Incidental Mutation 'IGL00570:Pld4'
ID13045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pld4
Ensembl Gene ENSMUSG00000052160
Gene Namephospholipase D family, member 4
Synonymsthss
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00570
Quality Score
Status
Chromosome12
Chromosomal Location112760655-112768990 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112763491 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 69 (F69S)
Ref Sequence ENSEMBL: ENSMUSP00000067002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063888]
Predicted Effect probably benign
Transcript: ENSMUST00000063888
AA Change: F69S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: F69S

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 113 124 N/A INTRINSIC
PLDc 207 234 1.64e-10 SMART
Pfam:PLDc_3 237 414 5.5e-41 PFAM
PLDc 421 447 4.66e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222886
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 8,950,073 I1014V probably benign Het
Adam10 A G 9: 70,718,746 T99A possibly damaging Het
Adam11 A T 11: 102,776,350 I610F possibly damaging Het
Bcl2 T C 1: 106,712,358 T175A possibly damaging Het
Ccdc144b T A 3: 36,019,989 Y337F probably damaging Het
Col25a1 C T 3: 130,546,432 probably benign Het
Dlat A T 9: 50,645,032 probably benign Het
Enah T C 1: 181,935,696 probably benign Het
Gm29253 T C 1: 75,174,474 probably benign Het
Gsto1 T C 19: 47,857,936 V74A probably benign Het
Haus6 A T 4: 86,607,981 F46L probably benign Het
Hdac3 G A 18: 37,944,121 probably benign Het
Mdn1 A G 4: 32,735,719 S3462G probably benign Het
Mki67 T C 7: 135,708,101 Y207C possibly damaging Het
Nat10 T A 2: 103,725,764 probably null Het
Nphp1 A C 2: 127,763,885 V340G probably damaging Het
Nrap C T 19: 56,338,113 G1170E probably benign Het
Plcg1 T A 2: 160,757,266 V878E probably damaging Het
Scn9a A G 2: 66,484,142 I1733T probably damaging Het
Slc6a2 T C 8: 92,997,057 V601A possibly damaging Het
Ubr1 A G 2: 120,941,093 I438T possibly damaging Het
Unc93a C A 17: 13,120,756 probably null Het
Zfp616 G A 11: 74,085,805 A967T probably benign Het
Other mutations in Pld4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01839:Pld4 APN 12 112765079 missense probably damaging 1.00
IGL01954:Pld4 APN 12 112767921 critical splice donor site probably null
IGL02253:Pld4 APN 12 112766707 missense probably damaging 1.00
IGL03149:Pld4 APN 12 112766829 missense probably benign 0.00
IGL03278:Pld4 APN 12 112766731 missense probably damaging 0.98
IGL03349:Pld4 APN 12 112767879 missense probably benign 0.01
Lipodicum UTSW 12 112765064 missense probably damaging 1.00
PIT4403001:Pld4 UTSW 12 112767822 missense probably damaging 1.00
PIT4468001:Pld4 UTSW 12 112767822 missense probably damaging 1.00
R0052:Pld4 UTSW 12 112767857 missense probably benign 0.03
R1078:Pld4 UTSW 12 112763442 missense probably benign
R1756:Pld4 UTSW 12 112763392 splice site probably null
R2006:Pld4 UTSW 12 112768489 missense possibly damaging 0.89
R2037:Pld4 UTSW 12 112768558 missense probably damaging 1.00
R3738:Pld4 UTSW 12 112768035 missense probably benign 0.07
R4630:Pld4 UTSW 12 112765064 missense probably damaging 1.00
R4911:Pld4 UTSW 12 112764517 missense probably benign 0.01
R5008:Pld4 UTSW 12 112768050 missense possibly damaging 0.89
R5263:Pld4 UTSW 12 112765031 missense probably damaging 1.00
R5310:Pld4 UTSW 12 112768612 missense probably damaging 1.00
R5386:Pld4 UTSW 12 112763988 nonsense probably null
R5513:Pld4 UTSW 12 112762554 missense probably benign
R5788:Pld4 UTSW 12 112764117 missense probably benign
R6085:Pld4 UTSW 12 112766886 missense probably benign 0.01
R6157:Pld4 UTSW 12 112768101 missense probably damaging 1.00
R6702:Pld4 UTSW 12 112765051 missense probably damaging 1.00
R6767:Pld4 UTSW 12 112764115 missense possibly damaging 0.51
R6962:Pld4 UTSW 12 112766854 missense probably benign 0.00
R7864:Pld4 UTSW 12 112765123 missense probably damaging 1.00
R8792:Pld4 UTSW 12 112763490 missense probably benign 0.00
R8826:Pld4 UTSW 12 112766776 missense possibly damaging 0.95
Posted On2012-12-06