Incidental Mutation 'IGL01552:Golim4'
ID90612
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 #IGL01552
Quality Score
Status
Chromosome3
Chromosomal Location75875084-75956949 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75956195 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 35 (E35G)
Ref Sequence ENSEMBL: ENSMUSP00000132910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038563] [ENSMUST00000117242] [ENSMUST00000167078]
Predicted Effect probably damaging
Transcript: ENSMUST00000038563
AA Change: E35G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: E35G

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 probably damaging
Transcript: ENSMUST00000117242
AA Change: E35G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: E35G

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: ENSMUST00000125405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131987
Predicted Effect probably damaging
Transcript: ENSMUST00000167078
AA Change: E35G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: E35G

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 noncoding transcript
Transcript: ENSMUST00000192433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193507
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A G 3: 108,481,312 W252R possibly damaging Het
Arl8a T C 1: 135,152,868 probably null Het
Bivm A G 1: 44,126,773 N128D probably benign Het
Chil3 C A 3: 106,148,848 G330V probably damaging Het
Dscaml1 A G 9: 45,447,908 H155R probably damaging Het
Etl4 T A 2: 20,778,189 V687D probably damaging Het
Fbxw10 A T 11: 62,857,684 probably null Het
Gfpt2 G T 11: 49,805,005 E21* probably null Het
Gm10197 C T 19: 53,371,691 V26I possibly damaging Het
Gm4788 A G 1: 139,739,302 Y412H probably damaging Het
Gm6614 T C 6: 141,987,706 K451R possibly damaging Het
Igdcc4 A G 9: 65,122,502 probably benign Het
Ino80d A G 1: 63,057,977 probably benign Het
Ipo13 A G 4: 117,900,964 M734T probably benign Het
Klk1b27 C T 7: 44,054,615 L61F probably damaging Het
Lamtor5 T C 3: 107,279,008 V31A probably benign Het
Lrp1 A T 10: 127,588,510 L769* probably null Het
Nipsnap1 A T 11: 4,889,124 S135C probably damaging Het
Olfr1277 C A 2: 111,269,912 G152C probably damaging Het
Pparg A T 6: 115,490,122 H452L probably benign Het
Rab34 C T 11: 78,191,438 A202V probably damaging Het
Ryr3 T A 2: 112,825,883 T1923S possibly damaging Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Sh2d4b T C 14: 40,860,648 Q195R probably benign Het
Sik2 C A 9: 50,917,522 probably benign Het
Slc25a36 A G 9: 97,079,233 V111A probably benign Het
Sptbn5 A T 2: 120,054,422 probably benign Het
Tac2 G A 10: 127,726,101 E25K possibly damaging Het
Tnc A G 4: 63,970,408 V1807A probably damaging Het
Top3b T C 16: 16,887,823 probably benign Het
Zfp827 A G 8: 79,076,191 E464G probably 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
IGL02218:Golim4 APN 3 75878054 missense probably damaging 1.00
IGL02935:Golim4 APN 3 75894992 missense possibly damaging 0.86
IGL03087:Golim4 APN 3 75878673 missense possibly damaging 0.94
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 On2013-12-09