Incidental Mutation 'IGL03124:Pitpnb'
ID 410079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitpnb
Ensembl Gene ENSMUSG00000050017
Gene Name phosphatidylinositol transfer protein, beta
Synonyms Pitp beta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03124
Quality Score
Status
Chromosome 5
Chromosomal Location 111478629-111536225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111478696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 6 (E6G)
Ref Sequence ENSEMBL: ENSMUSP00000142732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]
AlphaFold P53811
Predicted Effect probably benign
Transcript: ENSMUST00000086635
AA Change: E6G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: E6G

DomainStartEndE-ValueType
Pfam:IP_trans 2 252 2.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199221
Predicted Effect possibly damaging
Transcript: ENSMUST00000200298
AA Change: E6G

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: E6G

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.9e-145 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded protein catalyzes the transfer of phospholipids (phosphatidylinositol and phosphatidylcholine) between membranes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice die before E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 122,268,449 (GRCm39) probably benign Het
4931414P19Rik A G 14: 54,832,596 (GRCm39) V193A probably benign Het
Acap3 T C 4: 155,989,490 (GRCm39) S645P probably benign Het
Alms1 A G 6: 85,655,401 (GRCm39) I3316V probably benign Het
Apc T G 18: 34,433,038 (GRCm39) H424Q probably damaging Het
Camsap2 A T 1: 136,202,537 (GRCm39) probably null Het
Car13 C T 3: 14,722,000 (GRCm39) P182L possibly damaging Het
Ccdc87 T G 19: 4,891,082 (GRCm39) S525A probably damaging Het
Ces1f T C 8: 94,002,012 (GRCm39) N39D probably benign Het
Cyp2j13 C A 4: 95,950,159 (GRCm39) A281S possibly damaging Het
Cyp4f15 G A 17: 32,904,786 (GRCm39) probably null Het
Fat4 C A 3: 39,035,701 (GRCm39) R3118S possibly damaging Het
Glg1 C T 8: 111,926,803 (GRCm39) V171M probably damaging Het
Hivep1 G T 13: 42,312,380 (GRCm39) G1540V possibly damaging Het
Ighm T C 12: 113,385,258 (GRCm39) D234G unknown Het
Igsf10 T C 3: 59,227,086 (GRCm39) T2196A probably benign Het
Kctd19 T A 8: 106,113,702 (GRCm39) Q657L possibly damaging Het
Klhl40 T A 9: 121,609,751 (GRCm39) I512N probably damaging Het
Lima1 A T 15: 99,694,615 (GRCm39) probably benign Het
Map2k4 A C 11: 65,581,617 (GRCm39) I365S probably damaging Het
Mast4 T A 13: 102,874,753 (GRCm39) K1346N probably damaging Het
Met T A 6: 17,492,077 (GRCm39) F280I probably benign Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Nup214 T C 2: 31,886,452 (GRCm39) F605L probably benign Het
Odr4 A G 1: 150,262,176 (GRCm39) V88A probably benign Het
Or51k1 G T 7: 103,661,001 (GRCm39) Q303K probably benign Het
Or5ae2 T A 7: 84,505,931 (GRCm39) M118K probably damaging Het
Or7e177 T A 9: 20,212,459 (GRCm39) M322K probably benign Het
Pck2 C T 14: 55,782,790 (GRCm39) T373I probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pecr A C 1: 72,316,499 (GRCm39) S69A probably benign Het
Pgap6 G A 17: 26,335,808 (GRCm39) R65Q probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plbd2 A T 5: 120,631,142 (GRCm39) F212I possibly damaging Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scp2 T A 4: 107,921,103 (GRCm39) I36F probably damaging Het
Slc9a4 A G 1: 40,619,895 (GRCm39) T74A probably damaging Het
Spmip6 T C 4: 41,507,287 (GRCm39) N170D possibly damaging Het
St6galnac1 G A 11: 116,666,125 (GRCm39) A35V probably benign Het
Tasor2 A T 13: 3,624,704 (GRCm39) Y1749N probably benign Het
Trav17 T C 14: 54,044,106 (GRCm39) V4A probably benign Het
Vmn1r57 A T 7: 5,224,021 (GRCm39) H182L possibly damaging Het
Vwa8 A T 14: 79,296,255 (GRCm39) probably benign Het
Zgpat A G 2: 181,007,973 (GRCm39) Y170C probably benign Het
Other mutations in Pitpnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Pitpnb APN 5 111,486,222 (GRCm39) missense probably damaging 1.00
IGL02388:Pitpnb APN 5 111,478,699 (GRCm39) missense possibly damaging 0.58
R0349:Pitpnb UTSW 5 111,494,992 (GRCm39) missense possibly damaging 0.74
R4276:Pitpnb UTSW 5 111,519,258 (GRCm39) splice site probably null
R4589:Pitpnb UTSW 5 111,519,214 (GRCm39) missense probably damaging 1.00
R4702:Pitpnb UTSW 5 111,519,218 (GRCm39) missense probably benign 0.00
R4888:Pitpnb UTSW 5 111,530,862 (GRCm39) missense possibly damaging 0.89
R5048:Pitpnb UTSW 5 111,530,869 (GRCm39) missense possibly damaging 0.47
R6154:Pitpnb UTSW 5 111,486,263 (GRCm39) nonsense probably null
R8554:Pitpnb UTSW 5 111,494,372 (GRCm39) missense probably benign 0.00
R9158:Pitpnb UTSW 5 111,530,876 (GRCm39) missense probably damaging 0.98
R9251:Pitpnb UTSW 5 111,533,390 (GRCm39) missense probably benign 0.20
R9353:Pitpnb UTSW 5 111,530,891 (GRCm39) missense probably damaging 1.00
X0022:Pitpnb UTSW 5 111,497,406 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02