Incidental Mutation 'IGL03350:Hspa13'
ID 419684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa13
Ensembl Gene ENSMUSG00000032932
Gene Name heat shock protein 70 family, member 13
Synonyms Stch, B230217N24Rik, 60kDa, 1600002I10Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # IGL03350
Quality Score
Chromosome 16
Chromosomal Location 75552078-75564575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75554717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 456 (S456R)
Ref Sequence ENSEMBL: ENSMUSP00000048817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046283] [ENSMUST00000114244] [ENSMUST00000232633]
AlphaFold Q8BM72
Predicted Effect probably damaging
Transcript: ENSMUST00000046283
AA Change: S456R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: S456R

signal peptide 1 22 N/A INTRINSIC
Pfam:HSP70 33 347 3.4e-79 PFAM
Pfam:HSP70 349 460 5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114244
SMART Domains Protein: ENSMUSP00000109882
Gene: ENSMUSG00000032932

signal peptide 1 22 N/A INTRINSIC
Pfam:HSP70 33 260 1.2e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137806
Predicted Effect probably benign
Transcript: ENSMUST00000232633
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,589 (GRCm39) Y300* probably null Het
Adgre1 T A 17: 57,708,908 (GRCm39) V33E probably benign Het
AI987944 A G 7: 41,042,661 (GRCm39) probably benign Het
Atp4a T C 7: 30,420,292 (GRCm39) L813P probably damaging Het
Blmh A G 11: 76,862,774 (GRCm39) N396D probably damaging Het
Brat1 T C 5: 140,691,750 (GRCm39) L9P probably damaging Het
Ccdc171 T C 4: 83,599,615 (GRCm39) I810T possibly damaging Het
Clec2m C A 6: 129,307,986 (GRCm39) V28L probably benign Het
Cyp2a22 T C 7: 26,634,279 (GRCm39) T292A possibly damaging Het
Ecm2 C T 13: 49,674,420 (GRCm39) T280I probably benign Het
Fa2h C T 8: 112,075,928 (GRCm39) V232I probably benign Het
Fbxw24 T C 9: 109,436,081 (GRCm39) D317G probably damaging Het
Flt4 C A 11: 49,525,620 (GRCm39) S722* probably null Het
Fryl T C 5: 73,290,649 (GRCm39) Q85R probably damaging Het
Gm3239 A G 14: 15,882,083 (GRCm39) R188G possibly damaging Het
Htr1b T C 9: 81,514,175 (GRCm39) Y144C probably damaging Het
Hydin A G 8: 111,038,856 (GRCm39) H198R possibly damaging Het
Krt78 A T 15: 101,854,952 (GRCm39) M953K probably benign Het
Lgr5 G T 10: 115,307,893 (GRCm39) T255K probably damaging Het
Lrp2 T A 2: 69,268,797 (GRCm39) D4162V probably damaging Het
Map3k2 A G 18: 32,345,201 (GRCm39) D342G probably damaging Het
Miip A G 4: 147,946,979 (GRCm39) V258A probably benign Het
Muc6 T C 7: 141,238,324 (GRCm39) H52R probably damaging Het
Nfs1 T C 2: 155,969,660 (GRCm39) E329G probably benign Het
Npsr1 T C 9: 24,009,605 (GRCm39) V37A probably benign Het
Or1ak2 T C 2: 36,827,595 (GRCm39) Y155H probably damaging Het
Or1e17 A T 11: 73,831,664 (GRCm39) L197F probably damaging Het
Or5aq1b A C 2: 86,901,904 (GRCm39) D191E probably damaging Het
Pex16 T A 2: 92,207,842 (GRCm39) M98K probably damaging Het
Pla2r1 C T 2: 60,285,517 (GRCm39) C699Y probably damaging Het
Plcd4 A T 1: 74,588,460 (GRCm39) D103V probably damaging Het
Pnpla1 A G 17: 29,095,966 (GRCm39) D129G probably damaging Het
Rad23a T C 8: 85,564,108 (GRCm39) E265G possibly damaging Het
Rbm11 C T 16: 75,397,696 (GRCm39) P209S probably benign Het
Ribc2 T A 15: 85,019,703 (GRCm39) W162R probably damaging Het
Rnf4 A G 5: 34,504,204 (GRCm39) E32G possibly damaging Het
Rpe65 A T 3: 159,320,154 (GRCm39) S269C possibly damaging Het
Slc7a14 T A 3: 31,291,558 (GRCm39) Y240F probably benign Het
Sorbs2 C T 8: 46,258,844 (GRCm39) P1047L probably damaging Het
Ttn T C 2: 76,580,166 (GRCm39) I23576V probably damaging Het
Usp24 T G 4: 106,228,276 (GRCm39) Y780* probably null Het
Wee2 T C 6: 40,426,665 (GRCm39) S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 (GRCm39) T126A probably benign Het
Zpld1 A G 16: 55,061,692 (GRCm39) probably benign Het
Zup1 G A 10: 33,804,107 (GRCm39) R456C probably benign Het
Other mutations in Hspa13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Hspa13 APN 16 75,554,880 (GRCm39) missense possibly damaging 0.86
R0329:Hspa13 UTSW 16 75,562,018 (GRCm39) missense probably damaging 1.00
R1018:Hspa13 UTSW 16 75,558,164 (GRCm39) missense possibly damaging 0.56
R1029:Hspa13 UTSW 16 75,562,125 (GRCm39) missense probably damaging 1.00
R2043:Hspa13 UTSW 16 75,555,156 (GRCm39) missense probably benign 0.01
R3404:Hspa13 UTSW 16 75,554,914 (GRCm39) nonsense probably null
R3766:Hspa13 UTSW 16 75,561,974 (GRCm39) missense probably benign 0.00
R4596:Hspa13 UTSW 16 75,555,114 (GRCm39) missense probably benign 0.01
R4610:Hspa13 UTSW 16 75,558,190 (GRCm39) missense probably benign 0.02
R4839:Hspa13 UTSW 16 75,562,169 (GRCm39) missense probably damaging 1.00
R5621:Hspa13 UTSW 16 75,563,651 (GRCm39) utr 5 prime probably benign
R5782:Hspa13 UTSW 16 75,554,985 (GRCm39) missense probably damaging 1.00
R6428:Hspa13 UTSW 16 75,554,874 (GRCm39) missense probably damaging 1.00
R6597:Hspa13 UTSW 16 75,562,085 (GRCm39) missense probably damaging 1.00
R6746:Hspa13 UTSW 16 75,561,925 (GRCm39) missense possibly damaging 0.89
R6903:Hspa13 UTSW 16 75,554,872 (GRCm39) missense probably damaging 1.00
Z1088:Hspa13 UTSW 16 75,555,073 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02