Incidental Mutation 'R4596:Hspa13'
ID 344409
Institutional Source Beutler Lab
Gene Symbol Hspa13
Ensembl Gene ENSMUSG00000032932
Gene Name heat shock protein 70 family, member 13
Synonyms Stch, B230217N24Rik, 60kDa, 1600002I10Rik
MMRRC Submission 041812-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R4596 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 75552078-75564575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75555114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 324 (G324D)
Ref Sequence ENSEMBL: ENSMUSP00000048817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046283] [ENSMUST00000114244] [ENSMUST00000232633]
AlphaFold Q8BM72
Predicted Effect probably benign
Transcript: ENSMUST00000046283
AA Change: G324D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: G324D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,088 (GRCm39) K429E probably benign Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adad1 T C 3: 37,119,341 (GRCm39) S141P probably damaging Het
Anapc4 T C 5: 52,999,060 (GRCm39) V124A probably benign Het
Anxa6 G T 11: 54,885,409 (GRCm39) probably null Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arhgef40 T C 14: 52,224,681 (GRCm39) probably null Het
Asz1 A T 6: 18,103,592 (GRCm39) I116K possibly damaging Het
Bcam T C 7: 19,498,082 (GRCm39) N314D probably damaging Het
Cfi T C 3: 129,662,149 (GRCm39) V376A probably damaging Het
Cipc A G 12: 87,008,728 (GRCm39) T196A probably benign Het
Cnksr1 A G 4: 133,961,189 (GRCm39) V225A possibly damaging Het
Col4a4 G A 1: 82,448,940 (GRCm39) P1217S unknown Het
Dync2h1 C T 9: 6,992,595 (GRCm39) D3996N probably benign Het
Fasl T C 1: 161,615,838 (GRCm39) N6S probably benign Het
Fhod3 A T 18: 25,248,775 (GRCm39) Q1318L probably benign Het
Gmps G T 3: 63,901,338 (GRCm39) E386* probably null Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Itgb1bp1 C A 12: 21,322,135 (GRCm39) L101F probably damaging Het
Jak3 T A 8: 72,137,275 (GRCm39) S779T probably damaging Het
Klhl21 G T 4: 152,096,997 (GRCm39) R421L probably benign Het
Mgat4c T C 10: 102,224,422 (GRCm39) F212S probably damaging Het
Msl3l2 T A 10: 55,991,741 (GRCm39) F155L probably benign Het
Nfat5 A G 8: 108,078,132 (GRCm39) K406E possibly damaging Het
Nsd2 A T 5: 34,040,262 (GRCm39) H933L probably damaging Het
Or4c31 A G 2: 88,292,538 (GRCm39) T304A probably benign Het
Or51h5 A G 7: 102,577,458 (GRCm39) T208A possibly damaging Het
Or6f1 A T 7: 85,970,631 (GRCm39) H176Q probably damaging Het
Or9q2 G A 19: 13,772,264 (GRCm39) T237I probably damaging Het
Paxbp1 T C 16: 90,827,435 (GRCm39) I467V probably benign Het
Pcdha8 A C 18: 37,126,611 (GRCm39) Q364H possibly damaging Het
Prr14l T C 5: 32,986,652 (GRCm39) T948A probably benign Het
Ptgfr A T 3: 151,507,430 (GRCm39) V311D probably damaging Het
Ptpn13 A G 5: 103,671,558 (GRCm39) Y495C probably benign Het
Sec61g A T 11: 16,458,127 (GRCm39) S23T probably benign Het
Sema3a G T 5: 13,620,125 (GRCm39) V458F probably damaging Het
Slc16a14 T A 1: 84,907,078 (GRCm39) E65D probably damaging Het
Slc35f6 T C 5: 30,805,406 (GRCm39) M14T probably damaging Het
Slc4a10 A T 2: 62,127,202 (GRCm39) I882F probably damaging Het
Sox17 C A 1: 4,562,860 (GRCm39) E48D possibly damaging Het
Thbs1 A T 2: 117,945,236 (GRCm39) I270F possibly damaging Het
Tia1 A G 6: 86,397,389 (GRCm39) I121V probably benign Het
Trim30d A T 7: 104,121,733 (GRCm39) H337Q probably benign Het
Tvp23b G A 11: 62,774,544 (GRCm39) A63T probably benign Het
U2surp C T 9: 95,367,681 (GRCm39) V437I probably damaging Het
Ube2i T C 17: 25,484,298 (GRCm39) probably benign Het
Vmn1r62 A G 7: 5,678,306 (GRCm39) probably benign Het
Wdr3 G A 3: 100,060,183 (GRCm39) S310F possibly damaging Het
Wdr72 A T 9: 74,058,887 (GRCm39) M327L probably benign Het
Other mutations in Hspa13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Hspa13 APN 16 75,554,880 (GRCm39) missense possibly damaging 0.86
IGL03350:Hspa13 APN 16 75,554,717 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTTGCTGAATGGGTACGAG -3'
(R):5'- TTGGAGGACAAGACTTCAATCAG -3'

Sequencing Primer
(F):5'- ATGGGTACGAGTATTTTCTGAAAGAG -3'
(R):5'- TCAATCAGAGGCTGCTTCAG -3'
Posted On 2015-09-25