Incidental Mutation 'IGL03350:Hspa13'
ID419684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa13
Ensembl Gene ENSMUSG00000032932
Gene Nameheat shock protein 70 family, member 13
Synonyms1600002I10Rik, Stch, 60kDa, B230217N24Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.593) question?
Stock #IGL03350
Quality Score
Status
Chromosome16
Chromosomal Location75745431-75767104 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75757829 bp
ZygosityHeterozygous
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]
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

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
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
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Brat1 T C 5: 140,705,995 L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 D342G probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Nfs1 T C 2: 156,127,740 E329G probably benign Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rad23a T C 8: 84,837,479 E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Ribc2 T A 15: 85,135,502 W162R probably damaging Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 T126A probably benign Het
Zpld1 A G 16: 55,241,329 probably benign Het
Zufsp G A 10: 33,928,111 R456C probably benign Het
Other mutations in Hspa13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Hspa13 APN 16 75757992 missense possibly damaging 0.86
R0329:Hspa13 UTSW 16 75765130 missense probably damaging 1.00
R1018:Hspa13 UTSW 16 75761276 missense possibly damaging 0.56
R1029:Hspa13 UTSW 16 75765237 missense probably damaging 1.00
R2043:Hspa13 UTSW 16 75758268 missense probably benign 0.01
R3404:Hspa13 UTSW 16 75758026 nonsense probably null
R3766:Hspa13 UTSW 16 75765086 missense probably benign 0.00
R4596:Hspa13 UTSW 16 75758226 missense probably benign 0.01
R4610:Hspa13 UTSW 16 75761302 missense probably benign 0.02
R4839:Hspa13 UTSW 16 75765281 missense probably damaging 1.00
R5621:Hspa13 UTSW 16 75766763 utr 5 prime probably benign
R5782:Hspa13 UTSW 16 75758097 missense probably damaging 1.00
R6428:Hspa13 UTSW 16 75757986 missense probably damaging 1.00
R6597:Hspa13 UTSW 16 75765197 missense probably damaging 1.00
R6746:Hspa13 UTSW 16 75765037 missense possibly damaging 0.89
R6903:Hspa13 UTSW 16 75757984 missense probably damaging 1.00
Z1088:Hspa13 UTSW 16 75758185 missense probably benign 0.00
Posted On2016-08-02