Incidental Mutation 'R8845:Golim4'
ID 674636
Institutional Source Beutler Lab
Gene Symbol Golim4
Ensembl Gene ENSMUSG00000034109
Gene Name golgi integral membrane protein 4
Synonyms 3110027H23Rik, P138, GPP130, Golph4
MMRRC Submission 068734-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8845 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 75783490-75864256 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75802272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 340 (M340K)
Ref Sequence ENSEMBL: ENSMUSP00000114006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038563] [ENSMUST00000117242] [ENSMUST00000167078]
AlphaFold Q8BXA1
Predicted Effect probably damaging
Transcript: ENSMUST00000038563
AA Change: M312K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: M312K

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: M340K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: M340K

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
SMART Domains Protein: ENSMUSP00000119501
Gene: ENSMUSG00000034109
AA Change: M106K

DomainStartEndE-ValueType
coiled coil region 89 120 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167078
AA Change: M312K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: M312K

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: 99.6%
  • 20x: 98.7%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,846,428 (GRCm39) P627S probably benign Het
Abca4 G A 3: 121,930,651 (GRCm39) V1383M probably damaging Het
Acer3 A G 7: 97,910,832 (GRCm39) S77P probably damaging Het
Adgrv1 G T 13: 81,629,478 (GRCm39) T3640N possibly damaging Het
Agmo T C 12: 37,294,364 (GRCm39) L104P probably benign Het
Alox12 C A 11: 70,137,877 (GRCm39) G421V probably damaging Het
Atad2 A G 15: 57,989,532 (GRCm39) V182A probably damaging Het
Bnc2 C T 4: 84,194,338 (GRCm39) A929T possibly damaging Het
Bola3 T C 6: 83,335,154 (GRCm39) M83T probably damaging Het
Brca2 T C 5: 150,466,847 (GRCm39) F2204L possibly damaging Het
Cachd1 T C 4: 100,810,343 (GRCm39) V315A probably benign Het
Ccdc154 C A 17: 25,390,138 (GRCm39) N547K probably damaging Het
Ccdc62 C A 5: 124,092,470 (GRCm39) T485K probably benign Het
Cdc40 G A 10: 40,717,790 (GRCm39) T371I possibly damaging Het
Cep112 T C 11: 108,461,193 (GRCm39) F657L probably damaging Het
Cirbp A G 10: 80,005,931 (GRCm39) D62G probably damaging Het
Cntf A C 19: 12,741,664 (GRCm39) S65R probably benign Het
Cxxc4 CGGC CGGCGGGGGC 3: 133,945,912 (GRCm39) probably benign Het
Cyfip1 G T 7: 55,579,834 (GRCm39) G1229V probably benign Het
Cyp4a30b A C 4: 115,315,493 (GRCm39) N238T probably benign Het
Dbx2 G A 15: 95,552,517 (GRCm39) R43C probably benign Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Fbxw13 G T 9: 109,023,833 (GRCm39) F70L possibly damaging Het
Fhod3 A G 18: 25,265,976 (GRCm39) T1555A probably damaging Het
Fnbp4 A G 2: 90,606,368 (GRCm39) M763V probably benign Het
Gdf7 A G 12: 8,348,905 (GRCm39) S131P unknown Het
Gm9938 A T 19: 23,701,941 (GRCm39) E93V unknown Het
Gphn A G 12: 78,538,953 (GRCm39) S200G probably benign Het
Hpse T C 5: 100,859,248 (GRCm39) D99G probably benign Het
Iqgap2 A T 13: 95,794,392 (GRCm39) N1193K possibly damaging Het
Jag2 A T 12: 112,883,714 (GRCm39) C256S probably damaging Het
Ldb3 T C 14: 34,258,634 (GRCm39) Y657C probably damaging Het
Lmtk2 T A 5: 144,110,704 (GRCm39) Y475N probably damaging Het
Mep1b A T 18: 21,230,379 (GRCm39) K644* probably null Het
Muc4 A C 16: 32,576,889 (GRCm39) T60P possibly damaging Het
Nckap5 G T 1: 125,909,423 (GRCm39) Q1603K possibly damaging Het
Npy6r C T 18: 44,408,606 (GRCm39) T9I probably benign Het
Nsd2 T C 5: 34,039,885 (GRCm39) C846R probably damaging Het
Oard1 A C 17: 48,721,259 (GRCm39) K64Q probably benign Het
Or4c103 T A 2: 88,513,735 (GRCm39) I114F possibly damaging Het
Or52e19b A T 7: 103,032,357 (GRCm39) V284D probably damaging Het
Or5w8 G T 2: 87,687,545 (GRCm39) V9L probably benign Het
Or6c208 A G 10: 129,224,065 (GRCm39) T188A probably damaging Het
Pkhd1l1 T G 15: 44,368,650 (GRCm39) S823A probably benign Het
Pla2r1 A G 2: 60,259,053 (GRCm39) S1112P possibly damaging Het
Plekho2 T C 9: 65,465,963 (GRCm39) T142A probably damaging Het
Prr35 A T 17: 26,165,823 (GRCm39) V488E probably benign Het
Prrc2b T A 2: 32,102,105 (GRCm39) M726K possibly damaging Het
Prrc2b A T 2: 32,106,162 (GRCm39) K1514I possibly damaging Het
Rin1 A T 19: 5,104,947 (GRCm39) D669V probably damaging Het
Setd1b C T 5: 123,282,310 (GRCm39) A146V unknown Het
Sigmar1 G A 4: 41,741,234 (GRCm39) R7W probably damaging Het
Slain1 C T 14: 103,925,747 (GRCm39) T365I possibly damaging Het
Slc38a2 G A 15: 96,592,900 (GRCm39) T186I probably benign Het
Tas2r130 A T 6: 131,607,642 (GRCm39) V51E probably benign Het
Tgfb1i1 A T 7: 127,851,690 (GRCm39) H332L possibly damaging Het
Trav7n-4 T C 14: 53,328,846 (GRCm39) L15S probably damaging Het
Ttc28 T C 5: 111,372,041 (GRCm39) V861A probably benign Het
Ttn A G 2: 76,632,658 (GRCm39) I14132T probably damaging Het
Ttn T C 2: 76,606,380 (GRCm39) E18143G probably damaging Het
Vmn1r203 C T 13: 22,708,720 (GRCm39) S167L possibly damaging Het
Vmn2r108 A T 17: 20,691,361 (GRCm39) H387Q probably benign Het
Vps33a A T 5: 123,709,538 (GRCm39) probably null Het
Vps50 G A 6: 3,504,926 (GRCm39) V31I probably benign Het
Wdcp A G 12: 4,901,439 (GRCm39) T432A probably benign Het
Wdr36 T A 18: 32,994,098 (GRCm39) Y645* probably null 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
IGL03087:Golim4 APN 3 75,785,980 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- TCCCCATCAGAGAGAAGGTC -3'
(R):5'- CTGCTGTAGCCCTTTTAGATGAG -3'

Sequencing Primer
(F):5'- AGGTCTGGTGAGCTCCCATG -3'
(R):5'- TCTTGAAATAACTAGGTGCAGCCG -3'
Posted On 2021-07-15