Incidental Mutation 'IGL03388:Hspb7'
ID420963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspb7
Ensembl Gene ENSMUSG00000006221
Gene Nameheat shock protein family, member 7 (cardiovascular)
SynonymsHsp25-2, cvHsp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #IGL03388
Quality Score
Status
Chromosome4
Chromosomal Location141420779-141425311 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141424045 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 166 (E166G)
Ref Sequence ENSEMBL: ENSMUSP00000099544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102486]
Predicted Effect probably damaging
Transcript: ENSMUST00000102486
AA Change: E166G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099544
Gene: ENSMUSG00000006221
AA Change: E166G

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
Pfam:HSP20 73 168 8.6e-16 PFAM
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,802,770 probably benign Het
B3gnt5 A G 16: 19,770,051 K340R possibly damaging Het
Ccr3 A G 9: 124,028,621 probably benign Het
Cdan1 A G 2: 120,730,511 probably benign Het
Clasp1 T A 1: 118,505,503 D237E possibly damaging Het
Ddx18 T C 1: 121,565,923 K111E possibly damaging Het
Defa21 T C 8: 21,025,748 L54P probably damaging Het
Dennd3 T C 15: 73,544,359 V486A probably damaging Het
Dnah9 T A 11: 65,947,542 D3143V probably damaging Het
Dnm1l A G 16: 16,314,052 probably benign Het
Epb41 T C 4: 131,974,794 Y510C probably damaging Het
Fat4 T C 3: 38,957,227 Y2159H probably damaging Het
Fmo1 A G 1: 162,836,147 V271A probably benign Het
Gm11492 T A 11: 87,568,216 L472* probably null Het
Gm12185 A G 11: 48,908,286 V460A probably benign Het
Hspa8 T C 9: 40,804,928 probably benign Het
Il31ra C A 13: 112,546,212 S120I probably damaging Het
Kdm5b A G 1: 134,627,322 T1323A probably benign Het
Lgals9 T A 11: 78,963,421 I346F probably damaging Het
Lgi2 T C 5: 52,538,477 D372G probably damaging Het
Magi3 A C 3: 104,015,841 S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 F203S probably benign Het
Nup210l G A 3: 90,170,044 V896I probably damaging Het
Nxf7 T C X: 135,584,740 K440E probably damaging Het
Olfr1505 T A 19: 13,919,620 V200D probably damaging Het
Olfr776 A T 10: 129,261,443 I161F probably benign Het
Pcdhb6 T C 18: 37,336,137 S20P probably damaging Het
Per2 G T 1: 91,444,789 probably benign Het
Pi15 G A 1: 17,602,777 A67T probably benign Het
Pnp2 A T 14: 50,963,538 N160I probably damaging Het
Ppp1r12c A G 7: 4,482,070 probably benign Het
Rabgap1l A T 1: 160,733,523 probably null Het
Rnf115 G A 3: 96,788,668 V257M probably damaging Het
Rtkn T A 6: 83,150,090 V346D probably benign Het
Rubcn A T 16: 32,841,568 N427K probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sel1l2 A C 2: 140,263,364 probably benign Het
Slc5a5 A G 8: 70,890,328 V196A probably benign Het
Sox13 A T 1: 133,388,948 L207H probably damaging Het
Tmtc2 A G 10: 105,321,483 probably benign Het
Trip12 T C 1: 84,743,186 K1409R probably damaging Het
Ttn C T 2: 76,967,137 A528T probably benign Het
Ubr4 T C 4: 139,415,032 I1310T probably damaging Het
Ypel5 T C 17: 72,846,405 F35L probably damaging Het
Zfp13 G T 17: 23,576,914 R228S probably benign Het
Other mutations in Hspb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Hspb7 APN 4 141421820 missense probably benign 0.33
R0042:Hspb7 UTSW 4 141423934 missense probably damaging 0.99
R0077:Hspb7 UTSW 4 141424047 missense probably damaging 0.97
R0147:Hspb7 UTSW 4 141423991 missense probably damaging 1.00
R0148:Hspb7 UTSW 4 141423991 missense probably damaging 1.00
R4368:Hspb7 UTSW 4 141424018 missense probably damaging 0.98
R4717:Hspb7 UTSW 4 141422585 missense probably damaging 1.00
R6039:Hspb7 UTSW 4 141423904 missense probably damaging 0.98
R6039:Hspb7 UTSW 4 141423904 missense probably damaging 0.98
R6165:Hspb7 UTSW 4 141422551 missense probably benign 0.26
R6361:Hspb7 UTSW 4 141422549 missense possibly damaging 0.47
R7087:Hspb7 UTSW 4 141422555 missense possibly damaging 0.88
X0026:Hspb7 UTSW 4 141424027 missense probably damaging 0.99
Posted On2016-08-02