Incidental Mutation 'IGL03380:Hspa1a'
ID 420649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa1a
Ensembl Gene ENSMUSG00000091971
Gene Name heat shock protein 1A
Synonyms Hsp68, Hsp70a1, Hsp70.3, Hsp70-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03380
Quality Score
Status
Chromosome 17
Chromosomal Location 35188335-35191132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35189253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 550 (K550R)
Ref Sequence ENSEMBL: ENSMUSP00000084586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007248] [ENSMUST00000087328] [ENSMUST00000173680]
AlphaFold Q61696
Predicted Effect probably benign
Transcript: ENSMUST00000007248
SMART Domains Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033

DomainStartEndE-ValueType
Pfam:HSP70 8 614 6.5e-269 PFAM
low complexity region 616 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087328
AA Change: K550R

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
AA Change: K550R

DomainStartEndE-ValueType
Pfam:HSP70 6 612 1.3e-268 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000173680
AA Change: F88L
SMART Domains Protein: ENSMUSP00000133726
Gene: ENSMUSG00000092609
AA Change: F88L

DomainStartEndE-ValueType
low complexity region 8 26 N/A INTRINSIC
low complexity region 36 57 N/A INTRINSIC
low complexity region 65 87 N/A INTRINSIC
internal_repeat_1 91 102 5.9e-5 PROSPERO
internal_repeat_1 113 124 5.9e-5 PROSPERO
low complexity region 134 146 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: At the cellular level, mice homozygous for a knock-out allele exhibit impaired thermotolerance and increased sensitivity to heat stress-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C probably damaging Het
Other mutations in Hspa1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Hspa1a APN 17 35,189,500 (GRCm39) missense probably damaging 1.00
R1983:Hspa1a UTSW 17 35,189,938 (GRCm39) missense probably benign 0.01
R2117:Hspa1a UTSW 17 35,189,455 (GRCm39) missense probably damaging 1.00
R3825:Hspa1a UTSW 17 35,190,703 (GRCm39) missense probably damaging 1.00
R3905:Hspa1a UTSW 17 35,190,703 (GRCm39) missense probably damaging 1.00
R3906:Hspa1a UTSW 17 35,190,703 (GRCm39) missense probably damaging 1.00
R3908:Hspa1a UTSW 17 35,190,703 (GRCm39) missense probably damaging 1.00
R3909:Hspa1a UTSW 17 35,190,703 (GRCm39) missense probably damaging 1.00
R4301:Hspa1a UTSW 17 35,189,482 (GRCm39) missense probably benign 0.11
R4453:Hspa1a UTSW 17 35,189,269 (GRCm39) missense probably benign 0.32
R4610:Hspa1a UTSW 17 35,190,156 (GRCm39) missense probably damaging 0.96
R4904:Hspa1a UTSW 17 35,189,427 (GRCm39) missense probably damaging 1.00
R6253:Hspa1a UTSW 17 35,189,526 (GRCm39) missense probably damaging 1.00
R6366:Hspa1a UTSW 17 35,189,500 (GRCm39) missense probably damaging 1.00
R6478:Hspa1a UTSW 17 35,189,282 (GRCm39) missense probably damaging 1.00
R6981:Hspa1a UTSW 17 35,189,267 (GRCm39) splice site probably null
R8015:Hspa1a UTSW 17 35,189,625 (GRCm39) missense probably damaging 1.00
R8487:Hspa1a UTSW 17 35,191,033 (GRCm39) start gained probably benign
R8944:Hspa1a UTSW 17 35,190,019 (GRCm39) missense probably benign 0.29
R9779:Hspa1a UTSW 17 35,190,778 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02