Mutagenetix > Incidental Mutation

Incidental Mutation 'R5666:Hspa9'

444455

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

043309-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5666 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

35070467-35087404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35087300 bp (GRCm39)

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: 100,127,068 (GRCm39)		probably benign	Het
Abce1	C	A	8: 80,416,906 (GRCm39)	E368D	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Bop1	T	C	15: 76,338,433 (GRCm39)	E503G	probably benign	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Chd3	T	C	11: 69,244,177 (GRCm39)	E1202G	possibly damaging	Het
Cmya5	T	C	13: 93,182,457 (GRCm39)	I3568V	possibly damaging	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,656,625 (GRCm39)	E546K	probably benign	Het
Cyp2j5	C	T	4: 96,546,930 (GRCm39)	V195I	probably benign	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
E2f1	T	A	2: 154,411,101 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,041,241 (GRCm39)	N732S	probably benign	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Foxm1	C	T	6: 128,350,130 (GRCm39)	S339L	possibly damaging	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Gfpt1	A	T	6: 87,030,795 (GRCm39)	I60F	possibly damaging	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Hs2st1	A	T	3: 144,275,554 (GRCm39)	V22E	probably damaging	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Myh1	T	A	11: 67,112,178 (GRCm39)	I1744N	probably benign	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Ndc1	T	C	4: 107,246,723 (GRCm39)	V382A	possibly damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nmt1	C	T	11: 102,949,041 (GRCm39)	R299*	probably null	Het
Or1j20	T	A	2: 36,760,401 (GRCm39)	D274E	probably benign	Het
Or2y8	A	C	11: 52,035,525 (GRCm39)	Y277*	probably null	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Padi2	G	T	4: 140,676,542 (GRCm39)	R560L	possibly damaging	Het
Palmd	T	C	3: 116,717,750 (GRCm39)	N249S	possibly damaging	Het
Pde1c	A	C	6: 56,103,842 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pla2g2d	T	A	4: 138,507,591 (GRCm39)	C82S	probably damaging	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Slc7a4	A	G	16: 17,393,815 (GRCm39)		probably benign	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Sstr2	T	A	11: 113,515,539 (GRCm39)	W153R	probably damaging	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tas2r130	T	C	6: 131,607,342 (GRCm39)	N151S	possibly damaging	Het
Tex52	T	C	6: 128,352,518 (GRCm39)	S13P	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	probably benign	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
R5056:Hspa9	UTSW	18	35,071,734 (GRCm39)	missense	probably damaging	1.00
R5223:Hspa9	UTSW	18	35,085,724 (GRCm39)	splice site	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'- CTGCAAGAAGGCCAACAATG -3'
(R):5'- GTAGTCTCTAGTCAGGCAGCAC -3'

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

Posted On

2016-11-09