Incidental Mutation 'R9519:Golm1'
ID 718782
Institutional Source Beutler Lab
Gene Symbol Golm1
Ensembl Gene ENSMUSG00000021556
Gene Name golgi membrane protein 1
Synonyms 2310001L02Rik, GP73, PSEC0257, D030064E01Rik, Golph2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R9519 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 59634626-59675811 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59645100 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 197 (H197R)
Ref Sequence ENSEMBL: ENSMUSP00000022039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022039] [ENSMUST00000095739]
AlphaFold Q91XA2
Predicted Effect probably benign
Transcript: ENSMUST00000022039
AA Change: H197R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: H197R

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: H197R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: H197R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,882,725 E676G probably benign Het
Aatk G A 11: 120,021,483 probably benign Het
Abcc1 T C 16: 14,389,817 V20A probably benign Het
Abcc3 A G 11: 94,373,979 V181A possibly damaging Het
Alkbh2 T C 5: 114,127,733 K3E probably benign Het
Aox2 A C 1: 58,334,767 K862N probably damaging Het
Arap1 G A 7: 101,394,739 probably benign Het
Arid2 A G 15: 96,289,067 N67D possibly damaging Het
Atxn1l C T 8: 109,732,056 V525M probably damaging Het
Bcan C G 3: 87,995,657 E271D probably damaging Het
Bcan C A 3: 87,995,660 E270D probably damaging Het
Bcan T C 3: 87,995,661 E270G probably benign Het
Cadps T C 14: 12,546,290 H522R possibly damaging Het
Dll3 A G 7: 28,296,339 S346P probably damaging Het
Epha3 T A 16: 63,652,305 T406S possibly damaging Het
Far1 A G 7: 113,551,352 R296G probably benign Het
Flot1 T G 17: 35,825,471 V172G possibly damaging Het
Gm973 A G 1: 59,541,452 M165V probably benign Het
Gpr85 T C 6: 13,836,999 probably benign Het
Herc1 A G 9: 66,400,074 K1017E probably damaging Het
Inpp5f A C 7: 128,676,791 D435A possibly damaging Het
Jmjd1c A G 10: 67,158,019 D93G possibly damaging Het
Kcnn4 T A 7: 24,382,516 V363E probably damaging Het
Kif9 A G 9: 110,521,276 D745G probably damaging Het
Lipm T C 19: 34,112,992 M191T probably benign Het
Ltbp1 C T 17: 75,385,195 R1603C probably damaging Het
Ms4a13 C G 19: 11,169,968 S194T unknown Het
Muc16 A T 9: 18,586,920 I6577N probably benign Het
Nfatc2 T C 2: 168,570,758 T336A probably benign Het
Nlrp9c T A 7: 26,385,877 K92N possibly damaging Het
Olfr404-ps1 A T 11: 74,240,001 T146S probably benign Het
Olfr642 C A 7: 104,049,429 M308I probably benign Het
Parp16 T A 9: 65,229,940 Y149* probably null Het
Pdgfra A T 5: 75,176,689 T463S probably benign Het
Peg3 T C 7: 6,711,395 E276G probably benign Het
Prom1 A G 5: 44,056,061 V110A possibly damaging Het
Ptprq T C 10: 107,685,100 Y737C probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,579,909 probably benign Het
Sds T A 5: 120,481,545 L173Q probably damaging Het
Shank1 G A 7: 44,312,918 S71N unknown Het
Slc8a3 A T 12: 81,315,552 D164E probably benign Het
Slc9c1 A T 16: 45,575,407 N607I probably damaging Het
Smarce1 A T 11: 99,214,107 I248K probably benign Het
Smg7 G T 1: 152,859,445 T213K probably damaging Het
Snrnp70 C T 7: 45,387,451 D90N probably benign Het
Snx20 A G 8: 88,627,772 V110A possibly damaging Het
Snx25 A G 8: 46,033,746 V986A probably damaging Het
Soat1 T C 1: 156,432,209 K521E probably benign Het
Speg C T 1: 75,415,736 T1679M probably damaging Het
Stoml3 T A 3: 53,497,981 F28I probably benign Het
Sult1d1 A T 5: 87,556,862 M256K probably damaging Het
Tiam1 T C 16: 89,811,934 E1064G probably benign Het
Vwa1 G A 4: 155,772,879 P154L probably damaging Het
Zfp790 C A 7: 29,823,142 H3N unknown 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
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
R9703:Golm1 UTSW 13 59649619 missense probably benign 0.39
X0026:Golm1 UTSW 13 59638313 missense probably damaging 1.00
Predicted Primers
Posted On 2022-07-18