Incidental Mutation 'R9703:Golm1'
ID 729679
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: 0.057) question?
Stock # R9703 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 59634626-59675811 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59649619 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 137 (D137E)
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: D137E

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: D137E

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: D137E

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: D137E

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: 99.3%
  • 20x: 98.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A G 6: 48,932,695 T625A probably benign Het
Adam20 T A 8: 40,795,934 N360K probably damaging Het
Apob T A 12: 7,980,507 L82Q probably damaging Het
Arhgap30 T G 1: 171,407,771 L571R probably damaging Het
Atg9a C T 1: 75,185,787 C493Y probably damaging Het
Brip1 T C 11: 86,062,004 T984A possibly damaging Het
Btbd9 A G 17: 30,530,226 V38A possibly damaging Het
C87977 T A 4: 144,212,940 D9V probably damaging Het
Crocc2 C A 1: 93,202,722 D908E probably benign Het
Crybg3 C G 16: 59,555,576 A58P probably damaging Het
Cts7 T C 13: 61,356,536 N71S probably damaging Het
Ddx46 A G 13: 55,676,822 Y962C probably damaging Het
Dock10 G A 1: 80,539,823 R1373C probably damaging Het
Dock9 A T 14: 121,544,577 *2043R probably null Het
Efs A T 14: 54,919,414 V388E possibly damaging Het
Esyt1 C T 10: 128,518,927 probably null Het
Extl3 G T 14: 65,054,654 R907S probably damaging Het
Fcgbp G A 7: 28,106,975 V2123M probably damaging Het
Gas2l3 C T 10: 89,414,081 A392T probably benign Het
Grxcr2 T C 18: 41,991,923 D140G possibly damaging Het
Hist2h2aa2 G A 3: 96,240,241 R4C probably benign Het
Hrh1 G A 6: 114,481,018 C420Y probably benign Het
Ints13 A T 6: 146,557,565 L316Q probably damaging Het
Iws1 T A 18: 32,079,685 D55E probably damaging Het
Kcnrg CACAACAA CACAA 14: 61,607,560 probably benign Het
Klrc2 G C 6: 129,656,444 S215* probably null Het
Mpp5 T A 12: 78,797,076 I18K probably benign Het
Muc5b A G 7: 141,871,798 T4727A possibly damaging Het
Nsd3 T C 8: 25,641,212 S198P probably benign Het
Olfr133 A T 17: 38,148,965 I126F possibly damaging Het
Olfr807 A T 10: 129,755,417 I11N possibly damaging Het
Ovch2 T A 7: 107,784,570 I523F probably damaging Het
Pcdhb1 T A 18: 37,265,966 D323E probably damaging Het
Pfkl T A 10: 77,990,308 probably null Het
Pigc T A 1: 161,970,607 F53I probably benign Het
Prph2 G A 17: 46,923,521 A339T unknown Het
Prrc2a T C 17: 35,159,344 K452E unknown Het
Rab36 T C 10: 75,050,642 W151R possibly damaging Het
Sdk1 A G 5: 142,114,528 T1438A possibly damaging Het
Slc25a17 A T 15: 81,339,992 I55K probably damaging Het
Smg1 A T 7: 118,140,521 I3401N possibly damaging Het
Smpd3 T A 8: 106,265,081 H280L probably damaging Het
Srsf10 A G 4: 135,863,842 H202R probably benign Het
Swap70 C T 7: 110,273,305 R376C probably damaging Het
Syde1 G T 10: 78,585,723 L665M probably damaging Het
Tha1 A G 11: 117,871,037 V126A probably damaging Het
Tln2 T C 9: 67,386,656 H230R probably damaging Het
Tnc G A 4: 63,971,175 A1698V probably benign Het
Twist2 C A 1: 91,802,022 S132R probably damaging Het
Ubr1 C T 2: 120,901,611 C1170Y probably damaging Het
Vwa1 G A 4: 155,772,879 P154L probably damaging 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
R9519:Golm1 UTSW 13 59645100 missense probably benign
X0026:Golm1 UTSW 13 59638313 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTATAATGAGCCCTGCTGG -3'
(R):5'- TCAAGGTGCAGGCTTCTGTG -3'

Sequencing Primer
(F):5'- CCCTGCTGGCTTATACTTATATAAGG -3'
(R):5'- TCTGTAGACCGGACTAGGTTCAAC -3'
Posted On 2022-10-06