Incidental Mutation 'R2513:Golm1'
ID 253683
Institutional Source Beutler Lab
Gene Symbol Golm1
Ensembl Gene ENSMUSG00000021556
Gene Name golgi membrane protein 1
Synonyms Golph2, 2310001L02Rik, D030064E01Rik, PSEC0257, GP73
MMRRC Submission 040419-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2513 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 59782810-59823598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59790072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 243 (P243S)
Ref Sequence ENSEMBL: ENSMUSP00000093410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022039] [ENSMUST00000095739]
AlphaFold Q91XA2
Predicted Effect probably benign
Transcript: ENSMUST00000022039
AA Change: P243S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: P243S

transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095739
AA Change: P243S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: P243S

transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225333
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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 type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased premature lethality with kidney abnormalities and liver steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,809 (GRCm39) T719A possibly damaging Het
Abcc1 A G 16: 14,290,873 (GRCm39) probably null Het
Aftph C T 11: 20,658,676 (GRCm39) probably null Het
Als2 C A 1: 59,254,276 (GRCm39) K360N probably benign Het
Atg2a T A 19: 6,308,076 (GRCm39) probably null Het
Axl T C 7: 25,486,941 (GRCm39) D22G probably benign Het
Baiap2 G A 11: 119,890,052 (GRCm39) A438T probably benign Het
Bean1 G C 8: 104,908,643 (GRCm39) A7P probably benign Het
Birc6 C G 17: 74,954,724 (GRCm39) P3431R probably damaging Het
Camk1d A G 2: 5,719,047 (GRCm39) M1T probably null Het
Carmil3 T C 14: 55,741,295 (GRCm39) Y1027H probably damaging Het
Ccdc6 G A 10: 70,023,658 (GRCm39) probably benign Het
Cemip C A 7: 83,591,233 (GRCm39) V1280L probably benign Het
Cfap58 C A 19: 47,950,981 (GRCm39) N447K probably benign Het
Chd3 A G 11: 69,251,471 (GRCm39) L520P probably damaging Het
Col1a2 T A 6: 4,531,223 (GRCm39) probably null Het
Cpne7 A C 8: 123,844,406 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,723 (GRCm39) V84A probably damaging Het
Dap3 A G 3: 88,835,565 (GRCm39) V263A probably benign Het
Dhx57 T A 17: 80,549,378 (GRCm39) probably null Het
Dlg5 C A 14: 24,214,593 (GRCm39) K663N probably damaging Het
Dsg3 C A 18: 20,656,719 (GRCm39) F196L possibly damaging Het
Eif2ak4 C A 2: 118,257,064 (GRCm39) D402E probably damaging Het
Fance T C 17: 28,537,068 (GRCm39) V24A probably benign Het
Fasn A T 11: 120,705,574 (GRCm39) L1149Q probably damaging Het
Fcgbpl1 C G 7: 27,831,060 (GRCm39) S91C probably damaging Het
Flg T A 3: 93,187,093 (GRCm39) S182T possibly damaging Het
Gm128 T A 3: 95,147,293 (GRCm39) S334C possibly damaging Het
Gm3727 A C 14: 7,264,561 (GRCm38) H31Q probably damaging Het
Gm4841 T G 18: 60,403,977 (GRCm39) T39P probably damaging Het
Golgb1 G T 16: 36,735,513 (GRCm39) V1587L possibly damaging Het
Gstcd C A 3: 132,788,081 (GRCm39) A206S possibly damaging Het
Gstcd C A 3: 132,788,082 (GRCm39) K205N possibly damaging Het
Gtf3c1 A G 7: 125,280,345 (GRCm39) V355A probably benign Het
Hhatl T C 9: 121,618,236 (GRCm39) D173G probably benign Het
Kcnu1 T A 8: 26,395,994 (GRCm39) C660S probably benign Het
Kctd8 T C 5: 69,267,988 (GRCm39) D374G probably benign Het
Kif21a T C 15: 90,878,594 (GRCm39) I229V possibly damaging Het
L3mbtl1 A T 2: 162,809,505 (GRCm39) I702F probably benign Het
Lce1d T C 3: 92,593,066 (GRCm39) probably benign Het
Lrig1 C T 6: 94,594,347 (GRCm39) probably null Het
Lrp12 A T 15: 39,739,507 (GRCm39) D563E probably damaging Het
Lrp2 C T 2: 69,336,718 (GRCm39) probably null Het
Map3k5 G A 10: 19,970,201 (GRCm39) V703I possibly damaging Het
Mecr A G 4: 131,581,076 (GRCm39) R110G probably benign Het
Mtrr T A 13: 68,715,092 (GRCm39) K445* probably null Het
Nanos1 T A 19: 60,744,990 (GRCm39) L96Q probably benign Het
Or13a24 T G 7: 140,154,069 (GRCm39) M1R probably null Het
Or51t4 T A 7: 102,598,700 (GRCm39) F333I probably benign Het
Or6c214 T A 10: 129,591,021 (GRCm39) L99F probably damaging Het
Otog T C 7: 45,955,014 (GRCm39) probably null Het
Pcdhb3 G T 18: 37,434,294 (GRCm39) V87F probably benign Het
Pcdhb3 T A 18: 37,434,292 (GRCm39) L86* probably null Het
Pcdhb3 A T 18: 37,434,293 (GRCm39) L86F probably damaging Het
Pdgfd A G 9: 6,359,894 (GRCm39) K322E probably damaging Het
Picalm T C 7: 89,846,217 (GRCm39) S648P probably damaging Het
Pigr T C 1: 130,774,357 (GRCm39) S446P possibly damaging Het
Pik3cb A C 9: 98,943,895 (GRCm39) L636W probably damaging Het
Pla2g2f A T 4: 138,481,473 (GRCm39) L92Q probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prkar2b C T 12: 32,025,928 (GRCm39) V191I possibly damaging Het
Prune1 C A 3: 95,165,430 (GRCm39) A281S probably benign Het
Ptges3l A T 11: 101,314,868 (GRCm39) C42S possibly damaging Het
Reg3b A T 6: 78,348,802 (GRCm39) I33L probably benign Het
Rel A G 11: 23,695,823 (GRCm39) I188T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor1 G T 8: 106,344,254 (GRCm39) V463L probably benign Het
Rrm1 T A 7: 102,109,896 (GRCm39) D510E probably damaging Het
Setd7 A G 3: 51,440,436 (GRCm39) S202P probably damaging Het
Shank3 T A 15: 89,432,889 (GRCm39) D1211E probably benign Het
Slc30a1 A T 1: 191,639,674 (GRCm39) T186S possibly damaging Het
Slc4a4 G A 5: 89,304,257 (GRCm39) V523I probably benign Het
Slc9a2 T A 1: 40,781,768 (GRCm39) probably null Het
Smg6 A G 11: 74,820,502 (GRCm39) T258A probably damaging Het
Sptlc1 C T 13: 53,491,676 (GRCm39) D408N possibly damaging Het
Tasor2 G T 13: 3,632,150 (GRCm39) L784I possibly damaging Het
Tbl3 T C 17: 24,923,524 (GRCm39) probably null Het
Tdo2 T C 3: 81,876,812 (GRCm39) D139G possibly damaging Het
Ticam1 T A 17: 56,578,612 (GRCm39) H161L possibly damaging Het
Tnfaip3 T A 10: 18,881,407 (GRCm39) D293V probably benign Het
Trim72 G A 7: 127,603,878 (GRCm39) V75M possibly damaging Het
Trip11 T A 12: 101,803,986 (GRCm39) N1632I possibly damaging Het
Tspan18 A T 2: 93,050,440 (GRCm39) M61K possibly damaging Het
Tuba8 A T 6: 121,202,932 (GRCm39) E415V probably damaging Het
Ung A G 5: 114,275,253 (GRCm39) H214R probably benign Het
Uqcrc1 T C 9: 108,765,836 (GRCm39) L17P probably damaging Het
Usp24 A G 4: 106,236,602 (GRCm39) probably null Het
Vps39 A C 2: 120,169,268 (GRCm39) Y245D probably damaging Het
Whrn T A 4: 63,353,649 (GRCm39) T373S probably benign Het
Zc2hc1a C T 3: 7,581,596 (GRCm39) probably null Het
Other mutations in Golm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Golm1 APN 13 59,797,470 (GRCm39) missense probably damaging 0.99
IGL01327:Golm1 APN 13 59,792,958 (GRCm39) missense possibly damaging 0.95
IGL02348:Golm1 APN 13 59,786,191 (GRCm39) missense probably benign 0.00
R0047:Golm1 UTSW 13 59,792,914 (GRCm39) missense probably benign 0.03
R0047:Golm1 UTSW 13 59,792,914 (GRCm39) missense probably benign 0.03
R0458:Golm1 UTSW 13 59,812,178 (GRCm39) missense probably damaging 0.98
R0989:Golm1 UTSW 13 59,787,997 (GRCm39) missense probably benign 0.01
R1301:Golm1 UTSW 13 59,786,187 (GRCm39) missense probably damaging 0.99
R1804:Golm1 UTSW 13 59,790,203 (GRCm39) critical splice acceptor site probably null
R1905:Golm1 UTSW 13 59,790,065 (GRCm39) missense probably benign 0.04
R1940:Golm1 UTSW 13 59,790,051 (GRCm39) splice site probably benign
R2086:Golm1 UTSW 13 59,792,999 (GRCm39) nonsense probably null
R2887:Golm1 UTSW 13 59,788,044 (GRCm39) missense probably benign 0.00
R3903:Golm1 UTSW 13 59,786,154 (GRCm39) missense probably damaging 1.00
R4154:Golm1 UTSW 13 59,790,167 (GRCm39) missense probably benign 0.01
R5580:Golm1 UTSW 13 59,790,179 (GRCm39) missense probably benign 0.03
R6193:Golm1 UTSW 13 59,792,972 (GRCm39) missense probably benign 0.00
R6418:Golm1 UTSW 13 59,813,375 (GRCm39) missense probably damaging 1.00
R6594:Golm1 UTSW 13 59,812,041 (GRCm39) missense possibly damaging 0.79
R6604:Golm1 UTSW 13 59,786,197 (GRCm39) missense probably damaging 1.00
R6967:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6968:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6991:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6992:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6993:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6996:Golm1 UTSW 13 59,790,058 (GRCm39) missense probably benign 0.00
R7576:Golm1 UTSW 13 59,792,920 (GRCm39) missense probably benign 0.00
R7692:Golm1 UTSW 13 59,788,071 (GRCm39) missense probably benign 0.08
R7863:Golm1 UTSW 13 59,797,383 (GRCm39) missense probably damaging 1.00
R7948:Golm1 UTSW 13 59,812,011 (GRCm39) critical splice donor site probably null
R9519:Golm1 UTSW 13 59,792,914 (GRCm39) missense probably benign
R9703:Golm1 UTSW 13 59,797,433 (GRCm39) missense probably benign 0.39
X0026:Golm1 UTSW 13 59,786,127 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-04