Mutagenetix > Incidental Mutations

Incidental Mutation 'R7637:Hspa9'

590036

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7637 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34937414-34954357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34938687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 620 (A620E)

Ref Sequence

ENSEMBL: ENSMUSP00000025217 (fasta)

Gene Model

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

AlphaFold

P38647

Predicted Effect

not run
Transcript: ENSMUST00000025217
AA Change: A620E

SMART Domains

Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: A620E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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
Abca6	T	A	11: 110,218,952	Q651L	probably benign	Het
Adam8	C	T	7: 139,985,430	V624I	probably damaging	Het
Ccdc144b	T	A	3: 36,046,876	Q49L	probably damaging	Het
Cltc	T	C	11: 86,730,332	H287R	probably damaging	Het
Cmya5	T	C	13: 93,083,212	K3243R	possibly damaging	Het
Dock5	G	A	14: 67,786,340	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,671,247	M237L	probably benign	Het
Fars2	G	T	13: 36,204,775	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm5767	C	T	16: 8,683,646	P59L	unknown	Het
Gnat3	A	G	5: 18,003,772	D158G		Het
Grhl2	A	C	15: 37,328,330	N400T	probably damaging	Het
Grin2c	A	T	11: 115,256,259		probably null	Het
Hipk4	A	G	7: 27,523,548	Y11C	probably damaging	Het
Igkv12-89	A	G	6: 68,835,099	S29P	probably benign	Het
Itga8	A	T	2: 12,109,187	D1039E	probably damaging	Het
Itgae	A	T	11: 73,113,631	D248V	probably damaging	Het
Kmt2c	T	C	5: 25,315,095	K2006E	probably damaging	Het
Mdga1	C	T	17: 29,832,379	G934R	probably benign	Het
Mov10	T	C	3: 104,795,885	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080		probably null	Het
Nlk	T	C	11: 78,591,005		probably null	Het
Notch2	T	A	3: 98,146,623	S2201T	probably damaging	Het
Olfr152	A	T	2: 87,783,434	D298V	probably damaging	Het
Pank1	A	C	19: 34,821,988		probably null	Het
Pdlim3	T	C	8: 45,909,065	F126S	probably damaging	Het
Pds5a	C	A	5: 65,638,604	G648C	probably benign	Het
Plekhh3	T	C	11: 101,164,327	I567V	unknown	Het
Ppfia2	T	C	10: 106,865,403		probably null	Het
Prl3d1	A	G	13: 27,100,069	D207G	probably damaging	Het
Prss23	T	A	7: 89,510,246	D205V	probably benign	Het
Pygl	C	T	12: 70,197,795		probably null	Het
Qsox2	A	G	2: 26,221,020	F111S	probably damaging	Het
Sart3	T	C	5: 113,771,352	N95S	probably benign	Het
Scpep1	A	G	11: 88,929,220	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,937,348	Y105*	probably null	Het
Sirpa	A	G	2: 129,616,445	D327G	probably benign	Het
Sowahc	G	A	10: 59,222,183	R47H	probably damaging	Het
Szt2	T	C	4: 118,393,828	Y361C	probably damaging	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tie1	T	C	4: 118,472,978	I1042M	probably damaging	Het
Tmem132e	T	A	11: 82,434,516	L114Q	probably damaging	Het
Tmx3	A	G	18: 90,537,109	T317A	probably damaging	Het
Tppp3	A	G	8: 105,468,292	V69A	probably benign	Het
Tpr	T	C	1: 150,423,516	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,365,296	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,607,492	P928S	probably benign	Het
Unc80	G	T	1: 66,672,684	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,382,675	L46F	probably benign	Het
Vps13a	A	T	19: 16,750,149	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,793,474	C75*	probably null	Het
Zfp335	A	G	2: 164,892,539		probably null	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
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
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

Predicted Primers

Posted On

2019-10-24