Incidental Mutation 'IGL01939:Hspa9'
ID 180775
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
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL01939
Quality Score
Status
Chromosome 18
Chromosomal Location 34937414-34954357 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34938708 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 613 (E613G)
Ref Sequence ENSEMBL: ENSMUSP00000025217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025217]
AlphaFold P38647
Predicted Effect possibly damaging
Transcript: ENSMUST00000025217
AA Change: E613G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: E613G

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: ENSMUST00000158614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173701
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,992,132 D22Y probably damaging Het
Ak7 T C 12: 105,734,924 V242A probably benign Het
Cacna1b T C 2: 24,661,757 N1127S probably damaging Het
Cacnb2 A T 2: 14,971,569 H267L probably benign Het
Ces1b C T 8: 93,079,431 G61R probably damaging Het
Cgnl1 T A 9: 71,725,004 D355V probably damaging Het
Col24a1 T C 3: 145,315,244 S459P probably damaging Het
Crygd T C 1: 65,062,026 T137A probably benign Het
Dctn4 T A 18: 60,544,130 M174K probably benign Het
Evi5 A G 5: 107,816,924 probably benign Het
Fat2 T G 11: 55,283,980 D1969A probably benign Het
Fcrl5 A T 3: 87,446,299 E317V probably damaging Het
Foxf2 G T 13: 31,626,714 S212I probably damaging Het
Gm21759 T A 5: 8,180,685 probably benign Het
Gm5414 A G 15: 101,625,670 probably benign Het
Gm7275 T C 16: 48,073,583 noncoding transcript Het
Il1rl1 A G 1: 40,462,008 I515V possibly damaging Het
Ins1 G T 19: 52,264,735 A38S probably damaging Het
Klhl31 A G 9: 77,655,206 N418D probably benign Het
Magi3 T C 3: 104,054,462 K417E probably damaging Het
Msh4 A G 3: 153,857,589 Y823H probably damaging Het
Myo6 T A 9: 80,260,818 D421E probably damaging Het
Myom3 T C 4: 135,765,589 S150P possibly damaging Het
Nectin1 C T 9: 43,792,574 probably benign Het
Nkx1-2 A T 7: 132,599,474 I18N probably damaging Het
Olfr1006 T C 2: 85,674,941 D70G probably damaging Het
Olfr1193 A G 2: 88,678,733 T286A probably damaging Het
Olfr1467 A T 19: 13,365,443 I272F probably benign Het
Olfr952 A C 9: 39,426,338 H244Q probably damaging Het
Pde8b T C 13: 95,095,724 R237G probably damaging Het
Pp2d1 G A 17: 53,515,139 L300F probably damaging Het
Ptpn21 A T 12: 98,689,161 Y516N probably damaging Het
Ptprm T A 17: 67,063,163 probably benign Het
Rabggtb A G 3: 153,912,013 V16A probably damaging Het
Rangap1 A T 15: 81,720,663 C82S probably damaging Het
Rasal2 T C 1: 157,175,910 E393G probably damaging Het
Rasgrf1 A T 9: 89,974,836 E449V probably damaging Het
Rrp12 A T 19: 41,870,895 H1143Q probably damaging Het
Scap T C 9: 110,379,481 I530T probably benign Het
Sel1l T A 12: 91,816,247 Q482L probably damaging Het
Serpinb9b T C 13: 33,039,665 M280T probably damaging Het
Slc39a10 T A 1: 46,832,735 H348L probably benign Het
Slc7a2 T C 8: 40,914,083 L542P possibly damaging Het
Tas1r2 A T 4: 139,669,177 Q609L probably damaging Het
Tbc1d14 A T 5: 36,508,437 probably benign Het
Tfb2m A G 1: 179,537,697 probably null Het
Tpo T C 12: 30,084,647 T771A possibly damaging Het
Tpr G A 1: 150,413,745 R609H possibly damaging Het
Usp34 T A 11: 23,345,141 probably benign Het
Vmn1r193 G T 13: 22,219,723 S33* probably null Het
Vmn2r104 A C 17: 20,029,925 S695A probably damaging Het
Vmn2r24 A G 6: 123,787,445 D427G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp362 A G 4: 128,787,053 S160P probably benign Het
Other mutations in Hspa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Hspa9 APN 18 34938580 splice site probably benign
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
R5666:Hspa9 UTSW 18 34954247 missense 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
Posted On 2014-05-07