Incidental Mutation 'IGL02981:Golph3'
ID 406538
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 # IGL02981
Quality Score
Status
Chromosome 15
Chromosomal Location 12321536-12351677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12349550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 190 (E190G)
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: E190G

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057375
Gene: ENSMUSG00000022200
AA Change: E190G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A G 2: 150,675,044 (GRCm39) S392P probably benign Het
Adam23 G A 1: 63,610,112 (GRCm39) V705I probably damaging Het
Ank2 T G 3: 126,728,211 (GRCm39) D794A possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aqr T C 2: 113,965,305 (GRCm39) probably benign Het
Atp9b A G 18: 80,797,504 (GRCm39) V857A possibly damaging Het
Banp T C 8: 122,705,303 (GRCm39) Y58H possibly damaging Het
Cacna1e T A 1: 154,347,171 (GRCm39) N999Y probably benign Het
Cd14 T C 18: 36,859,532 (GRCm39) probably benign Het
Crmp1 T C 5: 37,443,770 (GRCm39) I447T probably damaging Het
Dip2a A G 10: 76,112,255 (GRCm39) V1090A possibly damaging Het
Ep400 T A 5: 110,903,969 (GRCm39) H210L possibly damaging Het
Ep400 T A 5: 110,839,476 (GRCm39) probably benign Het
Fam243 T C 16: 92,117,757 (GRCm39) N177S probably benign Het
Fbxw26 A G 9: 109,573,862 (GRCm39) F97L probably benign Het
Fut8 C A 12: 77,521,812 (GRCm39) P484T probably damaging Het
Hectd1 A T 12: 51,815,670 (GRCm39) D1472E possibly damaging Het
Hnrnpdl T C 5: 100,184,958 (GRCm39) I298V possibly damaging Het
Jakmip2 C A 18: 43,695,595 (GRCm39) probably null Het
Kcnj5 G A 9: 32,233,877 (GRCm39) T146I probably damaging Het
Lyst T G 13: 13,809,496 (GRCm39) F389V probably damaging Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Myo3b T C 2: 69,938,969 (GRCm39) V114A probably damaging Het
Or10a2 C A 7: 106,673,758 (GRCm39) T241N probably damaging Het
Pappa2 C T 1: 158,678,714 (GRCm39) G901R probably benign Het
Patz1 T C 11: 3,240,656 (GRCm39) Y15H probably damaging Het
Pdp2 T C 8: 105,320,267 (GRCm39) W39R probably benign Het
Poc5 T C 13: 96,538,265 (GRCm39) probably null Het
Pou3f1 A G 4: 124,552,236 (GRCm39) D246G probably damaging Het
Pramel5 T A 4: 143,999,430 (GRCm39) Y219F probably benign Het
Prrc2c C T 1: 162,532,748 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,676,670 (GRCm39) K678E probably damaging Het
Rps2 T C 17: 24,940,698 (GRCm39) F271L probably benign Het
Serpina3k C A 12: 104,307,250 (GRCm39) Q161K probably benign Het
Serpinb6b A G 13: 33,155,589 (GRCm39) T101A probably benign Het
Tprkb T A 6: 85,904,861 (GRCm39) D112E probably benign Het
Tubal3 A G 13: 3,983,257 (GRCm39) T346A probably benign Het
Vwde A G 6: 13,193,112 (GRCm39) F409S possibly damaging Het
Zbtb6 G A 2: 37,319,176 (GRCm39) Q251* probably null Het
Other mutations in Golph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Golph3 APN 15 12,339,757 (GRCm39) missense probably damaging 1.00
IGL01672:Golph3 APN 15 12,349,643 (GRCm39) missense probably benign 0.35
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
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 2016-08-02