Incidental Mutation 'IGL02746:Golph3'
ID 306038
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 # IGL02746
Quality Score
Status
Chromosome 15
Chromosomal Location 12321536-12351677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12349501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 174 (R174W)
Ref Sequence ENSEMBL: ENSMUSP00000057375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059680] [ENSMUST00000226517] [ENSMUST00000228671]
AlphaFold Q9CRA5
Predicted Effect probably damaging
Transcript: ENSMUST00000059680
AA Change: R174W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057375
Gene: ENSMUSG00000022200
AA Change: R174W

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,646,462 (GRCm39) probably benign Het
Adck5 A T 15: 76,473,354 (GRCm39) M68L probably benign Het
Aox3 T C 1: 58,222,701 (GRCm39) S1165P possibly damaging Het
Arhgap23 A G 11: 97,345,030 (GRCm39) probably benign Het
Brdt T C 5: 107,518,190 (GRCm39) L771P probably benign Het
Ccdc134 T A 15: 82,015,938 (GRCm39) probably benign Het
Cdc42bpa T A 1: 179,939,312 (GRCm39) D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,861,047 (GRCm39) T106A probably damaging Het
Cox10 G A 11: 63,855,357 (GRCm39) probably benign Het
Cubn C A 2: 13,449,851 (GRCm39) C891F probably damaging Het
Cyb5rl A G 4: 106,925,836 (GRCm39) E6G probably benign Het
Dhrs2 T C 14: 55,478,628 (GRCm39) S258P probably damaging Het
Dnah10 T C 5: 124,807,150 (GRCm39) L145P possibly damaging Het
Epc1 A G 18: 6,454,317 (GRCm39) I129T probably benign Het
Gkn3 A G 6: 87,364,339 (GRCm39) probably benign Het
Gls2 A G 10: 128,036,825 (GRCm39) D202G probably damaging Het
Gm45844 A G 7: 7,243,178 (GRCm39) F24S probably damaging Het
Gpatch4 A C 3: 87,961,698 (GRCm39) E119A possibly damaging Het
Hemgn A G 4: 46,400,740 (GRCm39) L40P probably damaging Het
Ifi27l2b A T 12: 103,417,493 (GRCm39) D231E unknown Het
Klf12 T C 14: 100,137,656 (GRCm39) I297V probably benign Het
Lzts3 T C 2: 130,478,261 (GRCm39) N165S probably damaging Het
Nlrp4e G A 7: 23,021,264 (GRCm39) V584I probably benign Het
Npas4 T C 19: 5,036,695 (GRCm39) T490A probably damaging Het
Pikfyve C A 1: 65,273,431 (GRCm39) H615Q probably damaging Het
Plce1 T A 19: 38,686,916 (GRCm39) L608Q probably damaging Het
Pou2f3 T G 9: 43,058,143 (GRCm39) Q67H probably benign Het
Rev3l T C 10: 39,700,585 (GRCm39) L1694P probably damaging Het
Rpl4 A G 9: 64,082,932 (GRCm39) T117A probably benign Het
Scn5a T C 9: 119,379,703 (GRCm39) N194D probably damaging Het
Sec16b T A 1: 157,373,859 (GRCm39) probably benign Het
Slc12a5 A T 2: 164,816,836 (GRCm39) M97L probably benign Het
Stard13 A G 5: 150,970,322 (GRCm39) probably benign Het
Stau1 A C 2: 166,796,818 (GRCm39) probably null Het
Thg1l A T 11: 45,839,054 (GRCm39) C219* probably null Het
Togaram1 G T 12: 65,013,270 (GRCm39) E174* probably null Het
Vmn1r237 T C 17: 21,534,480 (GRCm39) S68P possibly damaging Het
Vmn2r3 A T 3: 64,167,239 (GRCm39) S631T possibly damaging 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
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 2015-04-16