Incidental Mutation 'R9424:Hspb7'
ID 712482
Institutional Source Beutler Lab
Gene Symbol Hspb7
Ensembl Gene ENSMUSG00000006221
Gene Name heat shock protein family, member 7 (cardiovascular)
Synonyms cvHsp, Hsp25-2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R9424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 141148090-141152621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141149241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
Ref Sequence ENSEMBL: ENSMUSP00000099544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102486]
AlphaFold P35385
Predicted Effect possibly damaging
Transcript: ENSMUST00000102486
AA Change: D49G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099544
Gene: ENSMUSG00000006221
AA Change: D49G

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
Pfam:HSP20 73 168 8.6e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show embryonic lethality during organogenesis and defects in heart development associated with increased thin filament length and formation of atypical actin filament bundles in cardiomyocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ak2 A G 4: 128,896,195 (GRCm39) E120G possibly damaging Het
Akap9 C A 5: 4,012,223 (GRCm39) Y975* probably null Het
Akap9 C T 5: 4,012,224 (GRCm39) Q976* probably null Het
Bpnt1 T C 1: 185,070,335 (GRCm39) M9T possibly damaging Het
C4bp C A 1: 130,584,912 (GRCm39) L41F probably damaging Het
Car3 A T 3: 14,929,450 (GRCm39) I59F Het
Card11 T C 5: 140,894,395 (GRCm39) D78G probably damaging Het
Ccdc125 A G 13: 100,820,876 (GRCm39) D199G possibly damaging Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd48 T A 1: 171,532,432 (GRCm39) I237N possibly damaging Het
Cep295 T C 9: 15,244,499 (GRCm39) E1319G probably damaging Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dennd2a A T 6: 39,485,294 (GRCm39) Y328* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dip2c A G 13: 9,709,431 (GRCm39) T1424A probably damaging Het
Dlg2 A G 7: 92,080,325 (GRCm39) N733S probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Fgd5 A T 6: 91,956,017 (GRCm39) R3* probably null Het
Gbf1 A T 19: 46,248,122 (GRCm39) T300S probably benign Het
Gm5591 A T 7: 38,219,721 (GRCm39) L384Q probably damaging Het
Grm5 C T 7: 87,765,484 (GRCm39) A904V probably benign Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Kalrn T C 16: 33,809,188 (GRCm39) T2567A probably benign Het
Kat8 T C 7: 127,524,100 (GRCm39) L380S probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Mgat4a C A 1: 37,529,436 (GRCm39) V148F probably damaging Het
Mtg1 T A 7: 139,727,212 (GRCm39) Y238* probably null Het
Neb T A 2: 52,041,410 (GRCm39) Q6807L probably benign Het
Nlrp9a C A 7: 26,260,178 (GRCm39) F644L probably benign Het
Pcdhb15 A G 18: 37,607,263 (GRCm39) N165S Het
Pcdhb5 C A 18: 37,454,120 (GRCm39) Q167K probably damaging Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Piezo1 A G 8: 123,218,079 (GRCm39) V1220A Het
Pkd1l1 T C 11: 8,820,091 (GRCm39) T1713A Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Ppfia4 C A 1: 134,247,044 (GRCm39) V559F possibly damaging Het
Ppil6 T C 10: 41,379,024 (GRCm39) S224P probably damaging Het
Ppp2r2d T A 7: 138,475,978 (GRCm39) M262K possibly damaging Het
Prl7d1 A T 13: 27,894,185 (GRCm39) M127K probably benign Het
Rassf9 T A 10: 102,381,577 (GRCm39) C320S probably benign Het
Rbm19 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 5: 120,278,345 (GRCm39) probably benign Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Serpinb9b A G 13: 33,213,544 (GRCm39) S34G probably damaging Het
Slc19a2 T C 1: 164,076,895 (GRCm39) V25A probably damaging Het
Slc1a2 G A 2: 102,591,394 (GRCm39) E375K probably damaging Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sparcl1 A T 5: 104,241,030 (GRCm39) D131E possibly damaging Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Sufu G A 19: 46,474,320 (GRCm39) W465* probably null Het
Szt2 A G 4: 118,248,151 (GRCm39) L691P probably damaging Het
Tbc1d4 A T 14: 101,703,096 (GRCm39) I783N probably damaging Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Tmem217 C A 17: 29,745,690 (GRCm39) M13I possibly damaging Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Trp53bp2 T C 1: 182,273,864 (GRCm39) V503A possibly damaging Het
Tspoap1 G A 11: 87,652,082 (GRCm39) probably benign Het
Ttn T C 2: 76,582,347 (GRCm39) T22849A probably damaging Het
Ugt2b37 A T 5: 87,402,217 (GRCm39) M138K probably damaging Het
Uimc1 A T 13: 55,223,646 (GRCm39) F209I possibly damaging Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Wdr91 A T 6: 34,861,302 (GRCm39) N633K possibly damaging Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P probably benign Het
Other mutations in Hspb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Hspb7 APN 4 141,149,131 (GRCm39) missense probably benign 0.33
IGL03388:Hspb7 APN 4 141,151,356 (GRCm39) missense probably damaging 1.00
R0042:Hspb7 UTSW 4 141,151,245 (GRCm39) missense probably damaging 0.99
R0077:Hspb7 UTSW 4 141,151,358 (GRCm39) missense probably damaging 0.97
R0147:Hspb7 UTSW 4 141,151,302 (GRCm39) missense probably damaging 1.00
R0148:Hspb7 UTSW 4 141,151,302 (GRCm39) missense probably damaging 1.00
R4368:Hspb7 UTSW 4 141,151,329 (GRCm39) missense probably damaging 0.98
R4717:Hspb7 UTSW 4 141,149,896 (GRCm39) missense probably damaging 1.00
R6039:Hspb7 UTSW 4 141,151,215 (GRCm39) missense probably damaging 0.98
R6039:Hspb7 UTSW 4 141,151,215 (GRCm39) missense probably damaging 0.98
R6165:Hspb7 UTSW 4 141,149,862 (GRCm39) missense probably benign 0.26
R6361:Hspb7 UTSW 4 141,149,860 (GRCm39) missense possibly damaging 0.47
R7087:Hspb7 UTSW 4 141,149,866 (GRCm39) missense possibly damaging 0.88
R7769:Hspb7 UTSW 4 141,151,335 (GRCm39) missense possibly damaging 0.93
R8238:Hspb7 UTSW 4 141,149,857 (GRCm39) missense probably damaging 1.00
X0026:Hspb7 UTSW 4 141,151,338 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATAAAGCGCTGGCAGTCAG -3'
(R):5'- ATATGGCTGTGACCCATGC -3'

Sequencing Primer
(F):5'- GGACCCACTCGTTTCTCCAG -3'
(R):5'- ATGCGGCACCTATGTCTG -3'
Posted On 2022-05-16