Incidental Mutation 'R8993:Golim4'
ID 684526
Institutional Source Beutler Lab
Gene Symbol Golim4
Ensembl Gene ENSMUSG00000034109
Gene Name golgi integral membrane protein 4
Synonyms 3110027H23Rik, P138, Golph4, GPP130
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock # R8993 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 75875084-75956949 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75878128 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 652 (A652E)
Ref Sequence ENSEMBL: ENSMUSP00000114006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038563] [ENSMUST00000117242] [ENSMUST00000167078]
AlphaFold Q8BXA1
Predicted Effect probably benign
Transcript: ENSMUST00000038563
AA Change: A624E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: A624E

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 benign
Transcript: ENSMUST00000117242
AA Change: A652E

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: A652E

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 probably benign
Transcript: ENSMUST00000167078
AA Change: A624E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: A624E

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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
1700069L16Rik A T 5: 113,703,781 C92* probably null Het
A830018L16Rik G T 1: 11,545,267 E155* probably null Het
Acaa1a A T 9: 119,349,352 probably null Het
Adcy4 T C 14: 55,771,378 E864G probably null Het
Adcy4 T C 14: 55,778,699 D387G probably damaging Het
Ank1 C T 8: 23,098,939 H574Y probably damaging Het
Arhgef16 C T 4: 154,287,038 E233K probably damaging Het
Arhgef26 A T 3: 62,448,104 Y699F probably benign Het
BB014433 C T 8: 15,042,101 V251M probably damaging Het
Bcan G A 3: 87,994,222 A391V probably benign Het
Bod1l A C 5: 41,816,867 V2368G probably benign Het
Braf A G 6: 39,662,151 V222A probably damaging Het
Cd33 G T 7: 43,533,447 probably benign Het
Cdkl2 T A 5: 92,022,151 K324N probably damaging Het
Celf6 A T 9: 59,602,871 T199S probably damaging Het
Cmtm4 A C 8: 104,355,166 D196E probably benign Het
Cntn1 G A 15: 92,234,466 V148M probably damaging Het
Col1a2 C A 6: 4,535,451 P921H unknown Het
Crmp1 T C 5: 37,242,146 M1T probably null Het
Dnah7a A T 1: 53,504,103 Y2303N probably damaging Het
Dock10 G T 1: 80,574,171 T650K probably benign Het
Fam24a A G 7: 131,336,540 D53G probably benign Het
Foxa2 A T 2: 148,044,706 M69K probably benign Het
Gatad2a T A 8: 69,909,935 H601L probably damaging Het
Gimap4 A C 6: 48,690,605 D98A probably damaging Het
Gm14295 G T 2: 176,809,830 R371L possibly damaging Het
Gm5039 A G 12: 88,321,400 F28L probably benign Het
Grid1 A G 14: 35,026,942 I240V probably benign Het
Iqsec3 T A 6: 121,413,313 T400S unknown Het
Itk G A 11: 46,334,908 R539C probably damaging Het
Kdelc1 G T 1: 44,112,764 L322I possibly damaging Het
Kif27 T A 13: 58,326,098 D695V possibly damaging Het
Krt79 T C 15: 101,931,006 probably benign Het
Lama2 C A 10: 27,422,714 V129L possibly damaging Het
Lonrf1 C A 8: 36,229,238 E552D possibly damaging Het
Mpp3 A G 11: 102,000,665 I549T probably benign Het
Nat1 T C 8: 67,491,742 Y260H probably benign Het
Nipal2 T A 15: 34,648,837 K69* probably null Het
Nlrx1 G T 9: 44,256,941 probably benign Het
Pde1b C A 15: 103,521,425 A115E probably benign Het
Pde4dip A G 3: 97,766,494 Y369H probably damaging Het
Pnpla7 A G 2: 25,053,419 Y1286C possibly damaging Het
Pramel5 T C 4: 144,272,959 E186G possibly damaging Het
Qdpr C T 5: 45,450,044 G20D probably damaging Het
Rmnd1 T G 10: 4,407,918 I364L probably benign Het
Slc5a4a A T 10: 76,186,535 E568V probably benign Het
Slc6a18 T A 13: 73,668,271 I330F probably benign Het
Spesp1 T C 9: 62,273,270 T119A possibly damaging Het
Sypl G A 12: 32,975,663 S242N probably benign Het
Tbx18 G A 9: 87,730,717 T43M probably benign Het
Tm7sf2 T A 19: 6,063,926 D263V probably damaging Het
Trbv21 T C 6: 41,202,990 I80T probably damaging Het
Ttc3 T A 16: 94,427,808 L747Q possibly damaging Het
Ttll11 T C 2: 35,817,801 D498G possibly damaging Het
Ttn T C 2: 76,753,370 Y22431C probably null Het
Ubtfl1 T A 9: 18,410,341 S388R Het
Vmn2r118 A T 17: 55,610,835 L226I possibly damaging Het
Wdr46 A G 17: 33,949,182 H576R probably benign Het
Zfp426 A G 9: 20,475,000 F62L 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
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
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
R8845:Golim4 UTSW 3 75894965 missense probably damaging 1.00
R8932:Golim4 UTSW 3 75898044 missense probably benign 0.02
R9393:Golim4 UTSW 3 75878157 missense probably benign 0.04
X0062:Golim4 UTSW 3 75906419 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAATTCAGTAGGCGGGATTTG -3'
(R):5'- ATGCCAAAGTTATCTGGCCCAG -3'

Sequencing Primer
(F):5'- CGGGATTTGTTTTAGAGCAGC -3'
(R):5'- ACTGGAAAATTGTTGCTGTAGC -3'
Posted On 2021-10-11