Incidental Mutation 'R2043:Hspa13'
ID 225243
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 040050-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R2043 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 75552078-75564575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75555156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 310 (L310S)
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: L310S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: L310S

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
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A G 8: 25,486,669 (GRCm39) probably null Het
Adnp2 A C 18: 80,171,541 (GRCm39) M956R probably damaging Het
Aldh1l1 T A 6: 90,534,314 (GRCm39) D36E probably benign Het
Ankmy1 T C 1: 92,804,249 (GRCm39) probably benign Het
Apaf1 T C 10: 90,872,890 (GRCm39) D718G probably damaging Het
Ascc3 C T 10: 50,576,616 (GRCm39) P857L probably damaging Het
Atp8b1 T C 18: 64,738,271 (GRCm39) K60R possibly damaging Het
Bub1 A T 2: 127,646,140 (GRCm39) C947S probably damaging Het
Cacna1c C T 6: 118,573,049 (GRCm39) G2017D probably benign Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc110 T C 8: 46,395,864 (GRCm39) M585T probably benign Het
Cep85l A T 10: 53,234,224 (GRCm39) N51K possibly damaging Het
Cftr T C 6: 18,320,934 (GRCm39) F1415L probably benign Het
Cln5 T C 14: 103,313,380 (GRCm39) S211P probably damaging Het
Dcaf5 A T 12: 80,386,991 (GRCm39) D378E probably benign Het
Dhx57 A G 17: 80,560,509 (GRCm39) probably benign Het
Dsn1 G A 2: 156,847,273 (GRCm39) S55L possibly damaging Het
Eif5b T C 1: 38,080,900 (GRCm39) F747S probably damaging Het
Entrep3 A G 3: 89,092,874 (GRCm39) Y251C probably damaging Het
Fbxo25 A G 8: 13,971,905 (GRCm39) I86V probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Glcci1 T A 6: 8,582,590 (GRCm39) I130K probably damaging Het
Gm5424 A G 10: 61,906,990 (GRCm39) noncoding transcript Het
Gsdma G A 11: 98,557,046 (GRCm39) V54M possibly damaging Het
H3c3 A G 13: 23,929,278 (GRCm39) F68S probably damaging Het
Heatr3 T A 8: 88,874,322 (GRCm39) probably benign Het
Il6st A C 13: 112,616,753 (GRCm39) Q100P probably benign Het
Ly6g6e G A 17: 35,296,840 (GRCm39) R27Q possibly damaging Het
Mis18bp1 A T 12: 65,196,192 (GRCm39) I524K probably damaging Het
Myo18a T C 11: 77,714,189 (GRCm39) I761T probably damaging Het
Mypop T C 7: 18,734,944 (GRCm39) probably benign Het
Or51ag1 A G 7: 103,156,150 (GRCm39) M1T probably null Het
Pcdh20 G A 14: 88,704,591 (GRCm39) T903I probably benign Het
Pdk4 A T 6: 5,485,502 (GRCm39) C396S probably benign Het
Piwil2 A G 14: 70,628,919 (GRCm39) V699A probably benign Het
Plekha5 T C 6: 140,498,530 (GRCm39) probably benign Het
Ralgapa1 T A 12: 55,723,811 (GRCm39) I1572L probably damaging Het
Rasgrf2 T A 13: 92,167,351 (GRCm39) M241L possibly damaging Het
Ryr1 C T 7: 28,759,056 (GRCm39) R3374H probably damaging Het
Slc24a2 A T 4: 86,914,882 (GRCm39) M519K probably damaging Het
Smg9 T A 7: 24,105,001 (GRCm39) I67N possibly damaging Het
Spart G A 3: 55,034,969 (GRCm39) A452T probably damaging Het
Ush2a T A 1: 188,648,453 (GRCm39) F4686Y probably benign Het
Zfp146 T C 7: 29,861,664 (GRCm39) K126R possibly damaging Het
Zfp386 T A 12: 116,022,781 (GRCm39) D131E probably benign Het
Zfp423 T C 8: 88,509,246 (GRCm39) D366G probably damaging Het
Zfp729a T C 13: 67,769,291 (GRCm39) K313E probably damaging Het
Zfp955a G A 17: 33,461,527 (GRCm39) H202Y possibly damaging 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25