Incidental Mutation 'IGL03087:Golim4'
ID 418128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golim4
Ensembl Gene ENSMUSG00000034109
Gene Name golgi integral membrane protein 4
Synonyms 3110027H23Rik, P138, GPP130, Golph4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL03087
Quality Score
Status
Chromosome 3
Chromosomal Location 75783490-75864256 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75785980 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BXA1
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: 25,202,630 (GRCm39) probably benign Het
Acbd5 A G 2: 22,979,722 (GRCm39) T261A probably benign Het
Ap1g2 G A 14: 55,340,493 (GRCm39) T331I probably damaging Het
Ap4m1 A G 5: 138,173,066 (GRCm39) T150A probably benign Het
Arid4a G T 12: 71,122,019 (GRCm39) R478L possibly damaging Het
Bard1 T C 1: 71,106,289 (GRCm39) D446G probably damaging Het
Baz2a T C 10: 127,958,182 (GRCm39) L1087P probably damaging Het
Bnc1 A G 7: 81,624,390 (GRCm39) L279P possibly damaging Het
Bphl A T 13: 34,257,694 (GRCm39) H275L probably damaging Het
Ces1c T C 8: 93,845,042 (GRCm39) I120V probably benign Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
Dnah8 G A 17: 31,003,118 (GRCm39) V3606I probably benign Het
Eef2 A G 10: 81,017,081 (GRCm39) N696S probably benign Het
Eno4 A G 19: 58,951,248 (GRCm39) H420R possibly damaging Het
Enpp1 T A 10: 24,531,779 (GRCm39) probably benign Het
Fbxo25 T C 8: 13,974,019 (GRCm39) probably null Het
Glt8d1 T A 14: 30,732,053 (GRCm39) F155I probably damaging Het
Hnrnpdl T A 5: 100,185,460 (GRCm39) E149D probably damaging Het
Ifngr2 G T 16: 91,359,892 (GRCm39) *333L probably null Het
Ift88 T C 14: 57,715,414 (GRCm39) S486P probably benign Het
Igsf9 T C 1: 172,318,310 (GRCm39) I150T probably benign Het
Jag2 G A 12: 112,877,568 (GRCm39) L670F possibly damaging Het
Kcnc2 T A 10: 112,291,652 (GRCm39) I280N probably benign Het
Kif18a A G 2: 109,148,462 (GRCm39) probably benign Het
Lct A G 1: 128,228,112 (GRCm39) L1127P possibly damaging Het
Lonrf1 A T 8: 36,692,705 (GRCm39) probably null Het
Lyst T A 13: 13,809,641 (GRCm39) I437N probably damaging Het
Map3k1 A G 13: 111,885,559 (GRCm39) S1453P probably benign Het
Mcmdc2 A G 1: 10,001,170 (GRCm39) M482V possibly damaging Het
Mical1 T C 10: 41,358,686 (GRCm39) S535P probably damaging Het
Myh3 T C 11: 66,981,798 (GRCm39) F765L probably damaging Het
Nat8f6 A T 6: 85,785,499 (GRCm39) Y217N probably damaging Het
Ndufaf1 A G 2: 119,486,280 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,760 (GRCm39) C292* probably null Het
Or12j3 T A 7: 139,953,005 (GRCm39) I173F probably damaging Het
Or4c12b A G 2: 89,647,015 (GRCm39) E109G probably damaging Het
Or5j1 A T 2: 86,879,356 (GRCm39) S75T possibly damaging Het
Or6c76 A T 10: 129,612,130 (GRCm39) M116L probably damaging Het
Or7g16 T C 9: 18,727,380 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,735 (GRCm39) N572D probably damaging Het
Pfpl A G 19: 12,406,241 (GRCm39) N164S probably benign Het
Pi4kb A G 3: 94,892,075 (GRCm39) R264G probably benign Het
Pla2g2c T A 4: 138,458,923 (GRCm39) F10I probably benign Het
Rag2 G A 2: 101,460,559 (GRCm39) V290I probably benign Het
Rhot2 G A 17: 26,060,115 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,603,908 (GRCm39) Y238C probably damaging Het
Scyl2 G T 10: 89,488,830 (GRCm39) A495D possibly damaging Het
Septin4 T A 11: 87,476,071 (GRCm39) probably benign Het
Serpina5 G T 12: 104,067,992 (GRCm39) A18S probably benign Het
Slc25a11 T C 11: 70,536,033 (GRCm39) T234A probably benign Het
Slc44a2 C T 9: 21,258,061 (GRCm39) T435I probably benign Het
Tekt2 T A 4: 126,218,660 (GRCm39) Q31L possibly damaging Het
Tfpi A G 2: 84,274,389 (GRCm39) V199A possibly damaging Het
Trap1 G T 16: 3,862,565 (GRCm39) probably null Het
Trmt1 A G 8: 85,421,862 (GRCm39) Y213C probably damaging Het
Ubr4 C T 4: 139,177,668 (GRCm39) R3184* probably null Het
Uroc1 G T 6: 90,340,085 (GRCm39) probably benign Het
Vmn1r19 A G 6: 57,381,476 (GRCm39) I10V probably benign Het
Zfhx2 G A 14: 55,310,302 (GRCm39) A748V possibly damaging Het
Other mutations in Golim4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Golim4 APN 3 75,793,618 (GRCm39) missense probably damaging 1.00
IGL01540:Golim4 APN 3 75,794,047 (GRCm39) missense possibly damaging 0.81
IGL01548:Golim4 APN 3 75,815,432 (GRCm39) splice site probably null
IGL01552:Golim4 APN 3 75,863,502 (GRCm39) missense probably damaging 1.00
IGL02218:Golim4 APN 3 75,785,361 (GRCm39) missense probably damaging 1.00
IGL02935:Golim4 APN 3 75,802,299 (GRCm39) missense possibly damaging 0.86
R1314:Golim4 UTSW 3 75,793,595 (GRCm39) missense probably damaging 1.00
R1436:Golim4 UTSW 3 75,785,951 (GRCm39) critical splice donor site probably null
R1438:Golim4 UTSW 3 75,863,440 (GRCm39) missense probably damaging 0.99
R1686:Golim4 UTSW 3 75,802,443 (GRCm39) missense probably benign 0.00
R1785:Golim4 UTSW 3 75,815,456 (GRCm39) missense probably damaging 1.00
R1786:Golim4 UTSW 3 75,815,456 (GRCm39) missense probably damaging 1.00
R1828:Golim4 UTSW 3 75,809,745 (GRCm39) missense probably damaging 1.00
R2057:Golim4 UTSW 3 75,802,194 (GRCm39) missense possibly damaging 0.62
R2130:Golim4 UTSW 3 75,815,456 (GRCm39) missense probably damaging 1.00
R2131:Golim4 UTSW 3 75,815,456 (GRCm39) missense probably damaging 1.00
R2133:Golim4 UTSW 3 75,815,456 (GRCm39) missense probably damaging 1.00
R2432:Golim4 UTSW 3 75,799,249 (GRCm39) missense possibly damaging 0.93
R2517:Golim4 UTSW 3 75,800,166 (GRCm39) missense probably benign 0.01
R3915:Golim4 UTSW 3 75,810,634 (GRCm39) missense probably damaging 1.00
R4414:Golim4 UTSW 3 75,802,347 (GRCm39) missense probably benign 0.00
R4976:Golim4 UTSW 3 75,785,950 (GRCm39) splice site probably null
R5102:Golim4 UTSW 3 75,810,579 (GRCm39) missense possibly damaging 0.87
R5619:Golim4 UTSW 3 75,813,802 (GRCm39) nonsense probably null
R7051:Golim4 UTSW 3 75,800,309 (GRCm39) missense probably benign 0.07
R7058:Golim4 UTSW 3 75,785,957 (GRCm39) missense probably damaging 1.00
R7303:Golim4 UTSW 3 75,785,360 (GRCm39) missense probably damaging 1.00
R7484:Golim4 UTSW 3 75,805,442 (GRCm39) splice site probably null
R7681:Golim4 UTSW 3 75,794,331 (GRCm39) splice site probably null
R7702:Golim4 UTSW 3 75,794,091 (GRCm39) missense probably damaging 1.00
R8354:Golim4 UTSW 3 75,802,308 (GRCm39) missense probably damaging 1.00
R8845:Golim4 UTSW 3 75,802,272 (GRCm39) missense probably damaging 1.00
R8911:Golim4 UTSW 3 75,813,703 (GRCm39) splice site probably benign
R8932:Golim4 UTSW 3 75,805,351 (GRCm39) missense probably benign 0.02
R8993:Golim4 UTSW 3 75,785,435 (GRCm39) missense probably benign 0.25
R9393:Golim4 UTSW 3 75,785,464 (GRCm39) missense probably benign 0.04
R9445:Golim4 UTSW 3 75,813,775 (GRCm39) missense probably damaging 1.00
R9604:Golim4 UTSW 3 75,815,435 (GRCm39) critical splice donor site probably null
X0062:Golim4 UTSW 3 75,813,726 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02