
Cand2	T	C	6: 115,803,638	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,580,960	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,603,091	V161D	probably damaging	Het
Ctsh	A	G	9: 90,061,547	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,688,923	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,688,924	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,091,099	W212*	probably null	Het
Dnah5	T	A	15: 28,343,552	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,612,920	M794T	probably damaging	Het
F11	G	T	8: 45,250,095	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,532,823	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705	I347V	probably benign	Het
Fip1l1	C	T	5: 74,545,423	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,546,450	D598A	probably benign	Het
Gm1110	T	A	9: 26,883,230	D500V	probably benign	Het
Gm1840	A	T	8: 5,639,896		noncoding transcript	Het
Gm3248	T	A	14: 5,943,928	M99L	probably benign	Het
Gm906	G	A	13: 50,246,685	P535L	probably benign	Het
Ikbip	G	A	10: 91,093,257		probably null	Het
Kcnb2	C	T	1: 15,710,809	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,978,279	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,570,957	T442A	probably benign	Het
Mgat1	T	A	11: 49,260,735	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,385,151	S334R	probably benign	Het
Notch2	A	T	3: 98,147,296	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,213,263	V520M	probably damaging	Het
Olfr1089	A	C	2: 86,733,177	I145R	possibly damaging	Het
Olfr1167	A	T	2: 88,149,578	V147E	probably damaging	Het
Olfr1179	T	A	2: 88,402,077	T286S	possibly damaging	Het
Olfr149	A	G	9: 39,702,253	V172A	probably damaging	Het
Olfr803	T	A	10: 129,692,018	T8S	probably benign	Het
Olfr972	A	T	9: 39,873,485	D70V	probably damaging	Het
Osr2	A	G	15: 35,301,992	H246R	probably damaging	Het
Papolg	T	C	11: 23,879,898	R224G	probably damaging	Het
Pax6	T	A	2: 105,692,278		probably null	Het
Pcyox1	A	G	6: 86,392,268	V192A	probably benign	Het
Phf1	C	T	17: 26,935,286	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,332,391	R45W	probably damaging	Het
Psmb9	T	A	17: 34,183,679	K109M	probably damaging	Het
Ptprt	T	A	2: 161,927,673	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,689,766	I70V	probably benign	Het
Rnf213	G	A	11: 119,418,309		probably benign	Het
Rom1	T	A	19: 8,928,004	I271F	probably benign	Het
Satb2	T	A	1: 56,796,793	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,448,129	G159V	possibly damaging	Het
Slit1	T	C	19: 41,646,140	I393V	probably damaging	Het
Spata20	T	A	11: 94,483,463	D327V	probably damaging	Het
Tbc1d32	G	T	10: 56,151,775	Q744K	possibly damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tmem108	G	T	9: 103,489,240	N517K	possibly damaging	Het
Trp63	T	A	16: 25,862,461	N160K	probably damaging	Het
Ttll5	T	C	12: 85,933,611	S119P	probably damaging	Het
Ubqln3	T	A	7: 104,142,316	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,737,776	R638H	probably benign	Het
Wdr3	A	G	3: 100,150,982	S436P	probably damaging	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfp976	A	T	7: 42,614,232		probably benign	Het
Zmiz1	A	G	14: 25,656,879	M860V	probably damaging	Het
Zscan4d	T	C	7: 11,162,369	E358G	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
IGL02604:Hspa9	APN	18	34954213	missense	unknown
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
Z1177:Hspa9	UTSW	18	34943145	missense	possibly damaging	0.96

Posted On

2014-05-07