Incidental Mutation 'IGL01830:Pld1'
ID 154775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pld1
Ensembl Gene ENSMUSG00000027695
Gene Name phospholipase D1
Synonyms Pld1a, Pld1b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01830
Quality Score
Status
Chromosome 3
Chromosomal Location 27992844-28187511 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 28102153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000067757] [ENSMUST00000120834] [ENSMUST00000123539]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067757
SMART Domains Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695

DomainStartEndE-ValueType
PX 79 209 7.97e-25 SMART
PH 220 330 5.71e-9 SMART
PLDc 459 486 6.6e-6 SMART
low complexity region 503 517 N/A INTRINSIC
low complexity region 575 589 N/A INTRINSIC
PLDc 853 880 1.34e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120834
SMART Domains Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695

DomainStartEndE-ValueType
PX 79 209 7.97e-25 SMART
PH 220 330 5.71e-9 SMART
PLDc 459 486 6.6e-6 SMART
low complexity region 503 517 N/A INTRINSIC
low complexity region 575 589 N/A INTRINSIC
PLDc 853 880 1.34e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123539
SMART Domains Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695

DomainStartEndE-ValueType
PX 79 209 7.97e-25 SMART
PH 220 330 5.71e-9 SMART
PLDc 459 486 6.6e-6 SMART
low complexity region 503 517 N/A INTRINSIC
low complexity region 575 586 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148827
SMART Domains Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695

DomainStartEndE-ValueType
PH 32 142 5.71e-9 SMART
PLDc 271 298 6.6e-6 SMART
low complexity region 315 329 N/A INTRINSIC
low complexity region 387 401 N/A INTRINSIC
PLDc 665 715 2.5e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149017
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a null allele show reduced tumor growth and angiogenesis. Homozygotes for a second null allele show abnormal hepatic autophagy after food restriction. Homozygotes for a third null allele show altered platelet activation and protection from thrombosis and ischemic brain injury. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,717,779 (GRCm39) P252Q probably damaging Het
Anks4b T A 7: 119,773,219 (GRCm39) N26K probably damaging Het
Arrdc5 C T 17: 56,601,652 (GRCm39) V158I probably damaging Het
Catsper2 T C 2: 121,237,843 (GRCm39) D179G probably damaging Het
Cd44 T C 2: 102,672,603 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,888,925 (GRCm39) D231E possibly damaging Het
Cep57l1 C T 10: 41,604,649 (GRCm39) C160Y probably benign Het
Chek2 T A 5: 111,021,374 (GRCm39) L528Q probably benign Het
Ciita T C 16: 10,338,915 (GRCm39) L973P probably damaging Het
Dock2 A T 11: 34,582,744 (GRCm39) L637* probably null Het
Fsip2 A C 2: 82,815,273 (GRCm39) I3669L probably benign Het
Gapvd1 A G 2: 34,578,968 (GRCm39) V1218A probably benign Het
Gip T C 11: 95,919,550 (GRCm39) L91S possibly damaging Het
Gp2 T C 7: 119,050,765 (GRCm39) D322G probably damaging Het
Ift172 A G 5: 31,442,636 (GRCm39) V177A probably damaging Het
Kng2 T C 16: 22,806,801 (GRCm39) D466G probably damaging Het
Lpar5 G A 6: 125,058,785 (GRCm39) A169T probably benign Het
Med13 C T 11: 86,179,754 (GRCm39) probably benign Het
Meiob T A 17: 25,054,105 (GRCm39) C391S probably benign Het
Mgat5 A G 1: 127,339,869 (GRCm39) T417A probably damaging Het
Myo1b A T 1: 51,836,624 (GRCm39) L279* probably null Het
Myo1g T A 11: 6,464,522 (GRCm39) K513* probably null Het
Nxpe2 A T 9: 48,237,794 (GRCm39) S154T probably damaging Het
Ogn C T 13: 49,762,723 (GRCm39) Q22* probably null Het
Or4c12 A G 2: 89,773,775 (GRCm39) L228S probably benign Het
Pacs2 A T 12: 113,020,574 (GRCm39) K316* probably null Het
Pelo T A 13: 115,225,131 (GRCm39) I365F probably damaging Het
Phf3 G A 1: 30,853,148 (GRCm39) Q1021* probably null Het
Pik3r4 A G 9: 105,522,154 (GRCm39) D240G probably damaging Het
Pknox1 T C 17: 31,814,284 (GRCm39) M203T probably benign Het
Rabgef1 G T 5: 130,240,907 (GRCm39) C342F possibly damaging Het
Rbm19 A C 5: 120,262,760 (GRCm39) K307T possibly damaging Het
Sdcbp2 T A 2: 151,431,494 (GRCm39) I289N probably damaging Het
Slc5a12 G A 2: 110,428,151 (GRCm39) G69R probably damaging Het
Spag1 C A 15: 36,221,705 (GRCm39) S599R probably benign Het
Ubr4 A T 4: 139,199,811 (GRCm39) D4565V probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn1r225 T C 17: 20,722,717 (GRCm39) S53P probably damaging Het
Xrcc1 T A 7: 24,272,767 (GRCm39) probably benign Het
Other mutations in Pld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Pld1 APN 3 28,099,247 (GRCm39) critical splice donor site probably null
IGL01090:Pld1 APN 3 28,142,816 (GRCm39) missense probably benign 0.01
IGL01140:Pld1 APN 3 28,132,386 (GRCm39) missense probably benign 0.01
IGL01646:Pld1 APN 3 28,153,813 (GRCm39) missense probably damaging 1.00
IGL01946:Pld1 APN 3 28,178,766 (GRCm39) missense probably damaging 1.00
IGL02139:Pld1 APN 3 28,174,961 (GRCm39) missense probably damaging 0.98
IGL02189:Pld1 APN 3 28,174,932 (GRCm39) missense probably benign 0.03
IGL02476:Pld1 APN 3 28,102,188 (GRCm39) missense probably damaging 1.00
IGL02540:Pld1 APN 3 28,083,309 (GRCm39) unclassified probably benign
IGL02649:Pld1 APN 3 28,141,378 (GRCm39) missense probably damaging 0.98
IGL02720:Pld1 APN 3 28,141,411 (GRCm39) missense probably damaging 1.00
IGL02831:Pld1 APN 3 28,130,574 (GRCm39) missense probably damaging 0.99
IGL02953:Pld1 APN 3 28,166,396 (GRCm39) missense probably benign 0.03
IGL03005:Pld1 APN 3 28,141,402 (GRCm39) missense possibly damaging 0.78
IGL03251:Pld1 APN 3 28,142,814 (GRCm39) missense probably benign 0.06
IGL03331:Pld1 APN 3 28,139,994 (GRCm39) missense probably damaging 1.00
A9681:Pld1 UTSW 3 28,139,981 (GRCm39) missense probably benign 0.01
IGL03134:Pld1 UTSW 3 28,083,316 (GRCm39) missense probably benign 0.01
P0023:Pld1 UTSW 3 28,102,274 (GRCm39) missense probably damaging 1.00
R0054:Pld1 UTSW 3 28,150,033 (GRCm39) splice site probably benign
R0054:Pld1 UTSW 3 28,150,033 (GRCm39) splice site probably benign
R0282:Pld1 UTSW 3 28,132,422 (GRCm39) missense probably benign
R0372:Pld1 UTSW 3 28,142,787 (GRCm39) splice site probably null
R0454:Pld1 UTSW 3 28,178,724 (GRCm39) missense probably damaging 1.00
R0492:Pld1 UTSW 3 28,163,966 (GRCm39) missense probably damaging 0.96
R0505:Pld1 UTSW 3 28,174,971 (GRCm39) missense possibly damaging 0.69
R0667:Pld1 UTSW 3 28,133,327 (GRCm39) splice site probably null
R0678:Pld1 UTSW 3 28,174,933 (GRCm39) missense probably damaging 0.99
R0980:Pld1 UTSW 3 28,178,724 (GRCm39) missense probably damaging 1.00
R1200:Pld1 UTSW 3 28,103,435 (GRCm39) missense probably damaging 1.00
R1235:Pld1 UTSW 3 28,082,883 (GRCm39) missense probably benign 0.05
R1657:Pld1 UTSW 3 28,125,336 (GRCm39) missense probably benign 0.04
R1670:Pld1 UTSW 3 28,103,389 (GRCm39) missense probably benign 0.17
R1705:Pld1 UTSW 3 28,125,426 (GRCm39) critical splice donor site probably null
R1815:Pld1 UTSW 3 28,163,917 (GRCm39) missense probably benign 0.04
R2215:Pld1 UTSW 3 28,132,542 (GRCm39) missense probably benign 0.16
R3435:Pld1 UTSW 3 28,178,772 (GRCm39) missense probably benign 0.13
R3522:Pld1 UTSW 3 28,085,396 (GRCm39) missense probably damaging 1.00
R4206:Pld1 UTSW 3 28,174,932 (GRCm39) missense probably benign 0.03
R4553:Pld1 UTSW 3 28,178,851 (GRCm39) missense probably benign
R4612:Pld1 UTSW 3 28,185,882 (GRCm39) missense possibly damaging 0.92
R4623:Pld1 UTSW 3 28,083,393 (GRCm39) missense probably benign 0.01
R4840:Pld1 UTSW 3 28,130,700 (GRCm39) missense probably benign 0.10
R4869:Pld1 UTSW 3 28,163,951 (GRCm39) missense possibly damaging 0.84
R4982:Pld1 UTSW 3 28,085,447 (GRCm39) missense probably damaging 0.97
R5087:Pld1 UTSW 3 28,178,731 (GRCm39) missense probably damaging 1.00
R5182:Pld1 UTSW 3 28,099,230 (GRCm39) missense probably damaging 1.00
R5384:Pld1 UTSW 3 28,079,469 (GRCm39) missense probably damaging 1.00
R6243:Pld1 UTSW 3 28,149,954 (GRCm39) missense probably damaging 0.98
R6345:Pld1 UTSW 3 28,184,896 (GRCm39) intron probably benign
R6692:Pld1 UTSW 3 28,095,348 (GRCm39) missense probably benign 0.15
R6881:Pld1 UTSW 3 28,132,563 (GRCm39) missense possibly damaging 0.77
R7197:Pld1 UTSW 3 28,078,401 (GRCm39) missense probably damaging 1.00
R7267:Pld1 UTSW 3 28,130,550 (GRCm39) missense probably damaging 1.00
R7284:Pld1 UTSW 3 28,185,882 (GRCm39) missense possibly damaging 0.92
R7293:Pld1 UTSW 3 28,141,435 (GRCm39) missense probably damaging 0.99
R7440:Pld1 UTSW 3 28,095,419 (GRCm39) missense probably benign 0.01
R7524:Pld1 UTSW 3 28,078,470 (GRCm39) missense possibly damaging 0.77
R7747:Pld1 UTSW 3 28,141,338 (GRCm39) missense possibly damaging 0.66
R7882:Pld1 UTSW 3 28,099,158 (GRCm39) missense probably damaging 1.00
R7936:Pld1 UTSW 3 28,130,651 (GRCm39) missense probably damaging 1.00
R8033:Pld1 UTSW 3 28,083,359 (GRCm39) missense probably benign 0.02
R8269:Pld1 UTSW 3 28,079,388 (GRCm39) missense probably benign 0.17
R8316:Pld1 UTSW 3 28,078,361 (GRCm39) missense probably benign
R8427:Pld1 UTSW 3 28,142,795 (GRCm39) missense probably damaging 0.97
R8523:Pld1 UTSW 3 28,140,025 (GRCm39) missense probably damaging 1.00
R8832:Pld1 UTSW 3 28,177,846 (GRCm39) missense
R8850:Pld1 UTSW 3 28,166,439 (GRCm39) missense possibly damaging 0.88
R9143:Pld1 UTSW 3 28,132,643 (GRCm39) intron probably benign
R9549:Pld1 UTSW 3 28,125,381 (GRCm39) missense possibly damaging 0.89
R9648:Pld1 UTSW 3 28,174,900 (GRCm39) missense probably damaging 0.99
Z1088:Pld1 UTSW 3 28,083,392 (GRCm39) missense probably benign
Z1176:Pld1 UTSW 3 28,185,726 (GRCm39) nonsense probably null
Z1176:Pld1 UTSW 3 28,130,682 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04