Incidental Mutation 'IGL00957:Hspa4'
ID 28591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa4
Ensembl Gene ENSMUSG00000020361
Gene Name heat shock protein 4
Synonyms 70kDa, APG-2, Hsp70RY, Hsp110
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # IGL00957
Quality Score
Status
Chromosome 11
Chromosomal Location 53150641-53191284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53171514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 230 (T230I)
Ref Sequence ENSEMBL: ENSMUSP00000020630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020630]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020630
AA Change: T230I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: T230I

DomainStartEndE-ValueType
Pfam:HSP70 3 608 2.9e-211 PFAM
Pfam:HSP70 590 693 3.8e-10 PFAM
low complexity region 787 800 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151854
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit age-dependent neurofibrillary tangles and tau deposits, impaired contextual conditioning, and impaired bar grasping. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T A 1: 63,573,470 (GRCm39) I246N probably benign Het
Adora1 A G 1: 134,130,951 (GRCm39) L240P probably damaging Het
Ago4 C T 4: 126,410,926 (GRCm39) V188I probably benign Het
Ccdc138 T A 10: 58,364,838 (GRCm39) probably benign Het
Cpeb4 A G 11: 31,823,204 (GRCm39) Y306C probably damaging Het
Ctsz T C 2: 174,269,771 (GRCm39) E272G probably damaging Het
Dst G A 1: 34,267,488 (GRCm39) V5155I probably benign Het
Fabp12 C T 3: 10,315,273 (GRCm39) probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hpcal1 G A 12: 17,837,591 (GRCm39) E142K probably benign Het
Htt T C 5: 34,964,068 (GRCm39) V387A probably benign Het
Loxl3 A G 6: 83,025,747 (GRCm39) probably benign Het
Lrrc30 G A 17: 67,939,499 (GRCm39) S27L probably benign Het
Mtpn A G 6: 35,516,547 (GRCm39) probably benign Het
Mug2 A G 6: 122,017,613 (GRCm39) Y450C probably damaging Het
Ncl A G 1: 86,284,091 (GRCm39) probably null Het
Or8k23 A T 2: 86,186,477 (GRCm39) V83E possibly damaging Het
Psmd3 T A 11: 98,576,394 (GRCm39) S99T probably benign Het
Rb1cc1 G A 1: 6,319,763 (GRCm39) A1061T probably damaging Het
Rhbdd1 T C 1: 82,318,362 (GRCm39) Y82H probably damaging Het
Slc5a6 T C 5: 31,196,279 (GRCm39) probably benign Het
Sox6 T C 7: 115,376,327 (GRCm39) K135R probably damaging Het
Tasor2 T A 13: 3,627,101 (GRCm39) I950F possibly damaging Het
Tbx21 A G 11: 96,989,920 (GRCm39) V424A probably benign Het
Trpa1 A T 1: 14,951,892 (GRCm39) Y936N probably damaging Het
Ttn G T 2: 76,569,280 (GRCm39) D25458E probably damaging Het
Zfp629 C T 7: 127,211,896 (GRCm39) V6M probably damaging Het
Other mutations in Hspa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Hspa4 APN 11 53,171,544 (GRCm39) splice site probably null
IGL00701:Hspa4 APN 11 53,161,860 (GRCm39) missense possibly damaging 0.89
IGL02324:Hspa4 APN 11 53,190,885 (GRCm39) critical splice donor site probably null
IGL02328:Hspa4 APN 11 53,190,885 (GRCm39) critical splice donor site probably null
IGL02336:Hspa4 APN 11 53,153,200 (GRCm39) missense probably benign 0.00
IGL02441:Hspa4 APN 11 53,161,809 (GRCm39) missense probably benign 0.03
IGL03323:Hspa4 APN 11 53,155,960 (GRCm39) missense probably benign 0.05
IGL03356:Hspa4 APN 11 53,160,627 (GRCm39) missense probably damaging 1.00
R0027:Hspa4 UTSW 11 53,174,412 (GRCm39) missense probably benign 0.00
R0398:Hspa4 UTSW 11 53,163,706 (GRCm39) critical splice acceptor site probably null
R0568:Hspa4 UTSW 11 53,153,703 (GRCm39) splice site probably benign
R0655:Hspa4 UTSW 11 53,160,519 (GRCm39) missense probably benign 0.02
R1876:Hspa4 UTSW 11 53,174,983 (GRCm39) missense probably benign 0.16
R2225:Hspa4 UTSW 11 53,177,760 (GRCm39) missense probably benign 0.28
R3813:Hspa4 UTSW 11 53,161,806 (GRCm39) missense probably benign 0.21
R3937:Hspa4 UTSW 11 53,161,776 (GRCm39) missense probably benign 0.13
R4360:Hspa4 UTSW 11 53,155,919 (GRCm39) missense probably damaging 1.00
R4457:Hspa4 UTSW 11 53,171,395 (GRCm39) missense probably damaging 1.00
R4492:Hspa4 UTSW 11 53,171,296 (GRCm39) missense probably damaging 1.00
R4751:Hspa4 UTSW 11 53,175,026 (GRCm39) missense probably benign 0.22
R5032:Hspa4 UTSW 11 53,179,950 (GRCm39) missense possibly damaging 0.89
R5233:Hspa4 UTSW 11 53,177,802 (GRCm39) missense possibly damaging 0.46
R5320:Hspa4 UTSW 11 53,153,810 (GRCm39) missense probably damaging 1.00
R5650:Hspa4 UTSW 11 53,155,919 (GRCm39) missense probably damaging 1.00
R6108:Hspa4 UTSW 11 53,152,539 (GRCm39) missense probably damaging 0.97
R6211:Hspa4 UTSW 11 53,153,766 (GRCm39) missense probably benign 0.06
R6232:Hspa4 UTSW 11 53,153,766 (GRCm39) missense probably benign 0.06
R6234:Hspa4 UTSW 11 53,153,766 (GRCm39) missense probably benign 0.06
R6235:Hspa4 UTSW 11 53,153,766 (GRCm39) missense probably benign 0.06
R6243:Hspa4 UTSW 11 53,153,766 (GRCm39) missense probably benign 0.06
R6245:Hspa4 UTSW 11 53,153,766 (GRCm39) missense probably benign 0.06
R6468:Hspa4 UTSW 11 53,155,883 (GRCm39) missense probably benign 0.03
R7194:Hspa4 UTSW 11 53,156,765 (GRCm39) missense probably damaging 1.00
R7308:Hspa4 UTSW 11 53,157,930 (GRCm39) missense possibly damaging 0.70
R7654:Hspa4 UTSW 11 53,190,951 (GRCm39) missense probably damaging 0.98
R7731:Hspa4 UTSW 11 53,157,791 (GRCm39) critical splice donor site probably null
R7813:Hspa4 UTSW 11 53,162,863 (GRCm39) missense probably damaging 1.00
R7841:Hspa4 UTSW 11 53,157,887 (GRCm39) missense possibly damaging 0.95
R7849:Hspa4 UTSW 11 53,171,530 (GRCm39) missense possibly damaging 0.88
R7913:Hspa4 UTSW 11 53,153,134 (GRCm39) missense probably benign 0.01
R7980:Hspa4 UTSW 11 53,171,404 (GRCm39) missense probably benign 0.22
R8679:Hspa4 UTSW 11 53,160,691 (GRCm39) missense probably damaging 0.98
R9012:Hspa4 UTSW 11 53,159,402 (GRCm39) missense probably benign 0.14
R9129:Hspa4 UTSW 11 53,174,463 (GRCm39) nonsense probably null
R9230:Hspa4 UTSW 11 53,171,466 (GRCm39) missense probably benign 0.22
R9631:Hspa4 UTSW 11 53,160,582 (GRCm39) missense possibly damaging 0.68
Posted On 2013-04-17