Incidental Mutation 'IGL00753:Plbd1'
ID13035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plbd1
Ensembl Gene ENSMUSG00000030214
Gene Namephospholipase B domain containing 1
Synonyms1100001H23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00753
Quality Score
Status
Chromosome6
Chromosomal Location136612070-136661928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 136634470 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 270 (Y270D)
Ref Sequence ENSEMBL: ENSMUSP00000032336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032336]
Predicted Effect probably benign
Transcript: ENSMUST00000032336
AA Change: Y270D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: Y270D

DomainStartEndE-ValueType
Pfam:Phospholip_B 16 545 3.7e-198 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137139
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad5 C A 11: 80,132,858 Q1596K probably benign Het
Bcl9l C A 9: 44,505,627 T254K possibly damaging Het
Csmd3 A G 15: 47,644,235 Y2961H probably damaging Het
Dopey2 A G 16: 93,769,624 T980A probably benign Het
Gdpd3 C A 7: 126,767,426 Y118* probably null Het
Ift140 T A 17: 25,055,644 F763L probably damaging Het
Igfn1 G T 1: 135,966,726 P2034H probably damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Msantd2 T C 9: 37,523,549 probably benign Het
Myo18a T C 11: 77,825,151 S864P probably damaging Het
Plcl1 T C 1: 55,696,738 S413P probably damaging Het
Scn2a A G 2: 65,683,863 N297S possibly damaging Het
Tbc1d17 T C 7: 44,843,085 T385A probably benign Het
Thsd7a C T 6: 12,327,529 C1448Y probably damaging Het
Tnpo3 T A 6: 29,565,787 I523F probably benign Het
Vps13b C T 15: 35,372,031 S24L probably damaging Het
Wdr37 G A 13: 8,861,174 R18C probably damaging Het
Zfyve16 T A 13: 92,521,118 K762* probably null Het
Zmym2 T A 14: 56,957,060 C1258* probably null Het
Zswim5 T C 4: 116,985,736 W893R possibly damaging Het
Other mutations in Plbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02131:Plbd1 APN 6 136661683 utr 5 prime probably benign
R0355:Plbd1 UTSW 6 136641167 missense possibly damaging 0.71
R0762:Plbd1 UTSW 6 136641147 missense probably damaging 1.00
R1019:Plbd1 UTSW 6 136651905 missense probably benign 0.03
R1456:Plbd1 UTSW 6 136613816 missense probably benign 0.12
R1607:Plbd1 UTSW 6 136612306 missense probably benign 0.04
R1640:Plbd1 UTSW 6 136640125 missense probably benign 0.00
R2166:Plbd1 UTSW 6 136613790 critical splice donor site probably null
R2909:Plbd1 UTSW 6 136634574 missense probably damaging 1.00
R4494:Plbd1 UTSW 6 136613858 missense probably damaging 1.00
R4529:Plbd1 UTSW 6 136651825 missense probably benign 0.04
R4530:Plbd1 UTSW 6 136651825 missense probably benign 0.04
R5206:Plbd1 UTSW 6 136641156 missense probably benign 0.17
R5272:Plbd1 UTSW 6 136640158 missense probably damaging 1.00
R5522:Plbd1 UTSW 6 136617300 missense probably benign 0.31
R5649:Plbd1 UTSW 6 136616989 missense probably benign 0.01
R5879:Plbd1 UTSW 6 136634505 missense probably damaging 1.00
R5940:Plbd1 UTSW 6 136613721 intron probably benign
R6311:Plbd1 UTSW 6 136613947 missense probably benign 0.09
R6590:Plbd1 UTSW 6 136635600 missense probably damaging 1.00
R6657:Plbd1 UTSW 6 136617252 missense probably damaging 0.99
R6690:Plbd1 UTSW 6 136635600 missense probably damaging 1.00
R6842:Plbd1 UTSW 6 136635614 missense probably benign 0.05
R6938:Plbd1 UTSW 6 136616987 missense probably benign 0.00
R7000:Plbd1 UTSW 6 136612838 missense probably benign 0.21
R7214:Plbd1 UTSW 6 136612831 missense probably damaging 1.00
R7654:Plbd1 UTSW 6 136651866 missense possibly damaging 0.47
R7744:Plbd1 UTSW 6 136617246 missense probably benign 0.00
R7870:Plbd1 UTSW 6 136617328 missense possibly damaging 0.81
R7953:Plbd1 UTSW 6 136617328 missense possibly damaging 0.81
Posted On2012-12-06