Incidental Mutation 'R2086:Golm1'
ID 230017
Institutional Source Beutler Lab
Gene Symbol Golm1
Ensembl Gene ENSMUSG00000021556
Gene Name golgi membrane protein 1
Synonyms 2310001L02Rik, GP73, PSEC0257, D030064E01Rik, Golph2
MMRRC Submission 040091-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2086 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 59634626-59675811 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 59645185 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 169 (Q169*)
Ref Sequence ENSEMBL: ENSMUSP00000093410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022039] [ENSMUST00000095739]
AlphaFold Q91XA2
Predicted Effect probably null
Transcript: ENSMUST00000022039
AA Change: Q169*
SMART Domains Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: Q169*

transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000095739
AA Change: Q169*
SMART Domains Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: Q169*

transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225333
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,595 (GRCm38) M53T unknown Het
Abcb11 T A 2: 69,259,476 (GRCm38) probably benign Het
Acap2 C G 16: 31,110,945 (GRCm38) A432P probably damaging Het
Adamtsl1 A G 4: 86,228,012 (GRCm38) R302G probably damaging Het
Ap2b1 T G 11: 83,351,118 (GRCm38) S608A possibly damaging Het
Atp13a3 T A 16: 30,352,298 (GRCm38) T310S possibly damaging Het
Atp6v1b1 T C 6: 83,757,852 (GRCm38) V382A probably benign Het
Atp6v1g1 T A 4: 63,550,067 (GRCm38) F102L probably benign Het
B430306N03Rik T A 17: 48,316,782 (GRCm38) V37D probably damaging Het
Cacna1d T C 14: 30,047,357 (GRCm38) Y1872C possibly damaging Het
Carf T A 1: 60,109,411 (GRCm38) Y54N probably damaging Het
Cct5 T C 15: 31,594,203 (GRCm38) E256G probably damaging Het
Cd5 A G 19: 10,723,256 (GRCm38) S295P probably benign Het
Cenpb T C 2: 131,178,597 (GRCm38) probably benign Het
Cntnap3 A G 13: 64,794,262 (GRCm38) M218T possibly damaging Het
Colec11 C T 12: 28,594,787 (GRCm38) R236H probably damaging Het
Crem T A 18: 3,288,098 (GRCm38) probably benign Het
Csnk2a1 A G 2: 152,254,281 (GRCm38) N58S probably benign Het
Cyp2a4 T G 7: 26,312,308 (GRCm38) M318R probably damaging Het
Dhrs1 T A 14: 55,743,659 (GRCm38) Q98L probably null Het
Dnah11 G T 12: 118,113,871 (GRCm38) Q1296K possibly damaging Het
Doxl2 A G 6: 48,977,602 (GRCm38) E558G probably damaging Het
Edc4 T A 8: 105,888,002 (GRCm38) D105E probably damaging Het
Eid2b C T 7: 28,277,773 (GRCm38) probably benign Het
Exoc1 A T 5: 76,532,846 (GRCm38) K28* probably null Het
Fam114a1 A G 5: 64,980,059 (GRCm38) D115G probably benign Het
Fam151a A T 4: 106,735,563 (GRCm38) probably null Het
Gc T C 5: 89,438,342 (GRCm38) Y313C probably damaging Het
Gdpd1 A G 11: 87,035,268 (GRCm38) Y284H probably benign Het
Gm21957 T A 7: 125,219,706 (GRCm38) noncoding transcript Het
Greb1l T C 18: 10,523,281 (GRCm38) V813A probably damaging Het
Itih1 C T 14: 30,937,843 (GRCm38) A279T probably damaging Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Lama1 T C 17: 67,817,623 (GRCm38) C2893R probably damaging Het
Lama3 T A 18: 12,524,830 (GRCm38) N334K probably benign Het
Loxhd1 A G 18: 77,384,946 (GRCm38) D1053G probably damaging Het
Map3k20 A G 2: 72,398,385 (GRCm38) K316R probably benign Het
Mapre3 A C 5: 30,863,202 (GRCm38) probably null Het
Mfsd7a C T 5: 108,445,621 (GRCm38) R117H probably damaging Het
Mgam T A 6: 40,761,028 (GRCm38) probably null Het
Mical2 A C 7: 112,318,603 (GRCm38) H389P probably benign Het
Mtmr2 A G 9: 13,799,952 (GRCm38) D347G probably damaging Het
Nbeal2 G A 9: 110,634,071 (GRCm38) L1309F probably benign Het
Nid2 G A 14: 19,778,043 (GRCm38) G516S probably benign Het
Nodal A T 10: 61,423,298 (GRCm38) E171D possibly damaging Het
Notch2 T C 3: 98,102,367 (GRCm38) S537P probably damaging Het
Obox6 A G 7: 15,833,607 (GRCm38) L305S probably damaging Het
Obscn T C 11: 59,078,256 (GRCm38) D2715G probably damaging Het
Olfr154 A C 2: 85,663,746 (GRCm38) S229R probably benign Het
Olfr728 T A 14: 50,140,123 (GRCm38) N172I probably damaging Het
Pcca T C 14: 122,686,115 (GRCm38) S404P probably damaging Het
Pcdh10 T C 3: 45,380,471 (GRCm38) S407P probably damaging Het
Plekha5 C A 6: 140,570,318 (GRCm38) probably null Het
Ptdss1 A G 13: 66,953,555 (GRCm38) N72S probably benign Het
Ptprs T C 17: 56,454,984 (GRCm38) I43V probably null Het
Pygm G A 19: 6,391,481 (GRCm38) probably null Het
Rab7 C T 6: 88,012,318 (GRCm38) V57I probably benign Het
Rasl10a A G 11: 5,059,431 (GRCm38) probably null Het
Rergl T C 6: 139,494,834 (GRCm38) T106A probably benign Het
Rnf17 T G 14: 56,483,380 (GRCm38) V1023G probably damaging Het
Rnf25 T A 1: 74,593,967 (GRCm38) R409W probably damaging Het
Rps6ka1 T C 4: 133,872,969 (GRCm38) M1V probably null Het
Rps6ka5 T C 12: 100,619,615 (GRCm38) T140A possibly damaging Het
Sbno2 T A 10: 80,057,856 (GRCm38) I1204F possibly damaging Het
Serpina16 A T 12: 103,675,262 (GRCm38) I68N probably damaging Het
Slc35a5 A G 16: 45,144,265 (GRCm38) S202P probably damaging Het
Slc35g3 G C 11: 69,760,946 (GRCm38) S93W probably damaging Het
Smc1b A G 15: 85,121,851 (GRCm38) probably benign Het
Spag1 T C 15: 36,227,141 (GRCm38) L648P probably damaging Het
Tagap1 T C 17: 6,956,703 (GRCm38) D198G probably benign Het
Tedc2 T C 17: 24,217,900 (GRCm38) E287G probably damaging Het
Tjp1 C A 7: 65,312,921 (GRCm38) R1089S probably damaging Het
Ttc38 T A 15: 85,838,727 (GRCm38) D125E probably benign Het
Uggt1 C T 1: 36,192,414 (GRCm38) R490Q probably null Het
Uroc1 T G 6: 90,344,114 (GRCm38) L224R probably damaging Het
Vmn1r228 A T 17: 20,777,193 (GRCm38) I21N possibly damaging Het
Vmn2r102 T G 17: 19,676,687 (GRCm38) L99V probably damaging Het
Vps13c C T 9: 67,950,289 (GRCm38) S2601F probably benign Het
Zfp462 T C 4: 55,010,830 (GRCm38) L932P probably damaging Het
Other mutations in Golm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Golm1 APN 13 59,649,656 (GRCm38) missense probably damaging 0.99
IGL01327:Golm1 APN 13 59,645,144 (GRCm38) missense possibly damaging 0.95
IGL02348:Golm1 APN 13 59,638,377 (GRCm38) missense probably benign 0.00
R0047:Golm1 UTSW 13 59,645,100 (GRCm38) missense probably benign 0.03
R0047:Golm1 UTSW 13 59,645,100 (GRCm38) missense probably benign 0.03
R0458:Golm1 UTSW 13 59,664,364 (GRCm38) missense probably damaging 0.98
R0989:Golm1 UTSW 13 59,640,183 (GRCm38) missense probably benign 0.01
R1301:Golm1 UTSW 13 59,638,373 (GRCm38) missense probably damaging 0.99
R1804:Golm1 UTSW 13 59,642,389 (GRCm38) critical splice acceptor site probably null
R1905:Golm1 UTSW 13 59,642,251 (GRCm38) missense probably benign 0.04
R1940:Golm1 UTSW 13 59,642,237 (GRCm38) splice site probably benign
R2513:Golm1 UTSW 13 59,642,258 (GRCm38) missense probably benign 0.01
R2887:Golm1 UTSW 13 59,640,230 (GRCm38) missense probably benign 0.00
R3903:Golm1 UTSW 13 59,638,340 (GRCm38) missense probably damaging 1.00
R4154:Golm1 UTSW 13 59,642,353 (GRCm38) missense probably benign 0.01
R5580:Golm1 UTSW 13 59,642,365 (GRCm38) missense probably benign 0.03
R6193:Golm1 UTSW 13 59,645,158 (GRCm38) missense probably benign 0.00
R6418:Golm1 UTSW 13 59,665,561 (GRCm38) missense probably damaging 1.00
R6594:Golm1 UTSW 13 59,664,227 (GRCm38) missense possibly damaging 0.79
R6604:Golm1 UTSW 13 59,638,383 (GRCm38) missense probably damaging 1.00
R6967:Golm1 UTSW 13 59,649,576 (GRCm38) small deletion probably benign
R6968:Golm1 UTSW 13 59,649,576 (GRCm38) small deletion probably benign
R6991:Golm1 UTSW 13 59,649,576 (GRCm38) small deletion probably benign
R6992:Golm1 UTSW 13 59,649,576 (GRCm38) small deletion probably benign
R6993:Golm1 UTSW 13 59,649,576 (GRCm38) small deletion probably benign
R6996:Golm1 UTSW 13 59,642,244 (GRCm38) missense probably benign 0.00
R7576:Golm1 UTSW 13 59,645,106 (GRCm38) missense probably benign 0.00
R7692:Golm1 UTSW 13 59,640,257 (GRCm38) missense probably benign 0.08
R7863:Golm1 UTSW 13 59,649,569 (GRCm38) missense probably damaging 1.00
R7948:Golm1 UTSW 13 59,664,197 (GRCm38) critical splice donor site probably null
R9519:Golm1 UTSW 13 59,645,100 (GRCm38) missense probably benign
R9703:Golm1 UTSW 13 59,649,619 (GRCm38) missense probably benign 0.39
X0026:Golm1 UTSW 13 59,638,313 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-18