Incidental Mutation 'R7404:Hspa9'
ID 574470
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 045486-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R7404 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 35070467-35087404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35076329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 328 (N328D)
Ref Sequence ENSEMBL: ENSMUSP00000025217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025217]
AlphaFold P38647
Predicted Effect possibly damaging
Transcript: ENSMUST00000025217
AA Change: N328D

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: N328D

DomainStartEndE-ValueType
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 99% (92/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,955,099 (GRCm39) A297T probably damaging Het
Adprhl1 T A 8: 13,275,118 (GRCm39) S547C probably damaging Het
Ankrd63 G C 2: 118,533,793 (GRCm39) R43G unknown Het
Asah2 T C 19: 32,035,254 (GRCm39) T24A probably benign Het
Asb17 G A 3: 153,550,447 (GRCm39) probably null Het
Atp8b5 C T 4: 43,342,640 (GRCm39) T437I probably benign Het
Bbs2 T C 8: 94,808,992 (GRCm39) D311G probably damaging Het
Birc6 C T 17: 74,946,789 (GRCm39) T2851I possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Cchcr1 T C 17: 35,835,693 (GRCm39) W266R probably benign Het
Col14a1 C A 15: 55,252,024 (GRCm39) S560* probably null Het
Crocc G A 4: 140,753,497 (GRCm39) T1317M possibly damaging Het
Cxxc1 T A 18: 74,352,278 (GRCm39) V334E possibly damaging Het
Cyp3a25 T A 5: 145,923,635 (GRCm39) D336V probably damaging Het
Dapk1 A G 13: 60,867,455 (GRCm39) T221A probably benign Het
Dnah11 G T 12: 118,068,543 (GRCm39) T1605K probably benign Het
Dnah7c T C 1: 46,705,223 (GRCm39) V2412A possibly damaging Het
Ect2l T A 10: 18,035,529 (GRCm39) D524V probably damaging Het
Ehbp1l1 T C 19: 5,770,872 (GRCm39) E223G possibly damaging Het
Ephb2 A T 4: 136,498,524 (GRCm39) M185K probably damaging Het
Fcer1a T C 1: 173,049,083 (GRCm39) K243E probably damaging Het
Fcgbp T A 7: 27,800,932 (GRCm39) I1326N probably damaging Het
Fgfr1 T C 8: 26,045,566 (GRCm39) V45A probably benign Het
Filip1 T A 9: 79,727,380 (GRCm39) E413V possibly damaging Het
Frs3 T C 17: 48,013,651 (GRCm39) probably null Het
Fstl4 A G 11: 53,024,898 (GRCm39) T257A probably benign Het
Golga5 A T 12: 102,450,778 (GRCm39) K477M probably damaging Het
Gpr171 A T 3: 59,005,622 (GRCm39) I51K probably damaging Het
H1f0 T A 15: 78,913,080 (GRCm39) Y53* probably null Het
Hephl1 A G 9: 14,981,047 (GRCm39) V795A possibly damaging Het
Hmcn1 A T 1: 150,596,510 (GRCm39) D1775E probably benign Het
Hs3st2 A G 7: 121,100,168 (GRCm39) D338G possibly damaging Het
Hsd3b6 T A 3: 98,713,534 (GRCm39) Y255F probably benign Het
Hvcn1 T A 5: 122,375,748 (GRCm39) I100N probably damaging Het
Ifi207 C T 1: 173,556,494 (GRCm39) S748N possibly damaging Het
Katnip A T 7: 125,464,434 (GRCm39) N1267I probably damaging Het
Kcnma1 G T 14: 24,052,902 (GRCm39) T180K unknown Het
Kctd16 A G 18: 40,391,826 (GRCm39) D138G probably damaging Het
Kifc3 A G 8: 95,830,092 (GRCm39) Y605H probably benign Het
Kmt2d T A 15: 98,743,376 (GRCm39) Q3928L unknown Het
Lamb2 C T 9: 108,364,782 (GRCm39) R1179C probably damaging Het
Layn T A 9: 50,968,670 (GRCm39) I358F possibly damaging Het
Lrig1 G A 6: 94,603,452 (GRCm39) T232M probably damaging Het
Lrp1 T C 10: 127,418,577 (GRCm39) T38A Het
Map3k14 A G 11: 103,129,918 (GRCm39) V333A probably benign Het
Med13 T C 11: 86,177,272 (GRCm39) D1608G possibly damaging Het
Mrps31 T G 8: 22,911,429 (GRCm39) S224A probably benign Het
Msh6 G T 17: 88,282,548 (GRCm39) Het
Ncapd3 A G 9: 26,978,315 (GRCm39) D838G probably benign Het
Nlrp1a C A 11: 70,987,919 (GRCm39) E1184* probably null Het
Npat T A 9: 53,466,233 (GRCm39) probably null Het
Nup210 A T 6: 91,050,227 (GRCm39) I414N probably benign Het
Or1e19 A T 11: 73,316,419 (GRCm39) L130H probably damaging Het
Or52n2 A T 7: 104,542,181 (GRCm39) V218E possibly damaging Het
Or5b122 T A 19: 13,562,752 (GRCm39) I28N possibly damaging Het
Or5h19 T C 16: 58,856,603 (GRCm39) T166A possibly damaging Het
Or6z5 T C 7: 6,477,163 (GRCm39) L18P probably damaging Het
Or8b12c A T 9: 37,715,257 (GRCm39) T17S possibly damaging Het
Or8h7 A C 2: 86,721,217 (GRCm39) L101V probably benign Het
Otud7b G C 3: 96,043,936 (GRCm39) probably null Het
Phf11d A C 14: 59,596,942 (GRCm39) W86G probably benign Het
Pik3c2b T A 1: 133,018,444 (GRCm39) S964T probably damaging Het
Pira1 T C 7: 3,742,344 (GRCm39) Y61C probably damaging Het
Plod3 G A 5: 137,023,901 (GRCm39) V687I probably benign Het
Poglut1 T G 16: 38,358,284 (GRCm39) Y208S possibly damaging Het
Pou1f1 T A 16: 65,330,749 (GRCm39) L253H probably damaging Het
Pou2f1 C T 1: 165,738,955 (GRCm39) A166T unknown Het
Rhbdl3 C T 11: 80,237,659 (GRCm39) S297L probably damaging Het
Rxra A T 2: 27,631,866 (GRCm39) N179I probably damaging Het
Ryr2 C T 13: 11,750,506 (GRCm39) E1922K probably damaging Het
Scube1 T C 15: 83,499,211 (GRCm39) Y668C probably damaging Het
Sec16b A G 1: 157,358,927 (GRCm39) Y120C probably damaging Het
Sec61b G T 4: 47,483,047 (GRCm39) K92N probably damaging Het
Skic3 T A 13: 76,296,866 (GRCm39) Y1074* probably null Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc17a7 T A 7: 44,822,354 (GRCm39) Y397N probably benign Het
Slc25a3 A G 10: 90,952,902 (GRCm39) V333A possibly damaging Het
Slc7a8 A T 14: 54,964,283 (GRCm39) V390E probably damaging Het
Sorbs2 G A 8: 46,212,233 (GRCm39) probably null Het
Srgap1 T C 10: 121,621,650 (GRCm39) N948D probably benign Het
Tacc2 A T 7: 130,225,066 (GRCm39) T584S probably benign Het
Tec A T 5: 72,920,961 (GRCm39) D471E probably damaging Het
Tecpr2 C T 12: 110,898,038 (GRCm39) A430V probably benign Het
Tmcc2 A T 1: 132,288,759 (GRCm39) D309E probably damaging Het
Tmem82 G A 4: 141,344,742 (GRCm39) A67V possibly damaging Het
Ttc23l T C 15: 10,551,663 (GRCm39) Q21R probably damaging Het
Ubl3 A G 5: 148,448,764 (GRCm39) F26L probably damaging Het
Upf2 A G 2: 6,045,014 (GRCm39) E1088G unknown Het
Usp9y T A Y: 1,341,780 (GRCm39) I1362F probably benign Het
Wnk4 T A 11: 101,159,318 (GRCm39) probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfc3h1 T A 10: 115,251,153 (GRCm39) V1248D probably damaging Het
Zfp12 T A 5: 143,226,099 (GRCm39) V56D probably damaging Het
Other mutations in Hspa9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTTGTCATGCCACCAACCAG -3'
(R):5'- ACAGACTGAGTGCTGAGATTAGATATG -3'

Sequencing Primer
(F):5'- AACCAGAATCACTTCTCCTATGTC -3'
(R):5'- GTGCTTTTCAAGTCCGT -3'
Posted On 2019-09-13