Incidental Mutation 'R6597:Hspa13'
ID 524985
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 044721-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R6597 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 75552078-75564575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75562085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 38 (L38Q)
Ref Sequence ENSEMBL: ENSMUSP00000156320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046283] [ENSMUST00000114244] [ENSMUST00000232633]
AlphaFold Q8BM72
Predicted Effect probably damaging
Transcript: ENSMUST00000046283
AA Change: L38Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: L38Q

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 damaging
Transcript: ENSMUST00000114244
AA Change: L38Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109882
Gene: ENSMUSG00000032932
AA Change: L38Q

signal peptide 1 22 N/A INTRINSIC
Pfam:HSP70 33 260 1.2e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174952
Predicted Effect probably damaging
Transcript: ENSMUST00000232633
AA Change: L38Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (50/50)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,625,080 (GRCm39) Y486C probably damaging Het
Asb17 A T 3: 153,550,321 (GRCm39) T118S probably damaging Het
Atl2 T A 17: 80,160,195 (GRCm39) D293V possibly damaging Het
Bbs1 T A 19: 4,949,334 (GRCm39) M242L probably benign Het
Btg1 T A 10: 96,454,182 (GRCm39) S65T probably damaging Het
Cfap54 T C 10: 92,834,902 (GRCm39) D1101G possibly damaging Het
Cmpk2 G T 12: 26,524,144 (GRCm39) V314L possibly damaging Het
Fbxl8 A C 8: 105,995,523 (GRCm39) D345A probably benign Het
Gys2 T A 6: 142,402,035 (GRCm39) H268L probably benign Het
Hecw1 T A 13: 14,491,403 (GRCm39) R117* probably null Het
Hoxd10 G A 2: 74,522,984 (GRCm39) A221T probably benign Het
Inava G T 1: 136,153,927 (GRCm39) A87E probably damaging Het
Ipo11 A G 13: 107,002,371 (GRCm39) probably null Het
Itgb8 A G 12: 119,137,133 (GRCm39) V390A possibly damaging Het
Kalrn T A 16: 34,003,117 (GRCm39) I1370F probably damaging Het
Macf1 T C 4: 123,276,485 (GRCm39) N6086S probably damaging Het
Ms4a13 T C 19: 11,170,303 (GRCm39) T14A probably benign Het
Or11g26 T A 14: 50,753,008 (GRCm39) C116S probably benign Het
Or55b10 A T 7: 102,143,628 (GRCm39) I118N probably damaging Het
Or5ac22 C T 16: 59,135,713 (GRCm39) R19H probably benign Het
Or5d37 A G 2: 87,923,413 (GRCm39) F289S probably damaging Het
Or8b47 A T 9: 38,435,300 (GRCm39) I91F probably benign Het
Or9q1 T A 19: 13,805,821 (GRCm39) probably benign Het
Patl2 T A 2: 122,016,645 (GRCm39) probably benign Het
Pcdhga7 T C 18: 37,850,059 (GRCm39) S689P probably benign Het
Pitpnc1 G T 11: 107,117,058 (GRCm39) Y227* probably null Het
Pla2g2e T C 4: 138,607,984 (GRCm39) V22A unknown Het
Ppil1 C A 17: 29,480,852 (GRCm39) V24F probably benign Het
Prl3b1 G A 13: 27,431,957 (GRCm39) probably null Het
Rabgef1 G A 5: 130,219,885 (GRCm39) probably null Het
Rhot2 A T 17: 26,059,886 (GRCm39) W341R probably damaging Het
Rps6kc1 A T 1: 190,482,381 (GRCm39) W286R probably benign Het
Rrs1 A G 1: 9,616,601 (GRCm39) T285A probably damaging Het
Shc3 T A 13: 51,597,009 (GRCm39) D338V possibly damaging Het
Siglech A T 7: 55,418,211 (GRCm39) M60L probably benign Het
Slc12a6 G T 2: 112,183,280 (GRCm39) V756F probably damaging Het
Slc43a2 G A 11: 75,462,681 (GRCm39) G507D probably damaging Het
Slf1 A G 13: 77,197,248 (GRCm39) S789P probably benign Het
Spata31d1d C A 13: 59,873,871 (GRCm39) M1221I probably benign Het
Srgap1 T C 10: 121,628,276 (GRCm39) N899D probably benign Het
Stag1 G A 9: 100,769,473 (GRCm39) M529I probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tmppe A T 9: 114,234,312 (GRCm39) M204L probably benign Het
Tpsg1 G A 17: 25,588,271 (GRCm39) probably benign Het
Ttn A G 2: 76,628,315 (GRCm39) V6288A probably benign Het
Ttn A T 2: 76,723,444 (GRCm39) probably benign Het
Twsg1 C A 17: 66,244,799 (GRCm39) V73F probably damaging Het
Vmn2r102 A G 17: 19,914,450 (GRCm39) T672A probably damaging Het
Vps36 A G 8: 22,692,320 (GRCm39) I66V probably benign Het
Xrcc4 A T 13: 90,149,048 (GRCm39) D157E probably benign Het
Zbbx T A 3: 75,043,761 (GRCm39) Q162L probably damaging Het
Zfp560 T A 9: 20,259,297 (GRCm39) I522L probably benign Het
Zscan20 T C 4: 128,479,539 (GRCm39) N984S probably 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
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
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 2018-06-22