Incidental Mutation 'R0238:Hspa9'
ID 66151
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 038476-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R0238 (G1)
Quality Score 221
Status Not validated
Chromosome 18
Chromosomal Location 35070467-35087404 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 35079699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 243 (Y243*)
Ref Sequence ENSEMBL: ENSMUSP00000025217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025217]
AlphaFold P38647
Predicted Effect probably null
Transcript: ENSMUST00000025217
AA Change: Y243*
SMART Domains Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: Y243*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173806
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 92.6%
  • 20x: 76.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,392,893 (GRCm39) V94G probably benign Het
Acp5 A T 9: 22,041,218 (GRCm39) S70T possibly damaging Het
Adcy1 C G 11: 7,089,162 (GRCm39) N525K possibly damaging Het
Aknad1 A G 3: 108,688,555 (GRCm39) M628V probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Ccdc158 A C 5: 92,809,977 (GRCm39) M177R probably benign Het
Ccdc191 A T 16: 43,767,859 (GRCm39) R678* probably null Het
Cdkn2d C A 9: 21,202,288 (GRCm39) probably benign Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap44 T A 16: 44,242,681 (GRCm39) M695K probably benign Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chd9 T C 8: 91,659,456 (GRCm39) S139P probably damaging Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
Cnga1 A G 5: 72,762,374 (GRCm39) I380T probably damaging Het
Cts6 T A 13: 61,349,633 (GRCm39) E53D probably damaging Het
Dclk3 A T 9: 111,311,696 (GRCm39) N646I probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Fam163b T C 2: 27,002,646 (GRCm39) N117S probably damaging Het
Fam89a A G 8: 125,467,971 (GRCm39) Y114H probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gm20422 T C 8: 70,219,365 (GRCm39) Y53C probably damaging Het
Gnai1 A G 5: 18,478,548 (GRCm39) S206P probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Haus3 G A 5: 34,323,600 (GRCm39) P337S possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Htr3a T C 9: 48,817,686 (GRCm39) T96A probably benign Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Jph3 A G 8: 122,480,459 (GRCm39) Q379R possibly damaging Het
Kcnb1 A G 2: 166,946,889 (GRCm39) V653A probably benign Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Map3k21 A G 8: 126,671,709 (GRCm39) D999G possibly damaging Het
Marf1 T C 16: 13,969,147 (GRCm39) I109V probably benign Het
Mcam T G 9: 44,051,502 (GRCm39) probably null Het
Med18 T C 4: 132,187,337 (GRCm39) H99R probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo1e A T 9: 70,249,408 (GRCm39) I503F possibly damaging Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Myorg A T 4: 41,498,912 (GRCm39) N239K probably benign Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nlrp9c A G 7: 26,077,437 (GRCm39) S727P possibly damaging Het
Nmbr C T 10: 14,646,139 (GRCm39) Q338* probably null Het
Nt5e A G 9: 88,249,385 (GRCm39) S440G possibly damaging Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pa2g4 T C 10: 128,399,511 (GRCm39) K51R probably benign Het
Pcdhb12 A G 18: 37,569,780 (GRCm39) I309V probably benign Het
Pck1 T G 2: 172,998,861 (GRCm39) I373S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Rab39 G A 9: 53,617,330 (GRCm39) T29I probably damaging Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Rars2 A C 4: 34,656,030 (GRCm39) Q421P probably benign Het
Rars2 T C 4: 34,645,838 (GRCm39) Y252H probably damaging Het
Rasa2 A T 9: 96,450,460 (GRCm39) D479E probably damaging Het
Rbl2 A T 8: 91,833,135 (GRCm39) T689S probably damaging Het
Rims4 C T 2: 163,705,945 (GRCm39) V230M probably benign Het
Skp2 A C 15: 9,127,971 (GRCm39) probably null Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc4a2 A T 5: 24,641,272 (GRCm39) probably null Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Susd5 A G 9: 113,925,977 (GRCm39) *620W probably null Het
Timm21 T C 18: 84,965,791 (GRCm39) N239S probably damaging Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tnrc6b A G 15: 80,772,065 (GRCm39) D1118G probably damaging Het
Traf2 G C 2: 25,427,138 (GRCm39) A71G possibly damaging Het
Trim54 A G 5: 31,291,463 (GRCm39) M195V probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trp73 AGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTG 4: 154,146,981 (GRCm39) probably benign Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp329 G T 7: 12,544,756 (GRCm39) T256K probably damaging Het
Zfp729b A G 13: 67,740,022 (GRCm39) Y748H probably damaging Het
Zfp777 T C 6: 48,001,903 (GRCm39) E773G 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
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
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
Posted On 2013-08-19