Incidental Mutation 'IGL02008:Hspa9'
ID 183237
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL02008
Quality Score
Chromosome 18
Chromosomal Location 34937414-34954357 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 34947975 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 218 (R218*)
Ref Sequence ENSEMBL: ENSMUSP00000025217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025217]
AlphaFold P38647
Predicted Effect probably null
Transcript: ENSMUST00000025217
AA Change: R218*
SMART Domains Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: R218*

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,176,101 (GRCm38) T2252A probably benign Het
Abcc2 C T 19: 43,821,750 (GRCm38) probably benign Het
Abcf1 T C 17: 35,962,062 (GRCm38) E231G probably benign Het
Astn2 T C 4: 66,059,153 (GRCm38) Y379C probably damaging Het
Atp8b1 G T 18: 64,538,695 (GRCm38) probably benign Het
Atr T A 9: 95,881,420 (GRCm38) probably benign Het
Bdp1 A G 13: 100,023,827 (GRCm38) S2349P possibly damaging Het
Bmp2 T C 2: 133,560,966 (GRCm38) S146P probably damaging Het
Cacna1c T C 6: 118,715,924 (GRCm38) S218G probably null Het
Cand2 T C 6: 115,803,638 (GRCm38) V1161A probably damaging Het
Clec16a T C 16: 10,580,960 (GRCm38) V330A probably damaging Het
Cpsf1 A T 15: 76,603,091 (GRCm38) V161D probably damaging Het
Ctsh A G 9: 90,061,547 (GRCm38) Y75C probably damaging Het
Cyp26c1 C A 19: 37,688,923 (GRCm38) L267M probably damaging Het
Cyp26c1 T A 19: 37,688,924 (GRCm38) L267Q probably damaging Het
Cyp2c50 G A 19: 40,091,099 (GRCm38) W212* probably null Het
Dnah5 T A 15: 28,343,552 (GRCm38) M2366K probably damaging Het
Ermp1 A G 19: 29,612,920 (GRCm38) M794T probably damaging Het
F11 G T 8: 45,250,095 (GRCm38) S186Y probably damaging Het
Fam184b A T 5: 45,532,823 (GRCm38) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,545,423 (GRCm38) T114I possibly damaging Het
Gbp7 A C 3: 142,546,450 (GRCm38) D598A probably benign Het
Gm1110 T A 9: 26,883,230 (GRCm38) D500V probably benign Het
Gm1840 A T 8: 5,639,896 (GRCm38) noncoding transcript Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gm906 G A 13: 50,246,685 (GRCm38) P535L probably benign Het
Ikbip G A 10: 91,093,257 (GRCm38) probably null Het
Kcnb2 C T 1: 15,710,809 (GRCm38) T635M probably benign Het
Krtap29-1 T A 11: 99,978,279 (GRCm38) I259F possibly damaging Het
Lnpep T C 17: 17,570,957 (GRCm38) T442A probably benign Het
Mgat1 T A 11: 49,260,735 (GRCm38) I15N probably damaging Het
Nlrp9c A T 7: 26,385,151 (GRCm38) S334R probably benign Het
Notch2 A T 3: 98,147,296 (GRCm38) D2425V probably damaging Het
Ntn1 C T 11: 68,213,263 (GRCm38) V520M probably damaging Het
Olfr1089 A C 2: 86,733,177 (GRCm38) I145R possibly damaging Het
Olfr1167 A T 2: 88,149,578 (GRCm38) V147E probably damaging Het
Olfr1179 T A 2: 88,402,077 (GRCm38) T286S possibly damaging Het
Olfr149 A G 9: 39,702,253 (GRCm38) V172A probably damaging Het
Olfr803 T A 10: 129,692,018 (GRCm38) T8S probably benign Het
Olfr972 A T 9: 39,873,485 (GRCm38) D70V probably damaging Het
Osr2 A G 15: 35,301,992 (GRCm38) H246R probably damaging Het
Papolg T C 11: 23,879,898 (GRCm38) R224G probably damaging Het
Pax6 T A 2: 105,692,278 (GRCm38) probably null Het
Pcyox1 A G 6: 86,392,268 (GRCm38) V192A probably benign Het
Phf1 C T 17: 26,935,286 (GRCm38) A159V possibly damaging Het
Ppfia4 G A 1: 134,332,391 (GRCm38) R45W probably damaging Het
Psmb9 T A 17: 34,183,679 (GRCm38) K109M probably damaging Het
Ptprt T A 2: 161,927,673 (GRCm38) Y424F probably benign Het
Ptrh2 A G 11: 86,689,766 (GRCm38) I70V probably benign Het
Rnf213 G A 11: 119,418,309 (GRCm38) probably benign Het
Rom1 T A 19: 8,928,004 (GRCm38) I271F probably benign Het
Satb2 T A 1: 56,796,793 (GRCm38) D731V possibly damaging Het
Serpinb7 G T 1: 107,448,129 (GRCm38) G159V possibly damaging Het
Slit1 T C 19: 41,646,140 (GRCm38) I393V probably damaging Het
Spata20 T A 11: 94,483,463 (GRCm38) D327V probably damaging Het
Tbc1d32 G T 10: 56,151,775 (GRCm38) Q744K possibly damaging Het
Thegl A T 5: 77,060,758 (GRCm38) I378L probably benign Het
Tmem108 G T 9: 103,489,240 (GRCm38) N517K possibly damaging Het
Trp63 T A 16: 25,862,461 (GRCm38) N160K probably damaging Het
Ttll5 T C 12: 85,933,611 (GRCm38) S119P probably damaging Het
Ubqln3 T A 7: 104,142,316 (GRCm38) Q189L probably damaging Het
Vwa5a G A 9: 38,737,776 (GRCm38) R638H probably benign Het
Wdr3 A G 3: 100,150,982 (GRCm38) S436P probably damaging Het
Zfp975 A T 7: 42,662,791 (GRCm38) C133S probably damaging Het
Zfp976 A T 7: 42,614,232 (GRCm38) probably benign Het
Zmiz1 A G 14: 25,656,879 (GRCm38) M860V probably damaging Het
Zscan4d T C 7: 11,162,369 (GRCm38) E358G probably benign Het
Other mutations in Hspa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Hspa9 APN 18 34,938,580 (GRCm38) splice site probably benign
IGL01939:Hspa9 APN 18 34,938,708 (GRCm38) missense possibly damaging 0.89
IGL02604:Hspa9 APN 18 34,954,213 (GRCm38) missense unknown
Chiri-san UTSW 18 34,939,423 (GRCm38) missense probably damaging 1.00
R0238:Hspa9 UTSW 18 34,946,646 (GRCm38) nonsense probably null
R0238:Hspa9 UTSW 18 34,946,646 (GRCm38) nonsense probably null
R0278:Hspa9 UTSW 18 34,940,910 (GRCm38) missense possibly damaging 0.50
R0613:Hspa9 UTSW 18 34,947,980 (GRCm38) missense probably damaging 1.00
R1414:Hspa9 UTSW 18 34,938,591 (GRCm38) missense probably damaging 1.00
R1454:Hspa9 UTSW 18 34,938,606 (GRCm38) missense probably damaging 1.00
R2013:Hspa9 UTSW 18 34,946,648 (GRCm38) missense probably damaging 1.00
R2014:Hspa9 UTSW 18 34,946,648 (GRCm38) missense probably damaging 1.00
R2015:Hspa9 UTSW 18 34,946,648 (GRCm38) missense probably damaging 1.00
R2936:Hspa9 UTSW 18 34,948,014 (GRCm38) missense probably damaging 1.00
R4261:Hspa9 UTSW 18 34,939,423 (GRCm38) missense probably damaging 1.00
R4622:Hspa9 UTSW 18 34,949,037 (GRCm38) missense possibly damaging 0.48
R4819:Hspa9 UTSW 18 34,939,388 (GRCm38) missense probably damaging 0.98
R5056:Hspa9 UTSW 18 34,938,681 (GRCm38) missense probably damaging 1.00
R5223:Hspa9 UTSW 18 34,952,671 (GRCm38) splice site probably null
R5666:Hspa9 UTSW 18 34,954,247 (GRCm38) missense probably null
R5820:Hspa9 UTSW 18 34,943,174 (GRCm38) missense possibly damaging 0.82
R5944:Hspa9 UTSW 18 34,949,023 (GRCm38) missense possibly damaging 0.94
R6460:Hspa9 UTSW 18 34,952,712 (GRCm38) missense probably benign
R7404:Hspa9 UTSW 18 34,943,276 (GRCm38) missense possibly damaging 0.76
R7412:Hspa9 UTSW 18 34,949,029 (GRCm38) missense probably damaging 1.00
R7637:Hspa9 UTSW 18 34,938,687 (GRCm38) missense not run
R8524:Hspa9 UTSW 18 34,954,244 (GRCm38) missense unknown
R8830:Hspa9 UTSW 18 34,948,104 (GRCm38) critical splice donor site probably null
R8987:Hspa9 UTSW 18 34,947,929 (GRCm38) missense probably damaging 1.00
R9028:Hspa9 UTSW 18 34,942,031 (GRCm38) missense probably damaging 1.00
R9184:Hspa9 UTSW 18 34,949,115 (GRCm38) missense possibly damaging 0.87
R9709:Hspa9 UTSW 18 34,940,241 (GRCm38) missense possibly damaging 0.62
Z1177:Hspa9 UTSW 18 34,943,145 (GRCm38) missense possibly damaging 0.96
Posted On 2014-05-07