Incidental Mutation 'IGL03087:Golim4'
ID418128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golim4
Ensembl Gene ENSMUSG00000034109
Gene Namegolgi integral membrane protein 4
Synonyms3110027H23Rik, P138, Golph4, GPP130
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL03087
Quality Score
Status
Chromosome3
Chromosomal Location75875084-75956949 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75878673 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 598 (H598Q)
Ref Sequence ENSEMBL: ENSMUSP00000132910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038563] [ENSMUST00000117242] [ENSMUST00000167078]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038563
AA Change: H598Q

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: H598Q

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
coiled coil region 108 211 N/A INTRINSIC
coiled coil region 295 326 N/A INTRINSIC
coiled coil region 371 402 N/A INTRINSIC
low complexity region 432 442 N/A INTRINSIC
internal_repeat_1 472 524 2.99e-6 PROSPERO
low complexity region 538 550 N/A INTRINSIC
internal_repeat_1 573 618 2.99e-6 PROSPERO
low complexity region 634 641 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117242
AA Change: H626Q

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: H626Q

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
coiled coil region 108 244 N/A INTRINSIC
coiled coil region 323 354 N/A INTRINSIC
coiled coil region 399 430 N/A INTRINSIC
low complexity region 460 470 N/A INTRINSIC
internal_repeat_1 500 552 7.18e-7 PROSPERO
low complexity region 566 578 N/A INTRINSIC
internal_repeat_1 601 646 7.18e-7 PROSPERO
low complexity region 662 669 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134219
Predicted Effect possibly damaging
Transcript: ENSMUST00000167078
AA Change: H598Q

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: H598Q

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
coiled coil region 108 211 N/A INTRINSIC
coiled coil region 295 326 N/A INTRINSIC
coiled coil region 371 402 N/A INTRINSIC
low complexity region 432 442 N/A INTRINSIC
internal_repeat_1 472 524 2.99e-6 PROSPERO
low complexity region 538 550 N/A INTRINSIC
internal_repeat_1 573 618 2.99e-6 PROSPERO
low complexity region 634 641 N/A INTRINSIC
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-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Golim4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Golim4 APN 3 75886311 missense probably damaging 1.00
IGL01540:Golim4 APN 3 75886740 missense possibly damaging 0.81
IGL01548:Golim4 APN 3 75908125 splice site probably null
IGL01552:Golim4 APN 3 75956195 missense probably damaging 1.00
IGL02218:Golim4 APN 3 75878054 missense probably damaging 1.00
IGL02935:Golim4 APN 3 75894992 missense possibly damaging 0.86
R1314:Golim4 UTSW 3 75886288 missense probably damaging 1.00
R1436:Golim4 UTSW 3 75878644 critical splice donor site probably null
R1438:Golim4 UTSW 3 75956133 missense probably damaging 0.99
R1686:Golim4 UTSW 3 75895136 missense probably benign 0.00
R1785:Golim4 UTSW 3 75908149 missense probably damaging 1.00
R1786:Golim4 UTSW 3 75908149 missense probably damaging 1.00
R1828:Golim4 UTSW 3 75902438 missense probably damaging 1.00
R2057:Golim4 UTSW 3 75894887 missense possibly damaging 0.62
R2130:Golim4 UTSW 3 75908149 missense probably damaging 1.00
R2131:Golim4 UTSW 3 75908149 missense probably damaging 1.00
R2133:Golim4 UTSW 3 75908149 missense probably damaging 1.00
R2432:Golim4 UTSW 3 75891942 missense possibly damaging 0.93
R2517:Golim4 UTSW 3 75892859 missense probably benign 0.01
R3915:Golim4 UTSW 3 75903327 missense probably damaging 1.00
R4414:Golim4 UTSW 3 75895040 missense probably benign 0.00
R4976:Golim4 UTSW 3 75878643 splice site probably null
R5102:Golim4 UTSW 3 75903272 missense possibly damaging 0.87
R5619:Golim4 UTSW 3 75906495 nonsense probably null
R7051:Golim4 UTSW 3 75893002 missense probably benign 0.07
R7058:Golim4 UTSW 3 75878650 missense probably damaging 1.00
R7303:Golim4 UTSW 3 75878053 missense probably damaging 1.00
R7484:Golim4 UTSW 3 75898135 splice site probably null
R7681:Golim4 UTSW 3 75887024 splice site probably null
R7702:Golim4 UTSW 3 75886784 missense probably damaging 1.00
R8354:Golim4 UTSW 3 75895001 missense probably damaging 1.00
X0062:Golim4 UTSW 3 75906419 missense probably damaging 1.00
Posted On2016-08-02