Incidental Mutation 'IGL01327:Golm1'
ID 74319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golm1
Ensembl Gene ENSMUSG00000021556
Gene Name golgi membrane protein 1
Synonyms Golph2, 2310001L02Rik, D030064E01Rik, PSEC0257, GP73
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01327
Quality Score
Chromosome 13
Chromosomal Location 59782810-59823598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59792958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 182 (N182K)
Ref Sequence ENSEMBL: ENSMUSP00000093410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022039] [ENSMUST00000095739]
AlphaFold Q91XA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022039
AA Change: N182K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: N182K

transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 40 144 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000095739
AA Change: N182K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: N182K

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,521 (GRCm39) V497E probably damaging Het
Adcy7 T G 8: 89,045,418 (GRCm39) probably benign Het
Aldh1a2 T A 9: 71,193,248 (GRCm39) F486I possibly damaging Het
Alox12 T A 11: 70,145,375 (GRCm39) H66L probably benign Het
Apoh T G 11: 108,288,187 (GRCm39) Y102D probably damaging Het
Arl9 T C 5: 77,154,401 (GRCm39) V43A possibly damaging Het
Atf6 A G 1: 170,616,175 (GRCm39) probably null Het
Atp4a T A 7: 30,412,675 (GRCm39) I127N possibly damaging Het
AY358078 T A 14: 52,043,166 (GRCm39) probably benign Het
Baat T G 4: 49,490,338 (GRCm39) K249Q probably damaging Het
Brat1 C T 5: 140,703,963 (GRCm39) Q739* probably null Het
C8g A G 2: 25,389,089 (GRCm39) F165L probably damaging Het
Cel T G 2: 28,447,967 (GRCm39) D353A possibly damaging Het
Col6a1 G T 10: 76,546,813 (GRCm39) T803K unknown Het
Cpxm1 A G 2: 130,238,277 (GRCm39) L95P probably benign Het
Ctsr A G 13: 61,310,489 (GRCm39) probably benign Het
Cyth1 A G 11: 118,084,439 (GRCm39) probably null Het
Dync1h1 A T 12: 110,583,126 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,262 (GRCm39) C407Y probably damaging Het
Fam243 T C 16: 92,117,661 (GRCm39) Y209C probably benign Het
Gm3696 A T 14: 18,435,903 (GRCm39) W38R probably benign Het
Gm9611 T C 14: 42,116,622 (GRCm39) T39A possibly damaging Het
Gnpat T A 8: 125,605,372 (GRCm39) L287H probably damaging Het
Hdac6 T C X: 7,798,013 (GRCm39) M899V probably benign Het
Hsf3 T A X: 95,358,578 (GRCm39) M272L probably benign Het
Kif19a C T 11: 114,672,625 (GRCm39) probably benign Het
Lcn2 T G 2: 32,276,030 (GRCm39) Y100S possibly damaging Het
Lrrc8d T A 5: 105,960,131 (GRCm39) S180R probably damaging Het
Ly6h A G 15: 75,436,948 (GRCm39) probably benign Het
Macf1 T C 4: 123,403,705 (GRCm39) N705D probably benign Het
Mst1r C T 9: 107,785,043 (GRCm39) P234S probably benign Het
Msto1 T A 3: 88,817,939 (GRCm39) probably null Het
Myo5a T A 9: 75,094,820 (GRCm39) probably benign Het
Nipa1 T C 7: 55,629,409 (GRCm39) I235V probably benign Het
Nlgn3 T C X: 100,362,228 (GRCm39) V399A probably benign Het
Or1d2 T A 11: 74,255,738 (GRCm39) M81K possibly damaging Het
Or2b28 A G 13: 21,531,377 (GRCm39) N93S probably benign Het
Pih1d1 T C 7: 44,809,399 (GRCm39) S289P probably benign Het
Ppl T C 16: 4,905,508 (GRCm39) N1596D probably benign Het
Psmb6 T A 11: 70,417,412 (GRCm39) S114R possibly damaging Het
Pum1 C A 4: 130,457,854 (GRCm39) Q289K probably damaging Het
Shkbp1 T C 7: 27,054,676 (GRCm39) I75V probably benign Het
Slc24a3 T A 2: 145,444,478 (GRCm39) I284N probably benign Het
Slc44a3 C T 3: 121,320,842 (GRCm39) G53D probably damaging Het
Slc9a4 A C 1: 40,668,565 (GRCm39) D736A probably benign Het
Stra6 A G 9: 58,059,854 (GRCm39) D605G probably benign Het
Tas2r126 T A 6: 42,411,684 (GRCm39) H72Q probably benign Het
Tbrg1 C T 9: 37,564,408 (GRCm39) R166Q probably benign Het
Thumpd1 C T 7: 119,319,925 (GRCm39) G14R probably benign Het
Ticrr C T 7: 79,344,209 (GRCm39) T1358I probably benign Het
Tmtc2 A T 10: 105,184,340 (GRCm39) N518K probably benign Het
Trpm4 C A 7: 44,964,497 (GRCm39) W533C probably damaging Het
Tsen54 T C 11: 115,712,538 (GRCm39) Y119H possibly damaging Het
Tulp3 G A 6: 128,304,597 (GRCm39) T219M probably damaging Het
Usp19 T C 9: 108,376,160 (GRCm39) L1000S possibly damaging Het
Vps16 A T 2: 130,279,616 (GRCm39) Y43F probably benign Het
Vsig1 T A X: 139,838,429 (GRCm39) V283E possibly damaging Het
Other mutations in Golm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Golm1 APN 13 59,797,470 (GRCm39) missense probably damaging 0.99
IGL02348:Golm1 APN 13 59,786,191 (GRCm39) missense probably benign 0.00
R0047:Golm1 UTSW 13 59,792,914 (GRCm39) missense probably benign 0.03
R0047:Golm1 UTSW 13 59,792,914 (GRCm39) missense probably benign 0.03
R0458:Golm1 UTSW 13 59,812,178 (GRCm39) missense probably damaging 0.98
R0989:Golm1 UTSW 13 59,787,997 (GRCm39) missense probably benign 0.01
R1301:Golm1 UTSW 13 59,786,187 (GRCm39) missense probably damaging 0.99
R1804:Golm1 UTSW 13 59,790,203 (GRCm39) critical splice acceptor site probably null
R1905:Golm1 UTSW 13 59,790,065 (GRCm39) missense probably benign 0.04
R1940:Golm1 UTSW 13 59,790,051 (GRCm39) splice site probably benign
R2086:Golm1 UTSW 13 59,792,999 (GRCm39) nonsense probably null
R2513:Golm1 UTSW 13 59,790,072 (GRCm39) missense probably benign 0.01
R2887:Golm1 UTSW 13 59,788,044 (GRCm39) missense probably benign 0.00
R3903:Golm1 UTSW 13 59,786,154 (GRCm39) missense probably damaging 1.00
R4154:Golm1 UTSW 13 59,790,167 (GRCm39) missense probably benign 0.01
R5580:Golm1 UTSW 13 59,790,179 (GRCm39) missense probably benign 0.03
R6193:Golm1 UTSW 13 59,792,972 (GRCm39) missense probably benign 0.00
R6418:Golm1 UTSW 13 59,813,375 (GRCm39) missense probably damaging 1.00
R6594:Golm1 UTSW 13 59,812,041 (GRCm39) missense possibly damaging 0.79
R6604:Golm1 UTSW 13 59,786,197 (GRCm39) missense probably damaging 1.00
R6967:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6968:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6991:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6992:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6993:Golm1 UTSW 13 59,797,390 (GRCm39) small deletion probably benign
R6996:Golm1 UTSW 13 59,790,058 (GRCm39) missense probably benign 0.00
R7576:Golm1 UTSW 13 59,792,920 (GRCm39) missense probably benign 0.00
R7692:Golm1 UTSW 13 59,788,071 (GRCm39) missense probably benign 0.08
R7863:Golm1 UTSW 13 59,797,383 (GRCm39) missense probably damaging 1.00
R7948:Golm1 UTSW 13 59,812,011 (GRCm39) critical splice donor site probably null
R9519:Golm1 UTSW 13 59,792,914 (GRCm39) missense probably benign
R9703:Golm1 UTSW 13 59,797,433 (GRCm39) missense probably benign 0.39
X0026:Golm1 UTSW 13 59,786,127 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07