Incidental Mutation 'IGL01839:Pld4'
ID155062
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 #IGL01839
Quality Score
Status
Chromosome12
Chromosomal Location112760655-112768990 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112765079 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 222 (H222L)
Ref Sequence ENSEMBL: ENSMUSP00000067002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063888]
Predicted Effect probably damaging
Transcript: ENSMUST00000063888
AA Change: H222L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: H222L

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,544,622 L205Q probably benign Het
Cadps G T 14: 12,467,184 probably benign Het
Cfap69 G A 5: 5,626,027 Q223* probably null Het
Col11a2 G A 17: 34,064,082 probably benign Het
Col3a1 T C 1: 45,311,830 V28A unknown Het
Cyp17a1 A G 19: 46,670,671 I177T possibly damaging Het
Exoc2 A G 13: 30,906,799 L274P probably damaging Het
Fastkd3 A G 13: 68,584,852 R431G probably benign Het
Fat3 T C 9: 15,997,872 N2278S probably damaging Het
Ift172 G T 5: 31,266,350 A756E probably damaging Het
Igf2r T C 17: 12,705,022 Y1087C probably damaging Het
Khdrbs2 T C 1: 32,414,862 probably benign Het
Kmt5a A G 5: 124,451,354 K205R probably benign Het
Lrrc45 A T 11: 120,717,149 probably null Het
Ltbp2 T C 12: 84,793,658 S1045G possibly damaging Het
Nfib T C 4: 82,310,370 M505V probably benign Het
Oit3 C T 10: 59,429,496 V316I probably damaging Het
Olfr1475 T C 19: 13,479,440 T253A probably benign Het
Olfr397 T A 11: 73,964,611 M1K probably null Het
Pcdhb5 A T 18: 37,321,449 N294I probably damaging Het
Sacs T C 14: 61,183,945 probably benign Het
Sgms2 T C 3: 131,342,102 K41R possibly damaging Het
Slc17a2 T C 13: 23,812,685 S58P possibly damaging Het
Slc22a4 A T 11: 53,996,077 S280T probably damaging Het
Slc7a15 C T 12: 8,539,365 G61S probably damaging Het
Trrap A G 5: 144,821,875 K2190E probably damaging Het
Ttn C A 2: 76,814,358 Q13017H probably damaging Het
Other mutations in Pld4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Pld4 APN 12 112763491 missense probably benign 0.01
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 On2014-02-04