Incidental Mutation 'IGL02348:Golm1'
ID 289356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golm1
Ensembl Gene ENSMUSG00000021556
Gene Name golgi membrane protein 1
Synonyms 2310001L02Rik, GP73, PSEC0257, D030064E01Rik, Golph2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02348
Quality Score
Status
Chromosome 13
Chromosomal Location 59634626-59675811 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59638377 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 334 (M334L)
Ref Sequence ENSEMBL: ENSMUSP00000093410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022038] [ENSMUST00000022039] [ENSMUST00000095739]
AlphaFold Q91XA2
Predicted Effect probably benign
Transcript: ENSMUST00000022038
SMART Domains Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555

DomainStartEndE-ValueType
Pfam:Mak10 45 145 2.2e-29 PFAM
Pfam:Mak10 141 194 3.7e-10 PFAM
low complexity region 561 568 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022039
AA Change: M334L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: M334L

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095739
AA Change: M334L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: M334L

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172118
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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T C 2: 85,493,296 I298V possibly damaging Het
Akap12 G A 10: 4,354,722 D511N probably damaging Het
Akt3 T A 1: 177,059,386 D299V probably damaging Het
Arfgef3 G A 10: 18,591,347 P2035L probably benign Het
Atp13a3 C T 16: 30,351,228 probably null Het
Capn9 C A 8: 124,594,677 P151T probably damaging Het
Csrnp1 T A 9: 119,972,643 D450V probably damaging Het
Ctrb1 C T 8: 111,687,130 A201T possibly damaging Het
Erp27 T C 6: 136,911,546 T145A probably damaging Het
Fanca A T 8: 123,305,263 L256Q probably damaging Het
Fars2 G A 13: 36,537,380 V433I probably benign Het
Fbxo9 T A 9: 78,109,007 M1L probably benign Het
Fcnb C A 2: 28,084,830 V10F possibly damaging Het
Gad2 C T 2: 22,629,393 H175Y probably damaging Het
Get4 G A 5: 139,252,499 G12D probably benign Het
Gmpr2 T A 14: 55,678,301 I312N probably damaging Het
Itgam T A 7: 128,116,300 F1054L possibly damaging Het
Kcnk7 C A 19: 5,706,473 probably benign Het
Kif3b G A 2: 153,316,893 A205T probably damaging Het
Macf1 C T 4: 123,512,866 V276M probably damaging Het
Mdga2 T A 12: 66,550,575 N715I probably damaging Het
Mfap5 T A 6: 122,526,787 S103R possibly damaging Het
Nckap1 C T 2: 80,517,982 V876M probably damaging Het
Ncor1 A T 11: 62,333,659 probably benign Het
Nfya G A 17: 48,393,276 Q122* probably null Het
Nup210l G A 3: 90,104,164 probably benign Het
Olfr190 T G 16: 59,074,949 I44L probably damaging Het
Pcdhb19 T A 18: 37,498,808 L552Q probably damaging Het
Psmd2 T A 16: 20,654,647 S153T probably benign Het
Ptpn4 T C 1: 119,682,722 Y685C probably damaging Het
Rad54l2 T C 9: 106,720,376 R144G probably damaging Het
S1pr4 A C 10: 81,499,021 Y206* probably null Het
Slc39a14 A G 14: 70,316,436 probably null Het
Stx2 G A 5: 128,988,830 A254V probably damaging Het
Sumf2 G T 5: 129,859,870 G216C probably damaging Het
Tbc1d32 A G 10: 56,224,619 S88P probably benign Het
Trem1 T A 17: 48,232,796 M1K probably null Het
Trmt1l T C 1: 151,450,006 Y401H probably damaging Het
Ttc22 A T 4: 106,622,938 M130L probably damaging Het
Wnk1 T C 6: 119,963,328 E816G probably damaging Het
Wnt9b C T 11: 103,732,082 G165D probably damaging Het
Zscan21 A G 5: 138,133,383 T390A probably damaging Het
Zswim7 G T 11: 62,268,755 C85* probably null Het
Other mutations in Golm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Golm1 APN 13 59649656 missense probably damaging 0.99
IGL01327:Golm1 APN 13 59645144 missense possibly damaging 0.95
R0047:Golm1 UTSW 13 59645100 missense probably benign 0.03
R0047:Golm1 UTSW 13 59645100 missense probably benign 0.03
R0458:Golm1 UTSW 13 59664364 missense probably damaging 0.98
R0989:Golm1 UTSW 13 59640183 missense probably benign 0.01
R1301:Golm1 UTSW 13 59638373 missense probably damaging 0.99
R1804:Golm1 UTSW 13 59642389 critical splice acceptor site probably null
R1905:Golm1 UTSW 13 59642251 missense probably benign 0.04
R1940:Golm1 UTSW 13 59642237 splice site probably benign
R2086:Golm1 UTSW 13 59645185 nonsense probably null
R2513:Golm1 UTSW 13 59642258 missense probably benign 0.01
R2887:Golm1 UTSW 13 59640230 missense probably benign 0.00
R3903:Golm1 UTSW 13 59638340 missense probably damaging 1.00
R4154:Golm1 UTSW 13 59642353 missense probably benign 0.01
R5580:Golm1 UTSW 13 59642365 missense probably benign 0.03
R6193:Golm1 UTSW 13 59645158 missense probably benign 0.00
R6418:Golm1 UTSW 13 59665561 missense probably damaging 1.00
R6594:Golm1 UTSW 13 59664227 missense possibly damaging 0.79
R6604:Golm1 UTSW 13 59638383 missense probably damaging 1.00
R6967:Golm1 UTSW 13 59649576 small deletion probably benign
R6968:Golm1 UTSW 13 59649576 small deletion probably benign
R6991:Golm1 UTSW 13 59649576 small deletion probably benign
R6992:Golm1 UTSW 13 59649576 small deletion probably benign
R6993:Golm1 UTSW 13 59649576 small deletion probably benign
R6996:Golm1 UTSW 13 59642244 missense probably benign 0.00
R7576:Golm1 UTSW 13 59645106 missense probably benign 0.00
R7692:Golm1 UTSW 13 59640257 missense probably benign 0.08
R7863:Golm1 UTSW 13 59649569 missense probably damaging 1.00
R7948:Golm1 UTSW 13 59664197 critical splice donor site probably null
R9519:Golm1 UTSW 13 59645100 missense probably benign
R9703:Golm1 UTSW 13 59649619 missense probably benign 0.39
X0026:Golm1 UTSW 13 59638313 missense probably damaging 1.00
Posted On 2015-04-16