Incidental Mutation 'R4492:Hspa4'
ID 500647
Institutional Source Beutler Lab
Gene Symbol Hspa4
Ensembl Gene ENSMUSG00000020361
Gene Name heat shock protein 4
Synonyms 70kDa, APG-2, Hsp70RY, Hsp110
MMRRC Submission 041581-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R4492 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 53150641-53191284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53171296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 303 (R303G)
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: R303G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: R303G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T G 10: 89,561,676 (GRCm39) I157L probably benign Het
Amph T C 13: 19,333,928 (GRCm39) V663A possibly damaging Het
Anapc16 A G 10: 59,826,724 (GRCm39) S50P possibly damaging Het
Ank3 T A 10: 69,644,755 (GRCm39) V60D probably damaging Het
Btbd9 A G 17: 30,746,545 (GRCm39) Y94H probably damaging Het
Chil3 A G 3: 106,063,017 (GRCm39) I191T probably damaging Het
Clpb T C 7: 101,436,929 (GRCm39) L668P probably damaging Het
Cyp2d22 G A 15: 82,258,571 (GRCm39) H97Y probably benign Het
Dhrs7 A T 12: 72,699,899 (GRCm39) N244K probably damaging Het
Dusp4 C T 8: 35,274,890 (GRCm39) T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 106,611,700 (GRCm39) probably null Het
Etl4 G A 2: 20,811,676 (GRCm39) S1621N possibly damaging Het
Fam174a T C 1: 95,241,701 (GRCm39) S54P probably benign Het
Fdxacb1 T C 9: 50,681,547 (GRCm39) F7S probably damaging Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gpr156 T A 16: 37,812,468 (GRCm39) L268H probably damaging Het
Gpr17 A T 18: 32,080,304 (GRCm39) I253N possibly damaging Het
H2-T23 A T 17: 36,343,058 (GRCm39) N106K probably damaging Het
Irgm1 G A 11: 48,756,955 (GRCm39) silent Het
Jph1 A C 1: 17,067,770 (GRCm39) I114S probably damaging Het
Kcna1 C T 6: 126,619,238 (GRCm39) D361N possibly damaging Het
Kcna4 G A 2: 107,126,436 (GRCm39) R390Q probably damaging Het
Lum C A 10: 97,404,300 (GRCm39) P65H probably damaging Het
Mc4r A G 18: 66,992,711 (GRCm39) L134P probably benign Het
Mroh8 A T 2: 157,099,960 (GRCm39) I248N probably damaging Het
Nos2 A G 11: 78,840,921 (GRCm39) T677A probably benign Het
Nup37 T A 10: 88,010,791 (GRCm39) F257I possibly damaging Het
Or13c3 T C 4: 52,855,764 (GRCm39) I250V probably benign Het
Or6k6 C T 1: 173,944,770 (GRCm39) V271I probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,567 (GRCm39) M501R possibly damaging Het
Pitx1 T C 13: 55,976,465 (GRCm39) K65E probably benign Het
Pla1a C T 16: 38,229,972 (GRCm39) A247T probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Prss8 A G 7: 127,528,979 (GRCm39) S26P probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rock2 T A 12: 17,027,684 (GRCm39) C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Serpina6 A G 12: 103,613,146 (GRCm39) W385R probably damaging Het
Slc12a5 T C 2: 164,821,263 (GRCm39) M249T probably benign Het
Srsf9 T A 5: 115,470,651 (GRCm39) I117N probably damaging Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc21a T C 9: 119,770,346 (GRCm39) V139A probably benign Het
Zfp236 A T 18: 82,648,125 (GRCm39) V1012D probably damaging Het
Zfp612 C A 8: 110,815,929 (GRCm39) Q379K probably damaging Het
Zfp930 C T 8: 69,680,898 (GRCm39) Q198* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AACAGTTCACTAGTTTTCCCAGTC -3'
(R):5'- TTGATACAACATTGGGAGGCAG -3'

Sequencing Primer
(F):5'- AGTTCACTAGTTTTCCCAGTCATTTG -3'
(R):5'- GATGAGGTGTTGGTAAATCACTTC -3'
Posted On 2017-12-01