Incidental Mutation 'R6232:Hspa4'
ID 504696
Institutional Source Beutler Lab
Gene Symbol Hspa4
Ensembl Gene ENSMUSG00000020361
Gene Name heat shock protein 4
Synonyms 70kDa, APG-2, Hsp70RY, Hsp110
MMRRC Submission 044360-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R6232 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 53150641-53191284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53153766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 702 (E702K)
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: E702K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: E702K

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: ENSMUST00000139322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151854
Meta Mutation Damage Score 0.5176 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 94% (64/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,268,933 (GRCm39) V198A possibly damaging Het
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgra2 A T 8: 27,609,193 (GRCm39) M805L probably benign Het
Arhgap39 T C 15: 76,620,712 (GRCm39) S630G probably damaging Het
Bcl3 T A 7: 19,546,409 (GRCm39) N142I probably damaging Het
Cfap210 C T 2: 69,602,398 (GRCm39) E338K possibly damaging Het
Chuk A T 19: 44,085,431 (GRCm39) D238E probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Cyp2j8 A T 4: 96,395,427 (GRCm39) L66Q possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dst T A 1: 34,227,253 (GRCm39) D1290E probably damaging Het
Dysf T C 6: 84,075,235 (GRCm39) I583T probably benign Het
Eif1ad13 A T 12: 87,762,351 (GRCm39) R24* probably null Het
Fbxl2 T A 9: 113,815,516 (GRCm39) D249V probably damaging Het
Fbxo30 A T 10: 11,165,602 (GRCm39) Y108F possibly damaging Het
Fibin G T 2: 110,193,041 (GRCm39) H34N probably damaging Het
Gabrr1 A G 4: 33,161,632 (GRCm39) I319V probably benign Het
Gfm1 G T 3: 67,375,215 (GRCm39) L559F possibly damaging Het
Gm5134 T A 10: 75,821,859 (GRCm39) L231Q possibly damaging Het
Grm5 A G 7: 87,251,638 (GRCm39) probably benign Het
Hbs1l T A 10: 21,183,657 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Inpp4b A G 8: 82,678,813 (GRCm39) Q281R probably damaging Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Ldlrap1 C T 4: 134,486,345 (GRCm39) R38Q possibly damaging Het
Lepr A G 4: 101,671,588 (GRCm39) probably null Het
Map3k12 A G 15: 102,412,081 (GRCm39) S328P probably damaging Het
Mrpl2 T C 17: 46,958,356 (GRCm39) V46A probably benign Het
Muc16 A T 9: 18,568,294 (GRCm39) N1408K unknown Het
Myh7 T A 14: 55,226,753 (GRCm39) Q366L probably benign Het
Nbeal2 A G 9: 110,467,802 (GRCm39) V462A probably damaging Het
Nradd G T 9: 110,450,655 (GRCm39) T174N probably damaging Het
Nup155 T C 15: 8,138,963 (GRCm39) S12P probably benign Het
Obscn C A 11: 58,943,337 (GRCm39) E4832* probably null Het
Opn3 G A 1: 175,490,669 (GRCm39) R331W probably damaging Het
Or2ag15 A T 7: 106,340,761 (GRCm39) C127S probably damaging Het
Or2w3 T A 11: 58,556,757 (GRCm39) V124E possibly damaging Het
Or4a66 G T 2: 88,531,161 (GRCm39) H171N probably benign Het
Or52ae9 T A 7: 103,389,661 (GRCm39) H262L probably damaging Het
Or5b120 G A 19: 13,480,427 (GRCm39) C240Y probably damaging Het
Or6b2 T C 1: 92,408,305 (GRCm39) I13V probably benign Het
Phip A G 9: 82,785,234 (GRCm39) V827A probably benign Het
Phldb1 G A 9: 44,607,414 (GRCm39) R1264W probably damaging Het
Pibf1 T G 14: 99,424,014 (GRCm39) I529S probably benign Het
Pkp1 T A 1: 135,814,599 (GRCm39) I241F probably benign Het
Pla2g4f G T 2: 120,132,702 (GRCm39) D711E possibly damaging Het
Pold1 A G 7: 44,190,266 (GRCm39) probably null Het
Pold2 T C 11: 5,823,691 (GRCm39) S287G probably benign Het
Prg4 T C 1: 150,331,567 (GRCm39) probably benign Het
Prl8a1 T C 13: 27,759,557 (GRCm39) E160G possibly damaging Het
Rfc4 C T 16: 22,932,840 (GRCm39) probably benign Het
Robo3 T G 9: 37,332,225 (GRCm39) Y891S probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph14 G A 10: 74,797,520 (GRCm39) R156W probably benign Het
Sec61a1 T C 6: 88,482,150 (GRCm39) Y457C probably benign Het
Sec63 T A 10: 42,704,861 (GRCm39) probably null Het
Spen T C 4: 141,244,333 (GRCm39) E234G unknown Het
Sphkap T A 1: 83,258,200 (GRCm39) E181V probably damaging Het
Stau2 C T 1: 16,445,035 (GRCm39) A298T probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbc1d23 T C 16: 56,990,796 (GRCm39) I661V probably benign Het
Thoc6 A C 17: 23,889,295 (GRCm39) probably null Het
Trpv1 T A 11: 73,141,636 (GRCm39) M553K possibly damaging Het
Ttn T C 2: 76,641,579 (GRCm39) I11760V probably benign Het
Vmn1r61 G A 7: 5,613,850 (GRCm39) H155Y probably damaging Het
Vmn2r41 A G 7: 8,153,214 (GRCm39) probably null Het
Vmn2r74 A G 7: 85,607,498 (GRCm39) I75T possibly damaging Het
Wwp2 C A 8: 108,232,977 (GRCm39) T205K probably benign Het
Zfp1003 A T 2: 177,546,195 (GRCm39) T40S probably benign Het
Zfp747 C T 7: 126,973,306 (GRCm39) G288D probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Zfp953 G A 13: 67,491,161 (GRCm39) L264F possibly 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
IGL00957:Hspa4 APN 11 53,171,514 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGATGAGCAACTCCCTACC -3'
(R):5'- TGTGCGCATACACATACCC -3'

Sequencing Primer
(F):5'- GGACTTCTGTGAGTTCAAAGACACC -3'
(R):5'- GCATACACATACCCAGAGAGTG -3'
Posted On 2018-02-28