Mutagenetix > Incidental Mutations

Incidental Mutation 'R5666:Hspa9'

444455

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

043309-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5666 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

34937414-34954357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34954247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2 (I2V)

Ref Sequence

ENSEMBL: ENSMUSP00000025217 (fasta)

Gene Model

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

AlphaFold

P38647

Predicted Effect

probably null
Transcript: ENSMUST00000025217
AA Change: I2V

SMART Domains

Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: I2V

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

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Abce1	C	A	8: 79,690,277	E368D	probably benign	Het
Bmper	T	A	9: 23,473,463	M588K	probably damaging	Het
Bop1	T	C	15: 76,454,233	E503G	probably benign	Het
Btla	A	T	16: 45,250,419	D247V	probably damaging	Het
Cap2	T	A	13: 46,531,083		probably null	Het
Chd2	A	T	7: 73,441,717	I1592K	probably benign	Het
Chd3	T	C	11: 69,353,351	E1202G	possibly damaging	Het
Cmya5	T	C	13: 93,045,949	I3568V	possibly damaging	Het
Col4a4	A	G	1: 82,485,579		probably null	Het
Cpxm2	C	T	7: 132,054,896	E546K	probably benign	Het
Cyp2j5	C	T	4: 96,658,693	V195I	probably benign	Het
Ddb2	C	T	2: 91,212,581	V353M	probably damaging	Het
Dscam	G	A	16: 96,718,164	T791I	probably benign	Het
Dtd2	T	A	12: 51,999,860	L65F	probably damaging	Het
E2f1	T	A	2: 154,569,181		probably benign	Het
Ephb3	A	G	16: 21,222,491	N732S	probably benign	Het
Fkbp10	G	T	11: 100,423,526	W384L	probably damaging	Het
Foxm1	C	T	6: 128,373,167	S339L	possibly damaging	Het
Fzd6	A	T	15: 39,031,115	R225S	probably benign	Het
Gfpt1	A	T	6: 87,053,813	I60F	possibly damaging	Het
Glce	A	G	9: 62,060,511	S453P	probably damaging	Het
Gm38100	C	T	1: 175,921,613	T415M	probably damaging	Het
Gm4787	G	A	12: 81,378,031	T451I	probably benign	Het
Hs2st1	A	T	3: 144,569,793	V22E	probably damaging	Het
Ikzf2	A	G	1: 69,577,900	V96A	probably benign	Het
Ilkap	T	C	1: 91,391,141	T38A	probably benign	Het
Lpin3	A	G	2: 160,897,330	T353A	probably benign	Het
Myh1	T	A	11: 67,221,352	I1744N	probably benign	Het
Nadsyn1	C	T	7: 143,807,431	G335S	probably damaging	Het
Ndc1	T	C	4: 107,389,526	V382A	possibly damaging	Het
Ndufaf4	A	T	4: 24,898,636	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,677,118	T213A	probably benign	Het
Nkain4	A	G	2: 180,943,202	L73P	probably damaging	Het
Nmt1	C	T	11: 103,058,215	R299*	probably null	Het
Olfr1271	T	C	2: 90,265,964	I155M	probably benign	Het
Olfr1373	A	C	11: 52,144,698	Y277*	probably null	Het
Olfr173	G	A	16: 58,797,061	P262S	possibly damaging	Het
Olfr352	T	A	2: 36,870,389	D274E	probably benign	Het
Padi2	G	T	4: 140,949,231	R560L	possibly damaging	Het
Palmd	T	C	3: 116,924,101	N249S	possibly damaging	Het
Pde1c	A	C	6: 56,126,857		probably null	Het
Pdgfra	T	C	5: 75,173,495	S410P	probably benign	Het
Phldb1	T	C	9: 44,715,781	M456V	probably damaging	Het
Pla2g2d	T	A	4: 138,780,280	C82S	probably damaging	Het
Rgs21	A	G	1: 144,536,942	V48A	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Slc4a2	G	T	5: 24,434,838	V506L	probably damaging	Het
Slc7a4	A	G	16: 17,575,951		probably benign	Het
Sptbn5	C	G	2: 120,085,567		probably benign	Het
Sstr2	T	A	11: 113,624,713	W153R	probably damaging	Het
Steap2	C	T	5: 5,673,681	V400I	probably benign	Het
Syne2	G	A	12: 75,950,959	G2236D	probably benign	Het
Tas2r130	T	C	6: 131,630,379	N151S	possibly damaging	Het
Tex52	T	C	6: 128,375,555	S13P	probably benign	Het
Tmprss13	A	G	9: 45,344,955	I456V	probably damaging	Het
Trim24	T	C	6: 37,965,601	F946S	probably benign	Het
Vmn2r10	A	T	5: 108,999,044	Y459*	probably null	Het
Vwa1	A	G	4: 155,774,465	L13P	probably damaging	Het
Zfp648	C	A	1: 154,204,217	Q41K	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
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
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
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

PCR Primer
(F):5'- CTGCAAGAAGGCCAACAATG -3'
(R):5'- GTAGTCTCTAGTCAGGCAGCAC -3'

Sequencing Primer
(F):5'- AGAAGGTCCGTTACATCCCTTCG -3'
(R):5'- TAGTCAGGCAGCACGTCGG -3'

Posted On

2016-11-09