Incidental Mutation 'IGL02885:Hspb11'
ID362957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspb11
Ensembl Gene ENSMUSG00000063172
Gene Nameheat shock protein family B (small), member 11
SynonymsIFT25, 2900042B11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02885
Quality Score
Status
Chromosome4
Chromosomal Location107253593-107279938 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 107273669 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 52 (C52Y)
Ref Sequence ENSEMBL: ENSMUSP00000118617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046558] [ENSMUST00000106749] [ENSMUST00000152717]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046558
AA Change: C52Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048810
Gene: ENSMUSG00000063172
AA Change: C52Y

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106749
AA Change: C52Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102360
Gene: ENSMUSG00000063172
AA Change: C52Y

DomainStartEndE-ValueType
PDB:1XPW|A 1 142 2e-88 PDB
SCOP:d1jhja_ 15 120 5e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137911
Predicted Effect possibly damaging
Transcript: ENSMUST00000152717
AA Change: C52Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118617
Gene: ENSMUSG00000063172
AA Change: C52Y

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice show fetal growth retardation and complete neonatal death due to severe structural heart defects. Omphalocele, polydactyly, left pulmonary isomerism, and skeletal defects such as micrognathia, cleft palate, malaligned sternal vertebrae, and a small rib cage are often observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,063,951 N683S probably benign Het
4930444G20Rik T A 10: 22,067,158 I308F possibly damaging Het
Ahi1 T A 10: 21,055,113 F46I possibly damaging Het
Als2 C T 1: 59,167,491 V1598I probably benign Het
Arid1b A T 17: 5,342,153 D1986V probably damaging Het
Bhlhe41 T A 6: 145,865,263 D2V probably damaging Het
Borcs6 A G 11: 69,060,246 D150G possibly damaging Het
Ccdc88a G T 11: 29,448,050 R261L probably damaging Het
Ccne2 T A 4: 11,198,723 probably benign Het
Cenpk A G 13: 104,249,395 D266G probably damaging Het
Ces2b T C 8: 104,834,931 V219A probably damaging Het
Cpa1 A G 6: 30,645,170 R382G probably damaging Het
Cplx4 G T 18: 65,956,913 T145N probably damaging Het
Cyp19a1 T C 9: 54,171,818 I269V probably benign Het
Dennd3 A G 15: 73,568,696 Y1192C probably benign Het
Dpp6 T C 5: 27,718,473 Y694H probably damaging Het
Eea1 C A 10: 96,041,484 N1353K probably benign Het
Fam111a T A 19: 12,584,124 probably null Het
Fat1 T C 8: 44,989,167 S1169P probably benign Het
Frk G T 10: 34,484,071 A23S probably benign Het
Fyb2 T C 4: 105,003,921 V594A probably damaging Het
Gtpbp3 C A 8: 71,489,420 probably benign Het
Hoxa5 G T 6: 52,202,708 A229D probably damaging Het
Igf2r A T 17: 12,694,120 F1780L possibly damaging Het
Jade2 A T 11: 51,831,296 D143E probably damaging Het
Kdm1a T C 4: 136,552,535 I719V probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lmx1b G T 2: 33,567,204 Q206K probably benign Het
Lrrtm4 G A 6: 80,021,803 G66D probably damaging Het
Myg1 G T 15: 102,332,159 G90C probably damaging Het
Nbea C T 3: 55,631,986 V2785I probably benign Het
Ncr1 C A 7: 4,338,226 P35Q probably damaging Het
Nos1 T A 5: 117,895,790 C326S probably damaging Het
Olfr410 G T 11: 74,334,693 H179Q possibly damaging Het
Olfr527 T C 7: 140,336,159 F99S possibly damaging Het
Olfr569 A T 7: 102,888,036 V39E possibly damaging Het
Pde4d A G 13: 109,948,261 Y520C probably damaging Het
Ppm1d A G 11: 85,326,944 M178V possibly damaging Het
Samd3 G A 10: 26,271,864 R479K probably benign Het
Serpinb6a A G 13: 33,918,799 V226A probably benign Het
Slc26a4 T C 12: 31,525,476 E737G probably benign Het
Slc34a3 A G 2: 25,231,057 C340R probably damaging Het
Spata31d1b C A 13: 59,719,127 probably benign Het
Trappc12 A G 12: 28,747,014 V173A probably benign Het
Vmn2r66 A T 7: 84,995,515 D562E probably benign Het
Zfp395 C T 14: 65,395,895 P451L probably benign Het
Other mutations in Hspb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Hspb11 APN 4 107275252 missense probably benign 0.02
IGL02833:Hspb11 APN 4 107275295 splice site probably benign
IGL02978:Hspb11 APN 4 107275274 missense probably damaging 1.00
R2076:Hspb11 UTSW 4 107279767 missense possibly damaging 0.92
R3402:Hspb11 UTSW 4 107273606 splice site probably null
R5286:Hspb11 UTSW 4 107279801 missense probably damaging 0.97
R7691:Hspb11 UTSW 4 107273689 missense probably benign 0.01
Posted On2015-12-18