Incidental Mutation 'IGL00087:Pitpnc1'
ID 1111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitpnc1
Ensembl Gene ENSMUSG00000040430
Gene Name phosphatidylinositol transfer protein, cytoplasmic 1
Synonyms RDGBB1, 1110020B03Rik, 5830436L09Rik, C330017I21Rik, RDGB-BETA
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL00087
Quality Score
Status
Chromosome 11
Chromosomal Location 107207892-107470699 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107212643 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 210 (E210G)
Ref Sequence ENSEMBL: ENSMUSP00000046337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040380] [ENSMUST00000103064]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000040380
AA Change: E210G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046337
Gene: ENSMUSG00000040430
AA Change: E210G

DomainStartEndE-ValueType
Pfam:IP_trans 1 220 6.1e-98 PFAM
low complexity region 230 258 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103064
SMART Domains Protein: ENSMUSP00000099353
Gene: ENSMUSG00000040430

DomainStartEndE-ValueType
Pfam:IP_trans 1 245 9.4e-88 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,679,633 probably benign Het
4930572O03Rik C A 5: 15,656,886 probably benign Het
Actr2 C A 11: 20,094,370 V79L probably benign Het
Ankrd36 A C 11: 5,620,131 Y533S probably benign Het
Btnl1 A T 17: 34,381,117 D198V probably damaging Het
Carmil2 T A 8: 105,691,406 I684N probably benign Het
Ccdc129 T A 6: 55,968,037 L581Q possibly damaging Het
Cdk17 T A 10: 93,226,771 V257D probably damaging Het
Ctsj T G 13: 61,001,418 S271R possibly damaging Het
Cul9 T A 17: 46,525,709 Q1130L probably damaging Het
Daam1 G T 12: 71,942,219 S131I unknown Het
Dab1 G A 4: 104,678,810 V139M probably damaging Het
Dab1 A T 4: 104,678,753 I120F possibly damaging Het
Dnah2 A G 11: 69,492,672 V1142A possibly damaging Het
Dsg1b C T 18: 20,396,476 T326I probably damaging Het
Eif3k A C 7: 28,974,676 probably benign Het
Fam76b T C 9: 13,836,884 V3A possibly damaging Het
Fitm2 A G 2: 163,469,792 V167A probably benign Het
Gfap T A 11: 102,888,718 I418F possibly damaging Het
Gm8857 C T 5: 10,947,838 probably benign Het
Grm5 T C 7: 88,130,781 V1143A probably benign Het
Itpr2 A G 6: 146,397,012 I317T probably damaging Het
Kcnn2 A C 18: 45,592,236 R266S probably damaging Het
Kntc1 T A 5: 123,790,159 S1240T probably benign Het
Lmnb2 T C 10: 80,904,037 D490G possibly damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr401 A T 11: 74,121,879 I197F probably benign Het
Pax9 A G 12: 56,700,075 N232S probably benign Het
Pdcd6ip A G 9: 113,697,518 S108P possibly damaging Het
Prdm10 T C 9: 31,360,812 probably benign Het
Prl4a1 G A 13: 28,021,460 G136E probably damaging Het
Pstpip2 A G 18: 77,874,294 S255G probably benign Het
Rimbp3 T G 16: 17,209,743 S344A probably benign Het
Rint1 A G 5: 23,794,431 T73A probably benign Het
Rnf145 T C 11: 44,555,212 V291A possibly damaging Het
Rrm1 T A 7: 102,454,507 L221* probably null Het
Scn11a A G 9: 119,770,506 L1114P probably benign Het
Slc44a4 A G 17: 34,930,240 probably benign Het
Sorl1 A C 9: 41,974,094 N2070K probably damaging Het
Spaca7 C T 8: 12,580,941 probably benign Het
Srsf6 G T 2: 162,931,707 V13F probably damaging Het
Stab1 G T 14: 31,161,357 T336N probably benign Het
Strbp A G 2: 37,586,504 probably benign Het
Tbc1d4 A G 14: 101,608,112 F117L probably damaging Het
Tcf20 A G 15: 82,854,895 V785A probably damaging Het
Ticrr A G 7: 79,677,283 K580E probably damaging Het
Ubr4 A T 4: 139,465,322 E4225D possibly damaging Het
Uck1 A T 2: 32,259,669 V66D probably damaging Het
Vmn2r25 A G 6: 123,853,171 F7S probably benign Het
Zan C T 5: 137,387,820 probably null Het
Zfp819 T A 7: 43,611,979 probably benign Het
Other mutations in Pitpnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Pitpnc1 APN 11 107296233 missense probably damaging 1.00
IGL03123:Pitpnc1 APN 11 107337411 critical splice donor site probably null
R1674:Pitpnc1 UTSW 11 107226245 missense possibly damaging 0.81
R2147:Pitpnc1 UTSW 11 107212518 missense probably damaging 0.98
R3082:Pitpnc1 UTSW 11 107212524 missense possibly damaging 0.95
R3857:Pitpnc1 UTSW 11 107320805 splice site probably null
R4449:Pitpnc1 UTSW 11 107216709 missense probably benign 0.01
R5044:Pitpnc1 UTSW 11 107296228 missense possibly damaging 0.90
R5076:Pitpnc1 UTSW 11 107296267 missense probably damaging 1.00
R5729:Pitpnc1 UTSW 11 107337438 missense probably benign 0.00
R6267:Pitpnc1 UTSW 11 107226266 missense probably damaging 1.00
R6296:Pitpnc1 UTSW 11 107226266 missense probably damaging 1.00
R6597:Pitpnc1 UTSW 11 107226232 nonsense probably null
R7411:Pitpnc1 UTSW 11 107212572 missense probably damaging 0.99
R8804:Pitpnc1 UTSW 11 107212605 missense probably damaging 1.00
Posted On 2011-07-12