Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.971) 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 (GRCm38)

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]

AlphaFold

P38647

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 (GRCm38)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,821,750 (GRCm38)		probably benign	Het
Abcf1	T	C	17: 35,962,062 (GRCm38)	E231G	probably benign	Het
Astn2	T	C	4: 66,059,153 (GRCm38)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,538,695 (GRCm38)		probably benign	Het
Atr	T	A	9: 95,881,420 (GRCm38)		probably benign	Het
Bdp1	A	G	13: 100,023,827 (GRCm38)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,560,966 (GRCm38)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,715,924 (GRCm38)	S218G	probably null	Het
Cand2	T	C	6: 115,803,638 (GRCm38)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,580,960 (GRCm38)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,603,091 (GRCm38)	V161D	probably damaging	Het
Ctsh	A	G	9: 90,061,547 (GRCm38)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,688,923 (GRCm38)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,688,924 (GRCm38)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,091,099 (GRCm38)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,552 (GRCm38)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,612,920 (GRCm38)	M794T	probably damaging	Het
F11	G	T	8: 45,250,095 (GRCm38)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,532,823 (GRCm38)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Fip1l1	C	T	5: 74,545,423 (GRCm38)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,546,450 (GRCm38)	D598A	probably benign	Het
Gm1110	T	A	9: 26,883,230 (GRCm38)	D500V	probably benign	Het
Gm1840	A	T	8: 5,639,896 (GRCm38)		noncoding transcript	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gm906	G	A	13: 50,246,685 (GRCm38)	P535L	probably benign	Het
Ikbip	G	A	10: 91,093,257 (GRCm38)		probably null	Het
Kcnb2	C	T	1: 15,710,809 (GRCm38)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,978,279 (GRCm38)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,570,957 (GRCm38)	T442A	probably benign	Het
Mgat1	T	A	11: 49,260,735 (GRCm38)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,385,151 (GRCm38)	S334R	probably benign	Het
Notch2	A	T	3: 98,147,296 (GRCm38)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,213,263 (GRCm38)	V520M	probably damaging	Het
Olfr1089	A	C	2: 86,733,177 (GRCm38)	I145R	possibly damaging	Het
Olfr1167	A	T	2: 88,149,578 (GRCm38)	V147E	probably damaging	Het
Olfr1179	T	A	2: 88,402,077 (GRCm38)	T286S	possibly damaging	Het
Olfr149	A	G	9: 39,702,253 (GRCm38)	V172A	probably damaging	Het
Olfr803	T	A	10: 129,692,018 (GRCm38)	T8S	probably benign	Het
Olfr972	A	T	9: 39,873,485 (GRCm38)	D70V	probably damaging	Het
Osr2	A	G	15: 35,301,992 (GRCm38)	H246R	probably damaging	Het
Papolg	T	C	11: 23,879,898 (GRCm38)	R224G	probably damaging	Het
Pax6	T	A	2: 105,692,278 (GRCm38)		probably null	Het
Pcyox1	A	G	6: 86,392,268 (GRCm38)	V192A	probably benign	Het
Phf1	C	T	17: 26,935,286 (GRCm38)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,332,391 (GRCm38)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,183,679 (GRCm38)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,927,673 (GRCm38)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,689,766 (GRCm38)	I70V	probably benign	Het
Rnf213	G	A	11: 119,418,309 (GRCm38)		probably benign	Het
Rom1	T	A	19: 8,928,004 (GRCm38)	I271F	probably benign	Het
Satb2	T	A	1: 56,796,793 (GRCm38)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,448,129 (GRCm38)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,646,140 (GRCm38)	I393V	probably damaging	Het
Spata20	T	A	11: 94,483,463 (GRCm38)	D327V	probably damaging	Het
Tbc1d32	G	T	10: 56,151,775 (GRCm38)	Q744K	possibly damaging	Het
Thegl	A	T	5: 77,060,758 (GRCm38)	I378L	probably benign	Het
Tmem108	G	T	9: 103,489,240 (GRCm38)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,862,461 (GRCm38)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,933,611 (GRCm38)	S119P	probably damaging	Het
Ubqln3	T	A	7: 104,142,316 (GRCm38)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,737,776 (GRCm38)	R638H	probably benign	Het
Wdr3	A	G	3: 100,150,982 (GRCm38)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,662,791 (GRCm38)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,614,232 (GRCm38)		probably benign	Het
Zmiz1	A	G	14: 25,656,879 (GRCm38)	M860V	probably damaging	Het
Zscan4d	T	C	7: 11,162,369 (GRCm38)	E358G	probably benign	Het

Other mutations in Hspa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Hspa9	APN	18	34,938,580 (GRCm38)	splice site	probably benign
IGL01939:Hspa9	APN	18	34,938,708 (GRCm38)	missense	possibly damaging	0.89
IGL02604:Hspa9	APN	18	34,954,213 (GRCm38)	missense	unknown
Chiri-san	UTSW	18	34,939,423 (GRCm38)	missense	probably damaging	1.00
R0238:Hspa9	UTSW	18	34,946,646 (GRCm38)	nonsense	probably null
R0238:Hspa9	UTSW	18	34,946,646 (GRCm38)	nonsense	probably null
R0278:Hspa9	UTSW	18	34,940,910 (GRCm38)	missense	possibly damaging	0.50
R0613:Hspa9	UTSW	18	34,947,980 (GRCm38)	missense	probably damaging	1.00
R1414:Hspa9	UTSW	18	34,938,591 (GRCm38)	missense	probably damaging	1.00
R1454:Hspa9	UTSW	18	34,938,606 (GRCm38)	missense	probably damaging	1.00
R2013:Hspa9	UTSW	18	34,946,648 (GRCm38)	missense	probably damaging	1.00
R2014:Hspa9	UTSW	18	34,946,648 (GRCm38)	missense	probably damaging	1.00
R2015:Hspa9	UTSW	18	34,946,648 (GRCm38)	missense	probably damaging	1.00
R2936:Hspa9	UTSW	18	34,948,014 (GRCm38)	missense	probably damaging	1.00
R4261:Hspa9	UTSW	18	34,939,423 (GRCm38)	missense	probably damaging	1.00
R4622:Hspa9	UTSW	18	34,949,037 (GRCm38)	missense	possibly damaging	0.48
R4819:Hspa9	UTSW	18	34,939,388 (GRCm38)	missense	probably damaging	0.98
R5056:Hspa9	UTSW	18	34,938,681 (GRCm38)	missense	probably damaging	1.00
R5223:Hspa9	UTSW	18	34,952,671 (GRCm38)	splice site	probably null
R5666:Hspa9	UTSW	18	34,954,247 (GRCm38)	missense	probably null
R5820:Hspa9	UTSW	18	34,943,174 (GRCm38)	missense	possibly damaging	0.82
R5944:Hspa9	UTSW	18	34,949,023 (GRCm38)	missense	possibly damaging	0.94
R6460:Hspa9	UTSW	18	34,952,712 (GRCm38)	missense	probably benign
R7404:Hspa9	UTSW	18	34,943,276 (GRCm38)	missense	possibly damaging	0.76
R7412:Hspa9	UTSW	18	34,949,029 (GRCm38)	missense	probably damaging	1.00
R7637:Hspa9	UTSW	18	34,938,687 (GRCm38)	missense	not run
R8524:Hspa9	UTSW	18	34,954,244 (GRCm38)	missense	unknown
R8830:Hspa9	UTSW	18	34,948,104 (GRCm38)	critical splice donor site	probably null
R8987:Hspa9	UTSW	18	34,947,929 (GRCm38)	missense	probably damaging	1.00
R9028:Hspa9	UTSW	18	34,942,031 (GRCm38)	missense	probably damaging	1.00
R9184:Hspa9	UTSW	18	34,949,115 (GRCm38)	missense	possibly damaging	0.87
R9709:Hspa9	UTSW	18	34,940,241 (GRCm38)	missense	possibly damaging	0.62
Z1177:Hspa9	UTSW	18	34,943,145 (GRCm38)	missense	possibly damaging	0.96

Posted On

2014-05-07