Incidental Mutation 'IGL01672:Golph3'
ID 103507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golph3
Ensembl Gene ENSMUSG00000022200
Gene Name golgi phosphoprotein 3
Synonyms 5730410D03Rik, 4733401N08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01672
Quality Score
Status
Chromosome 15
Chromosomal Location 12321536-12351677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12349643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000057375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059680] [ENSMUST00000226517] [ENSMUST00000228671]
AlphaFold Q9CRA5
Predicted Effect probably benign
Transcript: ENSMUST00000059680
AA Change: V221A

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057375
Gene: ENSMUSG00000022200
AA Change: V221A

DomainStartEndE-ValueType
Pfam:GPP34 62 288 8.7e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226517
Predicted Effect probably benign
Transcript: ENSMUST00000228671
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,316 (GRCm39) E203G probably damaging Het
Ano1 G T 7: 144,209,412 (GRCm39) Q206K probably damaging Het
Ap4e1 T A 2: 126,894,109 (GRCm39) S620T probably damaging Het
Arfip1 A T 3: 84,455,339 (GRCm39) probably benign Het
Atp8a2 A T 14: 59,928,982 (GRCm39) M1024K probably benign Het
Brap T C 5: 121,816,908 (GRCm39) probably benign Het
Calcrl T A 2: 84,175,414 (GRCm39) T287S probably damaging Het
Clptm1l G A 13: 73,755,992 (GRCm39) probably null Het
Cpb1 T A 3: 20,329,585 (GRCm39) Q47L probably null Het
Cse1l T C 2: 166,771,887 (GRCm39) I402T probably damaging Het
Dnah17 A G 11: 117,932,986 (GRCm39) S3591P probably damaging Het
Dst T G 1: 34,264,774 (GRCm39) I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 (GRCm39) R2194* probably null Het
Ecpas A G 4: 58,814,041 (GRCm39) V1355A probably benign Het
Eno4 A G 19: 58,931,977 (GRCm39) N30S possibly damaging Het
Ero1a A C 14: 45,529,887 (GRCm39) S349A probably benign Het
Fat1 C T 8: 45,493,737 (GRCm39) T3938I probably benign Het
Focad T C 4: 88,278,827 (GRCm39) probably null Het
Gnai3 A T 3: 108,016,775 (GRCm39) I343N probably damaging Het
Gpr153 C A 4: 152,364,370 (GRCm39) S142* probably null Het
Itpr1 C A 6: 108,357,993 (GRCm39) Y557* probably null Het
Nat8f5 A G 6: 85,794,934 (GRCm39) Y9H probably damaging Het
Nbas T C 12: 13,429,650 (GRCm39) V1045A possibly damaging Het
Nol8 T C 13: 49,828,883 (GRCm39) V1047A possibly damaging Het
Or2t48 A C 11: 58,419,948 (GRCm39) L288R probably benign Het
Or5p1 T A 7: 107,916,725 (GRCm39) V208E probably benign Het
Osbpl1a G A 18: 12,899,881 (GRCm39) T178I probably damaging Het
Palld T A 8: 62,330,536 (GRCm39) I114F probably benign Het
Pcca A T 14: 122,927,557 (GRCm39) Y440F probably benign Het
Pclo T C 5: 14,728,549 (GRCm39) probably benign Het
Piwil1 T C 5: 128,827,037 (GRCm39) M599T possibly damaging Het
Pkd1l2 T A 8: 117,807,471 (GRCm39) Y189F possibly damaging Het
Plscr3 A G 11: 69,738,508 (GRCm39) K91R possibly damaging Het
Rars1 A T 11: 35,699,380 (GRCm39) C638S probably damaging Het
Relb T A 7: 19,345,619 (GRCm39) H406L probably benign Het
Ros1 G T 10: 51,977,899 (GRCm39) T1449K possibly damaging Het
Samd3 A T 10: 26,146,067 (GRCm39) N364I possibly damaging Het
Scn2a T A 2: 65,582,278 (GRCm39) I1542N probably damaging Het
Sdk1 T A 5: 142,170,930 (GRCm39) M1931K probably benign Het
Sphk2 T C 7: 45,361,077 (GRCm39) D309G possibly damaging Het
Stil T C 4: 114,889,986 (GRCm39) S825P probably damaging Het
Swt1 C T 1: 151,270,359 (GRCm39) probably null Het
Virma C T 4: 11,527,792 (GRCm39) R1228C probably damaging Het
Xirp2 T A 2: 67,338,846 (GRCm39) H362Q probably benign Het
Zfp451 C A 1: 33,801,247 (GRCm39) M1056I probably benign Het
Zfp458 T A 13: 67,405,300 (GRCm39) M380L probably benign Het
Other mutations in Golph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Golph3 APN 15 12,339,757 (GRCm39) missense probably damaging 1.00
IGL02232:Golph3 APN 15 12,349,578 (GRCm39) missense probably benign 0.03
IGL02567:Golph3 APN 15 12,349,507 (GRCm39) nonsense probably null
IGL02746:Golph3 APN 15 12,349,501 (GRCm39) missense probably damaging 1.00
IGL02981:Golph3 APN 15 12,349,550 (GRCm39) missense probably benign 0.23
ephemeral UTSW 15 12,339,756 (GRCm39) missense probably damaging 1.00
R0035:Golph3 UTSW 15 12,339,776 (GRCm39) missense probably damaging 1.00
R2363:Golph3 UTSW 15 12,349,649 (GRCm39) missense probably benign
R5551:Golph3 UTSW 15 12,321,922 (GRCm39) missense probably benign 0.23
R5895:Golph3 UTSW 15 12,339,756 (GRCm39) missense probably damaging 1.00
R7527:Golph3 UTSW 15 12,343,404 (GRCm39) splice site probably null
Posted On 2014-01-21