Incidental Mutation 'R6108:Hspa4'
ID 485620
Institutional Source Beutler Lab
Gene Symbol Hspa4
Ensembl Gene ENSMUSG00000020361
Gene Name heat shock protein 4
Synonyms 70kDa, APG-2, Hsp70RY, Hsp110
MMRRC Submission 044258-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R6108 (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 53152539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 810 (G810D)
Ref Sequence ENSEMBL: ENSMUSP00000020630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020630]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020630
AA Change: G810D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: G810D

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,539,814 (GRCm39) F5702L probably damaging Het
Aptx G A 4: 40,694,986 (GRCm39) Q117* probably null Het
Axin1 T A 17: 26,362,214 (GRCm39) M186K probably damaging Het
Btbd2 A T 10: 80,481,365 (GRCm39) L249Q probably damaging Het
Caprin1 C T 2: 103,606,362 (GRCm39) V293I possibly damaging Het
Ccdc136 C A 6: 29,412,449 (GRCm39) H334Q probably benign Het
Ccdc180 A G 4: 45,911,389 (GRCm39) N568S possibly damaging Het
Cenpf A T 1: 189,394,210 (GRCm39) F515L probably benign Het
Chrm2 T A 6: 36,500,230 (GRCm39) V29E probably damaging Het
Cnot1 A G 8: 96,457,048 (GRCm39) L1956P probably damaging Het
Cyp2d22 T C 15: 82,256,106 (GRCm39) K176R possibly damaging Het
Dnah7a A T 1: 53,496,004 (GRCm39) I3151N probably damaging Het
Dsg1a T A 18: 20,473,304 (GRCm39) D792E probably benign Het
Fam167b A T 4: 129,472,101 (GRCm39) L23* probably null Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Gfm2 A G 13: 97,285,930 (GRCm39) I140V possibly damaging Het
Gna14 A G 19: 16,580,707 (GRCm39) T182A probably damaging Het
Hmcn1 A G 1: 150,506,978 (GRCm39) V3738A possibly damaging Het
Igf2bp3 A G 6: 49,094,308 (GRCm39) I154T probably damaging Het
Il1rap G A 16: 26,541,457 (GRCm39) S566N probably damaging Het
Kcnb1 G A 2: 166,947,060 (GRCm39) T596M probably damaging Het
Kcnn1 A C 8: 71,307,800 (GRCm39) S81A probably benign Het
Lmod1 G A 1: 135,291,849 (GRCm39) G235R probably benign Het
Mei1 A T 15: 81,959,389 (GRCm39) R185S possibly damaging Het
Mmrn1 G A 6: 60,952,960 (GRCm39) V414M possibly damaging Het
Mon2 C A 10: 122,868,600 (GRCm39) M484I probably benign Het
Nae1 A T 8: 105,254,034 (GRCm39) D99E probably benign Het
Nsun7 T A 5: 66,453,142 (GRCm39) I619N probably damaging Het
Nudt12 C A 17: 59,314,744 (GRCm39) R280L probably damaging Het
Or1l4 T C 2: 37,091,778 (GRCm39) V175A possibly damaging Het
P2ry1 T A 3: 60,911,596 (GRCm39) I245N probably damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Plek T A 11: 16,940,058 (GRCm39) Y217F probably damaging Het
Plpp1 A T 13: 113,003,399 (GRCm39) I208F possibly damaging Het
Ptges3-ps C T 6: 85,821,537 (GRCm39) noncoding transcript Het
Ptprf A G 4: 118,080,453 (GRCm39) L1267P probably benign Het
Ptprz1 A T 6: 23,045,658 (GRCm39) S2143C probably damaging Het
Scn9a T C 2: 66,314,393 (GRCm39) D1764G probably damaging Het
Serpinb5 T A 1: 106,809,458 (GRCm39) L288Q probably damaging Het
Slc6a20b T G 9: 123,425,251 (GRCm39) M539L probably benign Het
Slfnl1 A G 4: 120,390,558 (GRCm39) T70A probably benign Het
Smtn C A 11: 3,479,608 (GRCm39) L486F probably damaging Het
Sptbn2 G A 19: 4,781,420 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,691 (GRCm39) L144I possibly damaging Het
Tjp3 C T 10: 81,116,980 (GRCm39) R183K probably benign Het
Tnip3 A G 6: 65,502,395 (GRCm39) probably null Het
Tspan12 T A 6: 21,772,770 (GRCm39) M212L probably benign Het
Ttn T A 2: 76,708,385 (GRCm39) probably benign Het
Vmn1r71 T C 7: 10,482,545 (GRCm39) M48V probably benign Het
Vmn2r10 A G 5: 109,143,667 (GRCm39) F761S probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr72 A G 9: 74,058,950 (GRCm39) T348A probably damaging Het
Xrn1 A T 9: 95,856,480 (GRCm39) L333F 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
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
Predicted Primers PCR Primer
(F):5'- AGAAATCTCCAGTATTTGCTTGCTC -3'
(R):5'- GCAGCTCTTTGTTATTAACAGTTGG -3'

Sequencing Primer
(F):5'- GCTTGCTCTAGTTGATATTCAGAAC -3'
(R):5'- AACAGTTGGGATTTCATTATGGC -3'
Posted On 2017-08-16