Incidental Mutation 'IGL01116:Golm1'
ID 52583
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 # IGL01116
Quality Score
Status
Chromosome 13
Chromosomal Location 59634626-59675811 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59649656 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 125 (K125R)
Ref Sequence ENSEMBL: ENSMUSP00000093410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022039] [ENSMUST00000095739]
AlphaFold Q91XA2
Predicted Effect probably damaging
Transcript: ENSMUST00000022039
AA Change: K125R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: K125R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095739
AA Change: K125R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: K125R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225333
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,886,176 M951L probably benign Het
Als2 T C 1: 59,186,004 probably benign Het
Arhgap26 T C 18: 39,111,803 V167A probably damaging Het
Bbs1 A G 19: 4,902,839 probably benign Het
Capn11 A T 17: 45,638,880 probably benign Het
Cenpl G T 1: 161,083,287 S268I possibly damaging Het
Coq8b T C 7: 27,239,857 V144A possibly damaging Het
Exo1 T A 1: 175,901,397 C10S possibly damaging Het
Fam193b A T 13: 55,543,453 S203T probably damaging Het
Ggact T C 14: 122,891,755 N16S probably damaging Het
Gm3940 A T 1: 52,090,723 probably benign Het
Gm5458 G T 14: 19,599,692 L155I probably damaging Het
Gpatch4 A G 3: 88,055,005 E175G probably damaging Het
Gria1 A G 11: 57,236,975 N337D probably damaging Het
Gripap1 G A X: 7,812,466 G464D probably benign Het
Grk1 A G 8: 13,405,404 D96G possibly damaging Het
Hsf1 T C 15: 76,498,203 V258A probably benign Het
Ighv7-4 A G 12: 114,223,033 S40P probably damaging Het
Igkv4-50 G A 6: 69,700,937 S61L probably benign Het
Igkv4-62 C T 6: 69,400,051 G38E probably damaging Het
Ints1 T C 5: 139,771,682 D358G probably damaging Het
Madd A G 2: 91,154,543 probably benign Het
Map3k6 A G 4: 133,247,128 S580G probably damaging Het
Myef2 A G 2: 125,098,482 M383T probably damaging Het
Myo3b T C 2: 70,289,386 L930P probably damaging Het
Ndufaf3 C T 9: 108,566,869 R20Q probably benign Het
Npr2 T C 4: 43,640,248 S328P probably damaging Het
Olfr398 A T 11: 73,984,318 C97S probably damaging Het
Olfr725 T A 14: 50,035,050 M118L probably benign Het
Pdpr T C 8: 111,112,710 I155T possibly damaging Het
Phf11b A T 14: 59,323,182 I216K probably benign Het
Phkg1 T C 5: 129,864,972 probably null Het
Pik3r6 A G 11: 68,531,450 Y225C probably benign Het
Plekhh2 A T 17: 84,606,928 D1253V possibly damaging Het
Plppr3 T C 10: 79,866,923 T155A probably damaging Het
Ppp6r2 T C 15: 89,281,989 F732S probably damaging Het
Ryr1 A G 7: 29,100,202 probably benign Het
Slc16a8 T G 15: 79,251,232 S459R probably damaging Het
Slc25a12 A T 2: 71,293,352 probably benign Het
Slc38a2 T C 15: 96,693,185 probably benign Het
Slit1 C A 19: 41,606,385 W1182L possibly damaging Het
Snx2 C T 18: 53,194,423 probably benign Het
Sos1 A T 17: 80,445,500 V335D probably damaging Het
St18 A G 1: 6,802,632 D197G probably damaging Het
Ston2 G T 12: 91,648,748 N295K possibly damaging Het
Stpg3 A G 2: 25,213,179 probably benign Het
Tmem63a A G 1: 180,972,089 I675V probably damaging Het
Vmn2r16 T A 5: 109,340,428 L389Q probably damaging Het
Vps13d C A 4: 144,972,750 probably benign Het
Wdfy4 A T 14: 32,959,977 D3012E probably damaging Het
Other mutations in Golm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Golm1 APN 13 59645144 missense possibly damaging 0.95
IGL02348:Golm1 APN 13 59638377 missense probably benign 0.00
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 2013-06-21