Incidental Mutation 'R4368:Hspb7'
ID325843
Institutional Source Beutler Lab
Gene Symbol Hspb7
Ensembl Gene ENSMUSG00000006221
Gene Nameheat shock protein family, member 7 (cardiovascular)
SynonymsHsp25-2, cvHsp
MMRRC Submission 041115-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #R4368 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location141420779-141425311 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 141424018 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 157 (E157V)
Ref Sequence ENSEMBL: ENSMUSP00000099544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102486]
Predicted Effect probably damaging
Transcript: ENSMUST00000102486
AA Change: E157V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099544
Gene: ENSMUSG00000006221
AA Change: E157V

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
Pfam:HSP20 73 168 8.6e-16 PFAM
Meta Mutation Damage Score 0.116 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (46/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A G 3: 59,846,778 noncoding transcript Het
4932438A13Rik C T 3: 36,988,147 Q2761* probably null Het
Adamts7 G A 9: 90,195,851 probably null Het
Adgrv1 A C 13: 81,492,910 S3335R unknown Het
Armc6 G A 8: 70,225,293 L129F probably benign Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
Cdh19 G A 1: 110,889,712 Q767* probably null Het
Cep120 G A 18: 53,685,885 probably null Het
Dhx38 C T 8: 109,553,131 V976I probably damaging Het
Efr3a T A 15: 65,866,780 F753I possibly damaging Het
Gm5538 T C 3: 59,751,966 F280S probably damaging Het
Irx6 A G 8: 92,678,401 E299G probably damaging Het
Jhy T A 9: 40,917,144 N489Y possibly damaging Het
Klhl22 T C 16: 17,789,273 V481A possibly damaging Het
Mapk13 A G 17: 28,777,565 probably null Het
Meis1 A T 11: 19,010,656 probably benign Het
Nlrp14 A G 7: 107,197,805 K301E probably benign Het
Nol10 T C 12: 17,379,292 Y340H probably damaging Het
Olfr267 T C 4: 58,785,153 S190G probably benign Het
Paqr3 T C 5: 97,108,291 S75G probably damaging Het
Pdgfa T C 5: 138,986,306 T113A probably damaging Het
Phactr2 A G 10: 13,253,820 S235P probably damaging Het
Psph T G 5: 129,771,590 K9T probably benign Het
Ptpn21 T C 12: 98,678,593 Y1163C probably damaging Het
Scaf8 T C 17: 3,171,195 L319P unknown Het
Slc4a7 C T 14: 14,733,775 R62W probably damaging Het
Slc6a3 C A 13: 73,560,912 C318* probably null Het
Speer3 C G 5: 13,796,380 A238G possibly damaging Het
Taf1c A C 8: 119,599,316 S602R possibly damaging Het
Tiam2 A G 17: 3,414,683 D229G probably benign Het
Tor1a A G 2: 30,967,370 probably benign Het
Trim45 T C 3: 100,923,186 I92T probably damaging Het
Ttll8 G A 15: 88,914,181 P784S possibly damaging Het
Tubg1 G T 11: 101,125,364 probably null Het
Vmn1r178 A T 7: 23,894,022 N92I probably damaging Het
Vmn2r87 A G 10: 130,479,807 V130A probably benign Het
Wdr46 A G 17: 33,941,146 probably benign Het
Yme1l1 A G 2: 23,160,211 H18R possibly damaging Het
Zfp263 T A 16: 3,744,906 probably benign Het
Zfp534 T C 4: 147,675,558 D218G probably benign Het
Zscan12 T C 13: 21,369,383 V459A probably benign Het
Other mutations in Hspb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Hspb7 APN 4 141421820 missense probably benign 0.33
IGL03388:Hspb7 APN 4 141424045 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCAAAGACGAGACTCTGGC -3'
(R):5'- TCTATCTGGGTGAGAGCAGAC -3'

Sequencing Primer
(F):5'- AAAGACGAGACTCTGGCTTGATTTTG -3'
(R):5'- TGAGAGCAGACAGGTCCCTG -3'
Posted On2015-07-06