Incidental Mutation 'R6467:Golga4'
ID 516654
Institutional Source Beutler Lab
Gene Symbol Golga4
Ensembl Gene ENSMUSG00000038708
Gene Name golgin A4
Synonyms golgin-245, Olp-1
MMRRC Submission 044600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6467 (G1)
Quality Score 210.009
Status Validated
Chromosome 9
Chromosomal Location 118335335-118411587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118365860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 304 (L304P)
Ref Sequence ENSEMBL: ENSMUSP00000148748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000212097] [ENSMUST00000212461]
AlphaFold Q91VW5
Predicted Effect probably damaging
Transcript: ENSMUST00000084820
AA Change: L304P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: L304P

DomainStartEndE-ValueType
low complexity region 10 41 N/A INTRINSIC
coiled coil region 157 241 N/A INTRINSIC
internal_repeat_1 271 299 2.93e-5 PROSPERO
low complexity region 339 351 N/A INTRINSIC
low complexity region 513 532 N/A INTRINSIC
low complexity region 547 566 N/A INTRINSIC
low complexity region 705 715 N/A INTRINSIC
low complexity region 739 755 N/A INTRINSIC
low complexity region 882 895 N/A INTRINSIC
SCOP:d1epua_ 940 1076 2e-3 SMART
low complexity region 1138 1152 N/A INTRINSIC
low complexity region 1161 1182 N/A INTRINSIC
low complexity region 1204 1228 N/A INTRINSIC
coiled coil region 1283 1496 N/A INTRINSIC
internal_repeat_2 1500 1525 5.98e-5 PROSPERO
coiled coil region 1541 1715 N/A INTRINSIC
low complexity region 1756 1778 N/A INTRINSIC
internal_repeat_1 1811 1839 2.93e-5 PROSPERO
coiled coil region 1844 1883 N/A INTRINSIC
internal_repeat_2 1899 1924 5.98e-5 PROSPERO
coiled coil region 1933 2160 N/A INTRINSIC
Grip 2181 2225 1.38e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212097
AA Change: L304P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212183
Predicted Effect probably damaging
Transcript: ENSMUST00000212461
AA Change: L313P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212593
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b T C 15: 101,092,722 (GRCm39) W122R possibly damaging Het
Adgrv1 C T 13: 81,592,657 (GRCm39) R4294H probably benign Het
Afdn A G 17: 14,024,315 (GRCm39) T74A probably damaging Het
Aff3 T A 1: 38,247,098 (GRCm39) D829V probably benign Het
Akr1c12 T C 13: 4,325,772 (GRCm39) Q107R probably benign Het
Apc T A 18: 34,402,252 (GRCm39) F131I probably benign Het
Atosb A T 4: 43,033,687 (GRCm39) F489I probably damaging Het
Atp13a1 T A 8: 70,259,424 (GRCm39) L1036H probably damaging Het
BC035044 A C 6: 128,867,855 (GRCm39) probably benign Het
C1rl A G 6: 124,485,535 (GRCm39) D302G probably benign Het
C2cd6 A C 1: 59,117,093 (GRCm39) D133E probably benign Het
Cacna1c T A 6: 118,629,671 (GRCm39) Y1061F probably damaging Het
Cav1 A G 6: 17,308,034 (GRCm39) D62G probably damaging Het
Ccdc77 T C 6: 120,327,242 (GRCm39) M68V probably damaging Het
Cd55 A T 1: 130,375,348 (GRCm39) probably benign Het
Cdc27 C A 11: 104,413,602 (GRCm39) A380S probably damaging Het
Cenpb A T 2: 131,021,477 (GRCm39) I107K probably damaging Het
Cep135 T G 5: 76,769,187 (GRCm39) H612Q possibly damaging Het
Chd1l A T 3: 97,470,849 (GRCm39) N815K probably damaging Het
Cldn20 C T 17: 3,582,992 (GRCm39) T55M possibly damaging Het
Depdc1a A T 3: 159,221,679 (GRCm39) I208L probably benign Het
Dgkb C T 12: 38,134,223 (GRCm39) A43V possibly damaging Het
Dgkb C T 12: 38,654,104 (GRCm39) T741I probably damaging Het
Dhx16 A G 17: 36,197,076 (GRCm39) N653S probably damaging Het
Dnah5 T A 15: 28,438,329 (GRCm39) S3987T probably benign Het
Dnai4 T C 4: 102,906,758 (GRCm39) D685G probably damaging Het
Dst T A 1: 34,334,277 (GRCm39) I4835N probably damaging Het
Esrrb A G 12: 86,561,114 (GRCm39) I288V probably damaging Het
Fnta C T 8: 26,497,341 (GRCm39) W169* probably null Het
Hace1 A G 10: 45,466,362 (GRCm39) probably null Het
Ino80b G T 6: 83,101,112 (GRCm39) probably null Het
Kcmf1 G A 6: 72,820,082 (GRCm39) R306C probably damaging Het
Lrrc46 G A 11: 96,927,305 (GRCm39) T92I possibly damaging Het
Man2b1 T C 8: 85,824,076 (GRCm39) V991A possibly damaging Het
Mga A G 2: 119,776,776 (GRCm39) N1770S probably damaging Het
Mgat4e T C 1: 134,468,944 (GRCm39) T367A probably benign Het
Mtr A G 13: 12,202,992 (GRCm39) S1204P probably damaging Het
Myo15a G A 11: 60,417,487 (GRCm39) probably null Het
Nktr T C 9: 121,560,585 (GRCm39) S74P probably damaging Het
Noct T C 3: 51,157,508 (GRCm39) V282A possibly damaging Het
Nol11 A T 11: 107,071,912 (GRCm39) I227K possibly damaging Het
Nsd3 T A 8: 26,130,646 (GRCm39) S4T probably damaging Het
Or5m10b T A 2: 85,699,714 (GRCm39) Y259* probably null Het
Or5p64 A G 7: 107,855,109 (GRCm39) S79P probably damaging Het
Pds5a T A 5: 65,809,782 (GRCm39) L393F probably damaging Het
Prex2 C T 1: 11,336,259 (GRCm39) R1486C probably damaging Het
Rc3h2 T C 2: 37,272,028 (GRCm39) T768A probably damaging Het
Rin3 A T 12: 102,335,584 (GRCm39) E418D probably benign Het
Rnf214 G T 9: 45,778,886 (GRCm39) T586N probably damaging Het
Samd4b A G 7: 28,101,285 (GRCm39) S667P probably damaging Het
Sec14l2 T C 11: 4,061,161 (GRCm39) Y100C probably damaging Het
Slc46a2 T C 4: 59,914,077 (GRCm39) E282G probably benign Het
Themis A C 10: 28,657,762 (GRCm39) N110T possibly damaging Het
Tln1 C A 4: 43,543,165 (GRCm39) S1333I probably benign Het
Tmem53 T C 4: 117,125,625 (GRCm39) V224A possibly damaging Het
Tmtc4 T A 14: 123,163,391 (GRCm39) K664N possibly damaging Het
Tnni3k T C 3: 154,674,922 (GRCm39) D201G probably damaging Het
Tnxb A G 17: 34,912,898 (GRCm39) E1681G probably damaging Het
Trhde A T 10: 114,340,103 (GRCm39) D567E probably damaging Het
Tsc2 T C 17: 24,828,101 (GRCm39) M788V probably benign Het
Ube3a A G 7: 58,926,650 (GRCm39) Y476C probably damaging Het
Ubiad1 T C 4: 148,520,682 (GRCm39) N314S possibly damaging Het
Unc79 T A 12: 103,139,771 (GRCm39) N2375K probably damaging Het
Vmn2r107 A T 17: 20,595,939 (GRCm39) I831F probably damaging Het
Vwa3b T A 1: 37,124,367 (GRCm39) C322S probably benign Het
Wnk1 A T 6: 119,939,916 (GRCm39) H238Q probably benign Het
Wnk2 A G 13: 49,300,081 (GRCm39) Y210H probably damaging Het
Wwc2 T C 8: 48,304,943 (GRCm39) D894G unknown Het
Yes1 T A 5: 32,810,381 (GRCm39) F180Y probably damaging Het
Yju2b T C 8: 84,985,318 (GRCm39) E317G probably benign Het
Zbtb46 T C 2: 181,033,062 (GRCm39) Y533C probably damaging Het
Zfp57 T C 17: 37,316,942 (GRCm39) S7P possibly damaging Het
Zzef1 T C 11: 72,802,090 (GRCm39) probably null Het
Other mutations in Golga4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00711:Golga4 APN 9 118,343,339 (GRCm39) critical splice donor site probably null
IGL00801:Golga4 APN 9 118,367,994 (GRCm39) missense probably damaging 0.98
IGL01395:Golga4 APN 9 118,364,441 (GRCm39) missense probably damaging 1.00
IGL01472:Golga4 APN 9 118,361,642 (GRCm39) missense probably damaging 1.00
IGL01519:Golga4 APN 9 118,356,160 (GRCm39) missense probably damaging 1.00
IGL01563:Golga4 APN 9 118,356,074 (GRCm39) splice site probably benign
IGL02593:Golga4 APN 9 118,384,634 (GRCm39) unclassified probably benign
IGL02803:Golga4 APN 9 118,364,528 (GRCm39) missense probably benign
IGL02939:Golga4 APN 9 118,363,700 (GRCm39) missense probably damaging 1.00
IGL02939:Golga4 APN 9 118,364,522 (GRCm39) missense probably benign 0.01
IGL03123:Golga4 APN 9 118,365,953 (GRCm39) missense probably damaging 1.00
IGL03334:Golga4 APN 9 118,366,301 (GRCm39) splice site probably benign
F5770:Golga4 UTSW 9 118,385,143 (GRCm39) missense possibly damaging 0.62
F6893:Golga4 UTSW 9 118,382,525 (GRCm39) missense probably damaging 1.00
PIT4382001:Golga4 UTSW 9 118,382,521 (GRCm39) missense possibly damaging 0.88
R0179:Golga4 UTSW 9 118,389,808 (GRCm39) critical splice acceptor site probably null
R0279:Golga4 UTSW 9 118,398,061 (GRCm39) missense probably benign 0.00
R0362:Golga4 UTSW 9 118,384,853 (GRCm39) missense probably benign 0.13
R0973:Golga4 UTSW 9 118,366,341 (GRCm39) missense probably damaging 1.00
R0973:Golga4 UTSW 9 118,366,341 (GRCm39) missense probably damaging 1.00
R0974:Golga4 UTSW 9 118,366,341 (GRCm39) missense probably damaging 1.00
R1128:Golga4 UTSW 9 118,377,852 (GRCm39) missense probably benign 0.40
R1384:Golga4 UTSW 9 118,394,719 (GRCm39) missense probably damaging 0.99
R1435:Golga4 UTSW 9 118,364,508 (GRCm39) missense probably benign 0.00
R1513:Golga4 UTSW 9 118,384,800 (GRCm39) missense probably benign 0.02
R1818:Golga4 UTSW 9 118,402,055 (GRCm39) missense probably damaging 1.00
R2083:Golga4 UTSW 9 118,361,658 (GRCm39) missense probably damaging 1.00
R2243:Golga4 UTSW 9 118,385,972 (GRCm39) missense probably benign 0.06
R2355:Golga4 UTSW 9 118,389,810 (GRCm39) missense probably benign 0.00
R2518:Golga4 UTSW 9 118,385,680 (GRCm39) missense probably damaging 1.00
R2921:Golga4 UTSW 9 118,388,411 (GRCm39) missense possibly damaging 0.49
R2922:Golga4 UTSW 9 118,388,411 (GRCm39) missense possibly damaging 0.49
R2923:Golga4 UTSW 9 118,388,411 (GRCm39) missense possibly damaging 0.49
R3121:Golga4 UTSW 9 118,386,448 (GRCm39) missense possibly damaging 0.68
R3424:Golga4 UTSW 9 118,363,715 (GRCm39) missense probably benign 0.16
R3909:Golga4 UTSW 9 118,387,804 (GRCm39) missense possibly damaging 0.82
R3913:Golga4 UTSW 9 118,368,039 (GRCm39) missense probably damaging 0.99
R4321:Golga4 UTSW 9 118,385,503 (GRCm39) missense probably damaging 1.00
R4358:Golga4 UTSW 9 118,380,946 (GRCm39) missense probably benign 0.16
R4483:Golga4 UTSW 9 118,343,254 (GRCm39) missense probably damaging 1.00
R4515:Golga4 UTSW 9 118,388,076 (GRCm39) missense probably benign 0.28
R4518:Golga4 UTSW 9 118,388,076 (GRCm39) missense probably benign 0.28
R4519:Golga4 UTSW 9 118,388,076 (GRCm39) missense probably benign 0.28
R4545:Golga4 UTSW 9 118,385,913 (GRCm39) missense probably damaging 1.00
R4546:Golga4 UTSW 9 118,385,913 (GRCm39) missense probably damaging 1.00
R4580:Golga4 UTSW 9 118,386,327 (GRCm39) missense probably benign 0.00
R4918:Golga4 UTSW 9 118,387,213 (GRCm39) missense probably damaging 1.00
R5007:Golga4 UTSW 9 118,387,368 (GRCm39) missense probably benign
R5045:Golga4 UTSW 9 118,394,724 (GRCm39) missense probably benign
R5232:Golga4 UTSW 9 118,335,626 (GRCm39) critical splice donor site probably null
R5256:Golga4 UTSW 9 118,385,569 (GRCm39) missense possibly damaging 0.93
R5502:Golga4 UTSW 9 118,388,125 (GRCm39) nonsense probably null
R5567:Golga4 UTSW 9 118,387,251 (GRCm39) missense probably damaging 1.00
R5576:Golga4 UTSW 9 118,382,602 (GRCm39) missense probably benign 0.13
R5771:Golga4 UTSW 9 118,387,351 (GRCm39) missense probably damaging 0.96
R5807:Golga4 UTSW 9 118,356,198 (GRCm39) missense probably damaging 0.99
R5860:Golga4 UTSW 9 118,387,174 (GRCm39) missense probably damaging 1.00
R6012:Golga4 UTSW 9 118,388,764 (GRCm39) missense possibly damaging 0.90
R6285:Golga4 UTSW 9 118,387,695 (GRCm39) nonsense probably null
R6299:Golga4 UTSW 9 118,386,438 (GRCm39) missense probably benign 0.03
R6552:Golga4 UTSW 9 118,343,299 (GRCm39) missense probably damaging 1.00
R6688:Golga4 UTSW 9 118,343,278 (GRCm39) missense possibly damaging 0.66
R6965:Golga4 UTSW 9 118,377,847 (GRCm39) missense probably damaging 1.00
R6987:Golga4 UTSW 9 118,387,600 (GRCm39) missense probably benign
R7212:Golga4 UTSW 9 118,365,908 (GRCm39) missense possibly damaging 0.80
R7426:Golga4 UTSW 9 118,388,563 (GRCm39) missense probably benign
R7431:Golga4 UTSW 9 118,388,799 (GRCm39) missense probably damaging 1.00
R7641:Golga4 UTSW 9 118,386,643 (GRCm39) missense probably benign 0.05
R7727:Golga4 UTSW 9 118,377,770 (GRCm39) missense probably damaging 1.00
R7729:Golga4 UTSW 9 118,385,131 (GRCm39) missense possibly damaging 0.51
R7811:Golga4 UTSW 9 118,361,643 (GRCm39) missense probably damaging 1.00
R7849:Golga4 UTSW 9 118,388,379 (GRCm39) missense possibly damaging 0.93
R7891:Golga4 UTSW 9 118,385,434 (GRCm39) missense probably damaging 1.00
R7976:Golga4 UTSW 9 118,365,836 (GRCm39) missense possibly damaging 0.49
R8275:Golga4 UTSW 9 118,361,627 (GRCm39) missense probably damaging 1.00
R8378:Golga4 UTSW 9 118,387,390 (GRCm39) missense probably benign 0.03
R8514:Golga4 UTSW 9 118,384,864 (GRCm39) missense possibly damaging 0.47
R8698:Golga4 UTSW 9 118,385,029 (GRCm39) missense probably damaging 0.97
R8856:Golga4 UTSW 9 118,385,779 (GRCm39) missense probably damaging 0.98
R9227:Golga4 UTSW 9 118,385,941 (GRCm39) missense possibly damaging 0.94
R9282:Golga4 UTSW 9 118,385,893 (GRCm39) missense probably damaging 1.00
RF022:Golga4 UTSW 9 118,387,057 (GRCm39) missense probably damaging 1.00
V7583:Golga4 UTSW 9 118,385,143 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- CTGTTGGCAGAGTTCCTTGTAAC -3'
(R):5'- ACACTCACAGAGCAGAGGTC -3'

Sequencing Primer
(F):5'- GCAGAGTTCCTTGTAACCCTTAGG -3'
(R):5'- AGCAGAGGTCAGCTGTCTCTTAC -3'
Posted On 2018-05-21