Incidental Mutation 'IGL02931:Pgap6'
ID 364081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgap6
Ensembl Gene ENSMUSG00000024180
Gene Name post-glycosylphosphatidylinositol attachment to proteins 6
Synonyms Rxylt1, Tmem8, M83
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL02931
Quality Score
Status
Chromosome 17
Chromosomal Location 26332290-26342228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26336923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 280 (F280L)
Ref Sequence ENSEMBL: ENSMUSP00000025010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000128597]
AlphaFold Q9ESN3
Predicted Effect probably benign
Transcript: ENSMUST00000025010
AA Change: F280L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: F280L

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
EGF 495 531 1.99e1 SMART
Pfam:DUF3522 541 725 1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128597
SMART Domains Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180

DomainStartEndE-ValueType
EGF 3 39 1.99e1 SMART
Pfam:DUF3522 47 143 2e-36 PFAM
Pfam:DUF3522 134 194 2.6e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,029,012 (GRCm39) R254Q probably benign Het
Adgrv1 T C 13: 81,727,833 (GRCm39) Y269C probably damaging Het
Apol7a C A 15: 77,277,650 (GRCm39) E33* probably null Het
Arhgap29 T C 3: 121,786,509 (GRCm39) V358A probably benign Het
B3galt1 T C 2: 67,948,728 (GRCm39) S148P probably damaging Het
BC061237 A G 14: 44,740,779 (GRCm39) N60D possibly damaging Het
Bcl9l C T 9: 44,412,047 (GRCm39) P11L probably damaging Het
Ccdc89 A C 7: 90,076,110 (GRCm39) K107Q probably benign Het
Col27a1 T C 4: 63,249,663 (GRCm39) probably benign Het
Col5a2 T C 1: 45,424,225 (GRCm39) D1067G probably damaging Het
Col9a2 A T 4: 120,910,389 (GRCm39) R511S probably benign Het
Disp3 G A 4: 148,333,658 (GRCm39) S1060F possibly damaging Het
Dusp8 T C 7: 141,636,667 (GRCm39) T308A probably benign Het
Ern1 T C 11: 106,314,266 (GRCm39) N178S probably damaging Het
Gas6 C A 8: 13,527,136 (GRCm39) C204F probably damaging Het
Gga1 T C 15: 78,777,522 (GRCm39) S558P possibly damaging Het
Gli1 T C 10: 127,168,279 (GRCm39) T525A probably benign Het
Gse1 A G 8: 121,304,808 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,532,958 (GRCm39) S3075L probably benign Het
Hnf4a G A 2: 163,408,037 (GRCm39) probably benign Het
Htt A T 5: 35,034,097 (GRCm39) E1894D probably damaging Het
Kcnh8 G A 17: 53,263,650 (GRCm39) E716K probably benign Het
Kntc1 A G 5: 123,937,874 (GRCm39) Y1524C probably damaging Het
Krtap9-5 A G 11: 99,839,931 (GRCm39) T211A unknown Het
Lin54 T C 5: 100,628,180 (GRCm39) I8V possibly damaging Het
Lipe A G 7: 25,082,760 (GRCm39) probably benign Het
Lpin2 T A 17: 71,545,678 (GRCm39) V508E probably damaging Het
Lrrc9 C A 12: 72,500,923 (GRCm39) H216Q probably damaging Het
Lrrn1 T C 6: 107,544,709 (GRCm39) L169P probably damaging Het
Map9 C A 3: 82,284,428 (GRCm39) T334K possibly damaging Het
Msantd5f1 G A 4: 73,605,602 (GRCm39) A338T probably damaging Het
Mst1 A T 9: 107,961,841 (GRCm39) probably null Het
Mtor T A 4: 148,549,421 (GRCm39) F602I probably benign Het
Mylpf T A 7: 126,812,798 (GRCm39) D98E probably benign Het
Naca C A 10: 127,883,551 (GRCm39) Q2059K probably damaging Het
Nefh G A 11: 4,891,356 (GRCm39) T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 (GRCm38) noncoding transcript Het
Npat C T 9: 53,482,341 (GRCm39) Q1350* probably null Het
Oaz3 T C 3: 94,342,287 (GRCm39) N123S probably benign Het
Patj A G 4: 98,299,410 (GRCm39) probably benign Het
Piezo1 A C 8: 123,210,258 (GRCm39) D2224E probably damaging Het
Pnpla7 A T 2: 24,905,241 (GRCm39) I610F possibly damaging Het
Psapl1 A T 5: 36,362,233 (GRCm39) D275V probably damaging Het
Ptpdc1 T A 13: 48,744,095 (GRCm39) probably benign Het
Rac2 T C 15: 78,454,947 (GRCm39) E31G possibly damaging Het
Sdhc T C 1: 170,971,124 (GRCm39) probably benign Het
Smim23 G T 11: 32,770,667 (GRCm39) P80T probably damaging Het
Snupn C T 9: 56,864,364 (GRCm39) T21I probably benign Het
Tjp2 A G 19: 24,073,996 (GRCm39) V1097A probably benign Het
Ttc16 A G 2: 32,661,939 (GRCm39) Y164H probably damaging Het
Txlnb A G 10: 17,703,730 (GRCm39) E296G probably damaging Het
Ube2l6 G A 2: 84,633,195 (GRCm39) V34M probably damaging Het
Vwf A C 6: 125,592,931 (GRCm39) S764R possibly damaging Het
Zfand3 A G 17: 30,411,611 (GRCm39) S146G probably benign Het
Zfp280d T G 9: 72,203,307 (GRCm39) F18L probably benign Het
Other mutations in Pgap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Pgap6 APN 17 26,336,493 (GRCm39) missense probably damaging 0.96
IGL01014:Pgap6 APN 17 26,335,983 (GRCm39) unclassified probably benign
IGL02167:Pgap6 APN 17 26,338,045 (GRCm39) missense probably damaging 1.00
IGL02375:Pgap6 APN 17 26,338,473 (GRCm39) missense probably benign 0.05
IGL02892:Pgap6 APN 17 26,338,094 (GRCm39) missense probably damaging 1.00
IGL03005:Pgap6 APN 17 26,337,911 (GRCm39) missense probably benign 0.01
IGL03124:Pgap6 APN 17 26,335,808 (GRCm39) missense probably damaging 0.98
IGL03046:Pgap6 UTSW 17 26,338,414 (GRCm39) splice site probably null
R0551:Pgap6 UTSW 17 26,339,576 (GRCm39) missense probably damaging 1.00
R0555:Pgap6 UTSW 17 26,336,088 (GRCm39) missense probably benign 0.19
R1502:Pgap6 UTSW 17 26,339,290 (GRCm39) missense possibly damaging 0.82
R1593:Pgap6 UTSW 17 26,337,381 (GRCm39) missense possibly damaging 0.63
R1688:Pgap6 UTSW 17 26,337,882 (GRCm39) missense possibly damaging 0.94
R1829:Pgap6 UTSW 17 26,341,194 (GRCm39) missense probably damaging 1.00
R2071:Pgap6 UTSW 17 26,341,017 (GRCm39) missense probably damaging 1.00
R2117:Pgap6 UTSW 17 26,336,858 (GRCm39) missense possibly damaging 0.67
R3609:Pgap6 UTSW 17 26,337,860 (GRCm39) missense probably benign 0.23
R3610:Pgap6 UTSW 17 26,337,860 (GRCm39) missense probably benign 0.23
R4564:Pgap6 UTSW 17 26,336,837 (GRCm39) missense possibly damaging 0.80
R4749:Pgap6 UTSW 17 26,335,757 (GRCm39) missense probably damaging 1.00
R4777:Pgap6 UTSW 17 26,340,515 (GRCm39) missense probably damaging 1.00
R4913:Pgap6 UTSW 17 26,339,513 (GRCm39) missense probably damaging 1.00
R5098:Pgap6 UTSW 17 26,337,902 (GRCm39) missense probably damaging 1.00
R5126:Pgap6 UTSW 17 26,340,614 (GRCm39) missense probably damaging 0.99
R5640:Pgap6 UTSW 17 26,337,846 (GRCm39) missense possibly damaging 0.50
R5722:Pgap6 UTSW 17 26,339,536 (GRCm39) frame shift probably null
R5723:Pgap6 UTSW 17 26,339,536 (GRCm39) frame shift probably null
R5739:Pgap6 UTSW 17 26,339,425 (GRCm39) missense probably damaging 1.00
R5927:Pgap6 UTSW 17 26,340,972 (GRCm39) missense probably benign 0.34
R6587:Pgap6 UTSW 17 26,340,538 (GRCm39) missense probably benign 0.03
R6723:Pgap6 UTSW 17 26,339,610 (GRCm39) missense probably damaging 0.96
R7588:Pgap6 UTSW 17 26,341,017 (GRCm39) missense probably damaging 1.00
R7621:Pgap6 UTSW 17 26,336,865 (GRCm39) missense probably benign 0.00
R7653:Pgap6 UTSW 17 26,339,423 (GRCm39) missense probably damaging 1.00
R7771:Pgap6 UTSW 17 26,341,047 (GRCm39) missense probably damaging 1.00
R8037:Pgap6 UTSW 17 26,336,509 (GRCm39) missense possibly damaging 0.63
R8493:Pgap6 UTSW 17 26,340,931 (GRCm39) missense probably damaging 1.00
R8956:Pgap6 UTSW 17 26,339,374 (GRCm39) missense possibly damaging 0.89
R9048:Pgap6 UTSW 17 26,340,515 (GRCm39) missense probably damaging 1.00
R9574:Pgap6 UTSW 17 26,337,861 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18