Mutagenetix > Incidental Mutation

Incidental Mutation 'R9184:Hspa9'

697275

Institutional Source

Beutler Lab

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

MMRRC Submission

068979-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R9184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34937414-34954357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34949115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 146 (R146H)

Ref Sequence

ENSEMBL: ENSMUSP00000025217 (fasta)

Gene Model

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

AlphaFold

P38647

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025217
AA Change: R146H

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: R146H

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

Meta Mutation Damage Score

0.1088

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,271,388 (GRCm38)	L692S	probably damaging	Het
6030452D12Rik	T	C	8: 106,507,269 (GRCm38)	V199A	unknown	Het
Abca7	A	G	10: 80,002,856 (GRCm38)	H621R	probably damaging	Het
Adam18	T	A	8: 24,647,831 (GRCm38)	N331I	probably benign	Het
Akt1	A	G	12: 112,654,718 (GRCm38)	S475P	possibly damaging	Het
Arc	A	G	15: 74,671,930 (GRCm38)	V148A	probably damaging	Het
Atg2a	T	C	19: 6,241,857 (GRCm38)	L21P	probably damaging	Het
C1qtnf2	T	C	11: 43,474,353 (GRCm38)	V25A	probably benign	Het
Cald1	G	T	6: 34,753,577 (GRCm38)	E244D	unknown	Het
Cdc42bpa	T	A	1: 180,144,736 (GRCm38)	F1368I	probably benign	Het
Cfap61	G	A	2: 146,077,388 (GRCm38)	C680Y	probably null	Het
Chd1	T	A	17: 15,742,289 (GRCm38)	N769K	possibly damaging	Het
Clasp1	T	A	1: 118,543,178 (GRCm38)	V848E	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm38)		probably benign	Het
Ctsb	G	T	14: 63,138,095 (GRCm38)	G170V	probably damaging	Het
Dnah5	A	G	15: 28,340,406 (GRCm38)	K2320E	probably benign	Het
Fat4	A	T	3: 38,982,443 (GRCm38)	I3415F	probably damaging	Het
Fibcd1	A	G	2: 31,816,476 (GRCm38)	S448P	probably damaging	Het
Filip1	T	C	9: 79,898,260 (GRCm38)	K71E	probably benign	Het
Gad2	G	A	2: 22,668,319 (GRCm38)	V350I	probably benign	Het
Gigyf2	T	A	1: 87,440,589 (GRCm38)	S1032T	possibly damaging	Het
Glis3	T	C	19: 28,531,607 (GRCm38)	T326A	probably damaging	Het
Jakmip2	A	G	18: 43,582,287 (GRCm38)	I58T	probably benign	Het
Kcnk15	G	A	2: 163,858,686 (GRCm38)	V282M	probably benign	Het
Klk1b8	A	G	7: 43,952,734 (GRCm38)	N30S	probably benign	Het
Lpin2	T	A	17: 71,233,916 (GRCm38)	Y454*	probably null	Het
Mcam	T	C	9: 44,135,248 (GRCm38)		probably benign	Het
Mms22l	T	C	4: 24,596,182 (GRCm38)	L1047S	probably damaging	Het
Neb	A	G	2: 52,328,755 (GRCm38)	I81T	possibly damaging	Het
Neurod4	A	T	10: 130,271,089 (GRCm38)	D105E	probably damaging	Het
Nlrp1b	A	G	11: 71,181,241 (GRCm38)	L592P	probably damaging	Het
Nnt	C	A	13: 119,381,734 (GRCm38)	K302N	probably damaging	Het
Notch4	T	C	17: 34,587,390 (GRCm38)	F1767S	probably damaging	Het
Olfr1195	C	A	2: 88,683,175 (GRCm38)	A186S	possibly damaging	Het
Olfr48	T	A	2: 89,844,950 (GRCm38)	I8F	probably benign	Het
Olfr828	T	C	9: 18,815,842 (GRCm38)	I151V	probably benign	Het
Pcdhga4	A	T	18: 37,687,407 (GRCm38)	I670F	possibly damaging	Het
Pdp1	T	C	4: 11,962,143 (GRCm38)	E75G	possibly damaging	Het
Pds5b	T	A	5: 150,800,784 (GRCm38)	N1275K	probably benign	Het
Pink1	G	T	4: 138,321,010 (GRCm38)	Q134K	probably benign	Het
Poli	T	A	18: 70,509,179 (GRCm38)	H650L	probably damaging	Het
Prickle2	G	A	6: 92,411,524 (GRCm38)	P355L	possibly damaging	Het
Prkaca	G	A	8: 83,990,676 (GRCm38)	G194D	probably benign	Het
Ptgs2	A	T	1: 150,104,424 (GRCm38)	Y371F	probably damaging	Het
Rarb	C	T	14: 16,818,881 (GRCm38)		probably benign	Het
Rarb	T	A	14: 16,818,882 (GRCm38)		probably benign	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,571,292 (GRCm38)		probably benign	Het
Serpinb1b	T	G	13: 33,085,410 (GRCm38)	V42G	probably damaging	Het
Sgsm2	T	A	11: 74,892,008 (GRCm38)	I41F	possibly damaging	Het
Slc26a5	T	A	5: 21,813,882 (GRCm38)	D653V	probably damaging	Het
Slc26a7	C	T	4: 14,506,630 (GRCm38)	V602M	possibly damaging	Het
Slu7	T	C	11: 43,443,397 (GRCm38)	S417P	probably damaging	Het
Smad2	T	A	18: 76,289,100 (GRCm38)	D194E	probably benign	Het
Sntg1	A	T	1: 8,677,832 (GRCm38)	V112E	probably damaging	Het
Strip1	A	T	3: 107,614,663 (GRCm38)	M733K	probably benign	Het
Szt2	G	A	4: 118,384,529 (GRCm38)	S1655L	possibly damaging	Het
Ttn	A	T	2: 76,769,605 (GRCm38)	I19075N	probably benign	Het
Urb2	C	T	8: 124,045,151 (GRCm38)	T1437I	probably benign	Het
Vmn2r111	T	A	17: 22,571,841 (GRCm38)	I159F	probably benign	Het
Zfp78	T	C	7: 6,379,301 (GRCm38)	V450A	probably damaging	Het
Zmynd11	T	A	13: 9,693,439 (GRCm38)	H314L	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
IGL02008:Hspa9	APN	18	34,947,975 (GRCm38)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AACCCAATCTGCAGGTTCTACC -3'
(R):5'- AAGTCAGTGTTCAACTTCTTCCTTG -3'

Sequencing Primer
(F):5'- AGCTTCAGACTCCATTATCTACAG -3'
(R):5'- TGCATCTGTACTTATTTTTGTGACC -3'

Posted On

2022-02-07