Mutagenetix > Incidental Mutation

Incidental Mutation 'R5056:Hspa9'

390872

Institutional Source

Beutler Lab

Gene Symbol

Hspa9

Ensembl Gene

ENSMUSG00000024359

Gene Name

heat shock protein 9

Synonyms

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

MMRRC Submission

042646-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5056 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35070467-35087404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35071734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 622 (L622P)

Ref Sequence

ENSEMBL: ENSMUSP00000025217 (fasta)

Gene Model

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

AlphaFold

P38647

Predicted Effect

probably damaging
Transcript: ENSMUST00000025217
AA Change: L622P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: L622P

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: ENSMUST00000083970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173701

Meta Mutation Damage Score

0.5222

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (73/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 117,698,421 (GRCm39)	K229*	probably null	Het
Adora2a	T	A	10: 75,161,992 (GRCm39)	S44T	probably damaging	Het
Agap3	T	C	5: 24,682,860 (GRCm39)	V459A	probably damaging	Het
Apc2	T	C	10: 80,137,148 (GRCm39)	V31A	probably benign	Het
Asic2	T	A	11: 80,862,429 (GRCm39)	K189N	possibly damaging	Het
Bbs10	C	T	10: 111,136,401 (GRCm39)	P505S	probably benign	Het
Brd10	A	T	19: 29,694,759 (GRCm39)	I1578K	probably benign	Het
Cdh20	G	T	1: 104,881,722 (GRCm39)	V396L	probably benign	Het
Cenpb	C	T	2: 131,020,091 (GRCm39)		probably benign	Het
Chil6	T	A	3: 106,301,659 (GRCm39)	Y147F	probably damaging	Het
Cluh	C	T	11: 74,552,772 (GRCm39)	R606C	probably damaging	Het
Cmtr1	A	G	17: 29,909,302 (GRCm39)	T404A	possibly damaging	Het
Cnot1	T	C	8: 96,467,636 (GRCm39)	N1499S	probably damaging	Het
Dmkn	T	C	7: 30,463,529 (GRCm39)	S61P	probably damaging	Het
Dmxl1	T	C	18: 50,003,990 (GRCm39)	C872R	probably benign	Het
Dnah3	A	G	7: 119,620,169 (GRCm39)	Y1587H	probably damaging	Het
Dsc2	A	T	18: 20,183,199 (GRCm39)	V73D	probably damaging	Het
F5	A	T	1: 164,019,601 (GRCm39)	Y692F	possibly damaging	Het
Fam184a	A	T	10: 53,550,670 (GRCm39)	L80I	probably damaging	Het
Foxj2	A	G	6: 122,810,833 (GRCm39)	H271R	probably benign	Het
Grm7	A	G	6: 111,057,404 (GRCm39)	T335A	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnd3	T	A	3: 105,574,244 (GRCm39)		probably benign	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrch4	C	G	5: 137,635,113 (GRCm39)	N237K	probably damaging	Het
Lss	T	G	10: 76,388,760 (GRCm39)		probably null	Het
Map6	T	C	7: 98,985,859 (GRCm39)	F588L	probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Med13	A	T	11: 86,219,391 (GRCm39)	S352T	probably benign	Het
Mettl16	T	A	11: 74,707,766 (GRCm39)	V320E	probably benign	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nup188	T	A	2: 30,194,143 (GRCm39)	D149E	probably damaging	Het
Ogfrl1	A	G	1: 23,418,130 (GRCm39)	S83P	probably damaging	Het
Or52l1	T	A	7: 104,829,779 (GRCm39)	H262L	probably damaging	Het
Or5m13	T	A	2: 85,748,480 (GRCm39)	D70E	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,364 (GRCm39)	I184F	unknown	Het
Or9m1	T	C	2: 87,733,915 (GRCm39)	Y35C	probably damaging	Het
Pafah1b3	C	T	7: 24,994,764 (GRCm39)	R98Q	probably damaging	Het
Pde6b	A	T	5: 108,571,357 (GRCm39)	K437*	probably null	Het
Ppp1r12b	A	T	1: 134,762,130 (GRCm39)		probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel34	T	C	5: 93,786,784 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,782,679 (GRCm39)	Q104R	possibly damaging	Het
Rgs22	A	T	15: 36,050,391 (GRCm39)		probably null	Het
Rnf14	C	T	18: 38,441,441 (GRCm39)	P277L	probably damaging	Het
Robo4	T	C	9: 37,316,102 (GRCm39)	S258P	probably benign	Het
Sfrp1	T	A	8: 23,907,420 (GRCm39)	F207I	probably damaging	Het
Sgms1	A	G	19: 32,137,087 (GRCm39)	S160P	probably damaging	Het
Sil1	T	C	18: 35,402,755 (GRCm39)	K263R	probably benign	Het
St14	A	G	9: 31,008,847 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,955,905 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,995,835 (GRCm39)	S1013P	probably benign	Het
Tent5b	C	T	4: 133,207,749 (GRCm39)	R47W	possibly damaging	Het
Tmem67	T	C	4: 12,070,471 (GRCm39)	S352G	probably benign	Het
Trib2	C	A	12: 15,843,795 (GRCm39)	K282N	possibly damaging	Het
Trnau1ap	T	C	4: 132,054,482 (GRCm39)		probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Unc93b1	A	G	19: 3,992,762 (GRCm39)	N305D	possibly damaging	Het
Usp32	A	G	11: 84,917,621 (GRCm39)	V802A	probably benign	Het
Vmn2r48	T	A	7: 9,676,251 (GRCm39)	H410L	probably damaging	Het
Wfs1	T	C	5: 37,132,931 (GRCm39)	N116S	probably benign	Het
Wif1	A	T	10: 120,935,684 (GRCm39)	H333L	probably benign	Het
Zfp109	T	C	7: 23,928,162 (GRCm39)	T416A	possibly damaging	Het
Zfp808	T	A	13: 62,320,444 (GRCm39)	C558S	probably damaging	Het
Zpbp	T	C	11: 11,409,734 (GRCm39)	D116G	possibly damaging	Het

Other mutations in Hspa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Hspa9	APN	18	35,071,633 (GRCm39)	splice site	probably benign
IGL01939:Hspa9	APN	18	35,071,761 (GRCm39)	missense	possibly damaging	0.89
IGL02008:Hspa9	APN	18	35,081,028 (GRCm39)	nonsense	probably null
IGL02604:Hspa9	APN	18	35,087,266 (GRCm39)	missense	unknown
Chiri-san	UTSW	18	35,072,476 (GRCm39)	missense	probably damaging	1.00
R0238:Hspa9	UTSW	18	35,079,699 (GRCm39)	nonsense	probably null
R0238:Hspa9	UTSW	18	35,079,699 (GRCm39)	nonsense	probably null
R0278:Hspa9	UTSW	18	35,073,963 (GRCm39)	missense	possibly damaging	0.50
R0613:Hspa9	UTSW	18	35,081,033 (GRCm39)	missense	probably damaging	1.00
R1414:Hspa9	UTSW	18	35,071,644 (GRCm39)	missense	probably damaging	1.00
R1454:Hspa9	UTSW	18	35,071,659 (GRCm39)	missense	probably damaging	1.00
R2013:Hspa9	UTSW	18	35,079,701 (GRCm39)	missense	probably damaging	1.00
R2014:Hspa9	UTSW	18	35,079,701 (GRCm39)	missense	probably damaging	1.00
R2015:Hspa9	UTSW	18	35,079,701 (GRCm39)	missense	probably damaging	1.00
R2936:Hspa9	UTSW	18	35,081,067 (GRCm39)	missense	probably damaging	1.00
R4261:Hspa9	UTSW	18	35,072,476 (GRCm39)	missense	probably damaging	1.00
R4622:Hspa9	UTSW	18	35,082,090 (GRCm39)	missense	possibly damaging	0.48
R4819:Hspa9	UTSW	18	35,072,441 (GRCm39)	missense	probably damaging	0.98
R5223:Hspa9	UTSW	18	35,085,724 (GRCm39)	splice site	probably null
R5666:Hspa9	UTSW	18	35,087,300 (GRCm39)	missense	probably null
R5820:Hspa9	UTSW	18	35,076,227 (GRCm39)	missense	possibly damaging	0.82
R5944:Hspa9	UTSW	18	35,082,076 (GRCm39)	missense	possibly damaging	0.94
R6460:Hspa9	UTSW	18	35,085,765 (GRCm39)	missense	probably benign
R7404:Hspa9	UTSW	18	35,076,329 (GRCm39)	missense	possibly damaging	0.76
R7412:Hspa9	UTSW	18	35,082,082 (GRCm39)	missense	probably damaging	1.00
R7637:Hspa9	UTSW	18	35,071,740 (GRCm39)	missense	not run
R8524:Hspa9	UTSW	18	35,087,297 (GRCm39)	missense	unknown
R8830:Hspa9	UTSW	18	35,081,157 (GRCm39)	critical splice donor site	probably null
R8987:Hspa9	UTSW	18	35,080,982 (GRCm39)	missense	probably damaging	1.00
R9028:Hspa9	UTSW	18	35,075,084 (GRCm39)	missense	probably damaging	1.00
R9184:Hspa9	UTSW	18	35,082,168 (GRCm39)	missense	possibly damaging	0.87
R9709:Hspa9	UTSW	18	35,073,294 (GRCm39)	missense	possibly damaging	0.62
Z1177:Hspa9	UTSW	18	35,076,198 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAACAGGCTTCATTCACCG -3'
(R):5'- ACCAGTTGCCTGCTGATGAG -3'

Sequencing Primer
(F):5'- GGCTTCATTCACCGTACAAAC -3'
(R):5'- GCCTGCTGATGAGGTAACAATTCAC -3'

Posted On

2016-06-06