Incidental Mutation 'IGL01503:Plpp6'
ID 88938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plpp6
Ensembl Gene ENSMUSG00000040105
Gene Name phospholipid phosphatase 6
Synonyms Ppapdc2, 4932443D16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01503
Quality Score
Chromosome 19
Chromosomal Location 28963953-28966811 bp(+) (GRCm38)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 28964879 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 293 (*293W)
Ref Sequence ENSEMBL: ENSMUSP00000047776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000045674] [ENSMUST00000160542] [ENSMUST00000161813] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]
AlphaFold Q9D4F2
Predicted Effect probably benign
Transcript: ENSMUST00000025872
SMART Domains Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202

Pfam:SPATA6 1 91 1e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000045674
AA Change: *293W
SMART Domains Protein: ENSMUSP00000047776
Gene: ENSMUSG00000040105
AA Change: *293W

low complexity region 10 34 N/A INTRINSIC
low complexity region 69 84 N/A INTRINSIC
acidPPc 161 273 7.73e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160542
SMART Domains Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202

Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161813
Predicted Effect probably benign
Transcript: ENSMUST00000162110
SMART Domains Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202

Pfam:SPATA6 7 145 7.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164777
SMART Domains Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202

Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175647
SMART Domains Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

Pfam:SPATA6 6 78 4.5e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Plpp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03183:Plpp6 APN 19 28964671 missense possibly damaging 0.58
R0031:Plpp6 UTSW 19 28964843 missense probably benign 0.37
R1570:Plpp6 UTSW 19 28964778 missense probably damaging 1.00
R1846:Plpp6 UTSW 19 28964280 missense probably benign 0.10
R1871:Plpp6 UTSW 19 28964284 missense probably damaging 1.00
R2291:Plpp6 UTSW 19 28964320 missense probably damaging 1.00
R5503:Plpp6 UTSW 19 28964746 missense probably damaging 0.99
R7304:Plpp6 UTSW 19 28964217 missense probably benign
R8090:Plpp6 UTSW 19 28964871 nonsense probably null
R8109:Plpp6 UTSW 19 28964491 missense possibly damaging 0.62
Posted On 2013-12-03