Incidental Mutation 'R7187:Golgb1'
ID 559387
Institutional Source Beutler Lab
Gene Symbol Golgb1
Ensembl Gene ENSMUSG00000034243
Gene Name golgi autoantigen, golgin subfamily b, macrogolgin 1
Synonyms Giantin, C130074L01Rik, F730017E11Rik, Gm6840, 6330407A06Rik
MMRRC Submission 045377-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R7187 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 36875140-36933085 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36916150 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1961 (Q1961K)
Ref Sequence ENSEMBL: ENSMUSP00000045239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039855] [ENSMUST00000114812]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039855
AA Change: Q1961K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: Q1961K

DomainStartEndE-ValueType
internal_repeat_2 24 61 7.47e-6 PROSPERO
low complexity region 87 107 N/A INTRINSIC
coiled coil region 130 219 N/A INTRINSIC
low complexity region 491 512 N/A INTRINSIC
internal_repeat_3 519 558 7.47e-6 PROSPERO
coiled coil region 563 594 N/A INTRINSIC
internal_repeat_4 627 661 3.38e-5 PROSPERO
coiled coil region 679 1121 N/A INTRINSIC
coiled coil region 1153 1240 N/A INTRINSIC
internal_repeat_4 1253 1288 3.38e-5 PROSPERO
low complexity region 1300 1314 N/A INTRINSIC
internal_repeat_1 1321 1352 3.51e-6 PROSPERO
low complexity region 1357 1369 N/A INTRINSIC
coiled coil region 1402 1755 N/A INTRINSIC
internal_repeat_2 1760 1798 7.47e-6 PROSPERO
internal_repeat_3 1761 1804 7.47e-6 PROSPERO
coiled coil region 1818 2034 N/A INTRINSIC
low complexity region 2291 2306 N/A INTRINSIC
internal_repeat_1 2351 2382 3.51e-6 PROSPERO
low complexity region 2400 2418 N/A INTRINSIC
low complexity region 2538 2549 N/A INTRINSIC
coiled coil region 2775 2827 N/A INTRINSIC
coiled coil region 2854 2943 N/A INTRINSIC
low complexity region 2964 2976 N/A INTRINSIC
coiled coil region 3007 3057 N/A INTRINSIC
coiled coil region 3117 3163 N/A INTRINSIC
transmembrane domain 3215 3237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114812
AA Change: Q1920K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: Q1920K

DomainStartEndE-ValueType
internal_repeat_2 24 61 6.71e-6 PROSPERO
low complexity region 87 107 N/A INTRINSIC
low complexity region 120 134 N/A INTRINSIC
low complexity region 143 154 N/A INTRINSIC
low complexity region 200 219 N/A INTRINSIC
low complexity region 450 471 N/A INTRINSIC
internal_repeat_3 478 517 6.71e-6 PROSPERO
coiled coil region 522 553 N/A INTRINSIC
internal_repeat_4 586 620 3.05e-5 PROSPERO
coiled coil region 638 1080 N/A INTRINSIC
coiled coil region 1112 1199 N/A INTRINSIC
internal_repeat_4 1212 1247 3.05e-5 PROSPERO
low complexity region 1259 1273 N/A INTRINSIC
internal_repeat_1 1280 1311 3.14e-6 PROSPERO
low complexity region 1316 1328 N/A INTRINSIC
coiled coil region 1361 1714 N/A INTRINSIC
internal_repeat_2 1719 1757 6.71e-6 PROSPERO
internal_repeat_3 1720 1763 6.71e-6 PROSPERO
coiled coil region 1777 1993 N/A INTRINSIC
low complexity region 2250 2265 N/A INTRINSIC
internal_repeat_1 2310 2341 3.14e-6 PROSPERO
low complexity region 2359 2377 N/A INTRINSIC
low complexity region 2497 2508 N/A INTRINSIC
coiled coil region 2734 2786 N/A INTRINSIC
coiled coil region 2813 2902 N/A INTRINSIC
low complexity region 2923 2935 N/A INTRINSIC
coiled coil region 2966 3016 N/A INTRINSIC
coiled coil region 3076 3122 N/A INTRINSIC
transmembrane domain 3174 3196 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: Homozygous knockout affects glycosylation of glycoproteins in the extra-cellular matrix of the palatal shelves, resulting in their failure to elevate and fuse, leading to cleft palate. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, other(2) Gene trapped(5)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,437,721 (GRCm38) Y716C probably damaging Het
Abcc1 A G 16: 14,466,997 (GRCm38) I1237V probably benign Het
Adam34 C T 8: 43,652,528 (GRCm38) A27T probably benign Het
Aff3 T C 1: 38,218,397 (GRCm38) S415G probably damaging Het
Ak7 T C 12: 105,745,273 (GRCm38) Y390H probably benign Het
Arap2 A C 5: 62,669,053 (GRCm38) M1056R probably damaging Het
Brf1 T C 12: 112,960,325 (GRCm38) Y676C unknown Het
Cachd1 T A 4: 100,976,355 (GRCm38) H776Q possibly damaging Het
Cacng7 T C 7: 3,336,667 (GRCm38) V28A probably damaging Het
Camk2g A T 14: 20,742,712 (GRCm38) D359E probably benign Het
Cd209b T C 8: 3,926,638 (GRCm38) D16G probably benign Het
Ceacam5 A G 7: 17,759,485 (GRCm38) E811G possibly damaging Het
Cecr2 T A 6: 120,756,686 (GRCm38) S545T probably benign Het
Cep55 T C 19: 38,060,358 (GRCm38) probably null Het
Ctif C A 18: 75,637,219 (GRCm38) V32L probably damaging Het
Cwc27 G A 13: 104,661,392 (GRCm38) A353V probably benign Het
Dclk3 T A 9: 111,484,996 (GRCm38) S713R probably damaging Het
Dlec1 C T 9: 119,112,146 (GRCm38) H255Y probably benign Het
Dlgap1 A G 17: 70,516,098 (GRCm38) H26R possibly damaging Het
Dydc1 C T 14: 41,078,094 (GRCm38) T19I possibly damaging Het
Efcab12 G A 6: 115,823,513 (GRCm38) P183L not run Het
Eri3 C A 4: 117,589,146 (GRCm38) Q219K probably benign Het
Fam135a A G 1: 24,044,214 (GRCm38) L310P probably damaging Het
Fgd5 T A 6: 91,988,291 (GRCm38) S502T possibly damaging Het
Fgf8 A G 19: 45,741,667 (GRCm38) S57P probably benign Het
Gls T C 1: 52,219,980 (GRCm38) E154G probably damaging Het
Gm21319 T C 12: 87,773,938 (GRCm38) probably benign Het
Gm28042 T C 2: 120,039,695 (GRCm38) L705P probably damaging Het
Herc3 C A 6: 58,856,631 (GRCm38) Q168K probably benign Het
Il31ra C A 13: 112,546,311 (GRCm38) C168F probably benign Het
Ino80 A T 2: 119,426,591 (GRCm38) D860E probably benign Het
Iqcm T G 8: 75,753,416 (GRCm38) L334R probably benign Het
Lrrk2 A G 15: 91,757,001 (GRCm38) D1587G possibly damaging Het
Map4 T A 9: 110,053,133 (GRCm38) V355E probably benign Het
Mapk13 T A 17: 28,776,387 (GRCm38) I194N probably damaging Het
Mtus2 A G 5: 148,076,705 (GRCm38) T103A probably benign Het
Naglu G T 11: 101,070,332 (GRCm38) G70W probably benign Het
Nlrp4f A T 13: 65,195,387 (GRCm38) M126K possibly damaging Het
Olfr1225 T C 2: 89,171,370 (GRCm38) probably benign Het
Olfr485 A T 7: 108,159,378 (GRCm38) V165E probably benign Het
Pdia4 T C 6: 47,813,259 (GRCm38) T16A unknown Het
Pou6f2 G A 13: 18,239,713 (GRCm38) A159V Het
Ripor1 A G 8: 105,617,874 (GRCm38) T547A probably benign Het
Rundc3b A G 5: 8,492,506 (GRCm38) S389P probably damaging Het
Sorbs1 G C 19: 40,376,800 (GRCm38) R180G probably benign Het
Spats2 T C 15: 99,212,173 (GRCm38) S484P probably benign Het
Supv3l1 G A 10: 62,435,549 (GRCm38) T403I probably damaging Het
Tacstd2 G A 6: 67,535,196 (GRCm38) R171W probably damaging Het
Taok2 A T 7: 126,872,380 (GRCm38) F542L probably damaging Het
Tbc1d31 T A 15: 57,938,063 (GRCm38) N331K possibly damaging Het
Tff2 A T 17: 31,142,226 (GRCm38) C118S probably damaging Het
Tmprss7 G A 16: 45,677,954 (GRCm38) T354I possibly damaging Het
Tmtc3 A T 10: 100,477,912 (GRCm38) F33I probably damaging Het
Tpbpa G A 13: 60,940,585 (GRCm38) probably benign Het
Ube3a G T 7: 59,275,905 (GRCm38) V165F probably benign Het
Vmn2r4 T G 3: 64,415,260 (GRCm38) T13P probably benign Het
Wnt8b A G 19: 44,511,682 (GRCm38) D236G probably benign Het
Ythdf3 C A 3: 16,204,287 (GRCm38) D210E probably benign Het
Zfp110 T A 7: 12,849,826 (GRCm38) Y800* probably null Het
Other mutations in Golgb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Golgb1 APN 16 36,931,564 (GRCm38) missense probably damaging 1.00
IGL01717:Golgb1 APN 16 36,915,502 (GRCm38) nonsense probably null
IGL01965:Golgb1 APN 16 36,917,920 (GRCm38) missense probably damaging 1.00
IGL02128:Golgb1 APN 16 36,916,304 (GRCm38) missense probably damaging 1.00
IGL02268:Golgb1 APN 16 36,913,128 (GRCm38) missense probably benign 0.25
IGL02383:Golgb1 APN 16 36,886,200 (GRCm38) missense probably benign 0.01
IGL02444:Golgb1 APN 16 36,907,816 (GRCm38) splice site probably benign
IGL02635:Golgb1 APN 16 36,915,013 (GRCm38) missense probably benign 0.00
IGL02655:Golgb1 APN 16 36,918,080 (GRCm38) missense probably damaging 0.98
IGL02887:Golgb1 APN 16 36,925,849 (GRCm38) missense probably damaging 0.99
IGL02937:Golgb1 APN 16 36,916,210 (GRCm38) missense probably damaging 1.00
IGL02973:Golgb1 APN 16 36,912,080 (GRCm38) missense possibly damaging 0.92
IGL02982:Golgb1 APN 16 36,925,810 (GRCm38) missense probably damaging 0.98
IGL03065:Golgb1 APN 16 36,912,866 (GRCm38) missense probably benign 0.11
IGL03109:Golgb1 APN 16 36,915,611 (GRCm38) missense possibly damaging 0.93
IGL03323:Golgb1 APN 16 36,913,453 (GRCm38) nonsense probably null
I2288:Golgb1 UTSW 16 36,898,542 (GRCm38) missense probably benign 0.00
I2289:Golgb1 UTSW 16 36,898,542 (GRCm38) missense probably benign 0.00
R0071:Golgb1 UTSW 16 36,915,503 (GRCm38) missense probably benign 0.00
R0071:Golgb1 UTSW 16 36,915,503 (GRCm38) missense probably benign 0.00
R0080:Golgb1 UTSW 16 36,898,611 (GRCm38) missense probably damaging 1.00
R0102:Golgb1 UTSW 16 36,875,468 (GRCm38) intron probably benign
R0242:Golgb1 UTSW 16 36,875,630 (GRCm38) nonsense probably null
R0242:Golgb1 UTSW 16 36,875,630 (GRCm38) nonsense probably null
R0276:Golgb1 UTSW 16 36,913,876 (GRCm38) missense probably damaging 1.00
R0394:Golgb1 UTSW 16 36,875,579 (GRCm38) intron probably benign
R0469:Golgb1 UTSW 16 36,931,635 (GRCm38) missense probably benign 0.41
R0522:Golgb1 UTSW 16 36,915,205 (GRCm38) frame shift probably null
R0575:Golgb1 UTSW 16 36,918,809 (GRCm38) missense probably benign
R0600:Golgb1 UTSW 16 36,916,271 (GRCm38) missense probably damaging 1.00
R0608:Golgb1 UTSW 16 36,916,330 (GRCm38) nonsense probably null
R0711:Golgb1 UTSW 16 36,918,790 (GRCm38) missense probably damaging 1.00
R0785:Golgb1 UTSW 16 36,898,790 (GRCm38) missense possibly damaging 0.95
R0893:Golgb1 UTSW 16 36,912,277 (GRCm38) missense possibly damaging 0.64
R1163:Golgb1 UTSW 16 36,916,126 (GRCm38) missense possibly damaging 0.50
R1208:Golgb1 UTSW 16 36,915,205 (GRCm38) frame shift probably null
R1315:Golgb1 UTSW 16 36,914,900 (GRCm38) missense probably benign 0.40
R1429:Golgb1 UTSW 16 36,900,563 (GRCm38) missense possibly damaging 0.93
R1505:Golgb1 UTSW 16 36,919,643 (GRCm38) missense possibly damaging 0.79
R1537:Golgb1 UTSW 16 36,898,788 (GRCm38) missense possibly damaging 0.89
R1610:Golgb1 UTSW 16 36,926,101 (GRCm38) missense probably benign 0.25
R1659:Golgb1 UTSW 16 36,887,617 (GRCm38) missense probably benign 0.01
R1769:Golgb1 UTSW 16 36,916,001 (GRCm38) missense probably damaging 1.00
R2105:Golgb1 UTSW 16 36,914,664 (GRCm38) missense probably benign
R2212:Golgb1 UTSW 16 36,887,347 (GRCm38) missense probably damaging 1.00
R2261:Golgb1 UTSW 16 36,893,360 (GRCm38) missense probably damaging 1.00
R2352:Golgb1 UTSW 16 36,898,559 (GRCm38) missense probably damaging 0.99
R2357:Golgb1 UTSW 16 36,912,008 (GRCm38) missense probably damaging 1.00
R2400:Golgb1 UTSW 16 36,918,466 (GRCm38) missense possibly damaging 0.62
R2513:Golgb1 UTSW 16 36,915,151 (GRCm38) missense possibly damaging 0.73
R3103:Golgb1 UTSW 16 36,894,849 (GRCm38) missense probably damaging 1.00
R3413:Golgb1 UTSW 16 36,887,347 (GRCm38) missense probably damaging 1.00
R3748:Golgb1 UTSW 16 36,918,912 (GRCm38) missense probably benign 0.00
R3847:Golgb1 UTSW 16 36,898,733 (GRCm38) missense probably benign 0.00
R3850:Golgb1 UTSW 16 36,898,733 (GRCm38) missense probably benign 0.00
R3936:Golgb1 UTSW 16 36,914,056 (GRCm38) nonsense probably null
R3975:Golgb1 UTSW 16 36,918,571 (GRCm38) missense probably damaging 0.99
R4025:Golgb1 UTSW 16 36,915,344 (GRCm38) missense probably benign 0.00
R4369:Golgb1 UTSW 16 36,916,907 (GRCm38) missense probably damaging 1.00
R4518:Golgb1 UTSW 16 36,929,263 (GRCm38) missense probably damaging 0.98
R4600:Golgb1 UTSW 16 36,918,625 (GRCm38) missense probably damaging 1.00
R4610:Golgb1 UTSW 16 36,918,625 (GRCm38) missense probably damaging 1.00
R4660:Golgb1 UTSW 16 36,887,618 (GRCm38) missense probably damaging 0.99
R4811:Golgb1 UTSW 16 36,891,419 (GRCm38) missense probably damaging 1.00
R4815:Golgb1 UTSW 16 36,913,115 (GRCm38) missense possibly damaging 0.79
R4835:Golgb1 UTSW 16 36,891,407 (GRCm38) missense possibly damaging 0.86
R4904:Golgb1 UTSW 16 36,893,386 (GRCm38) missense probably damaging 1.00
R4916:Golgb1 UTSW 16 36,916,118 (GRCm38) missense probably benign 0.05
R5121:Golgb1 UTSW 16 36,919,258 (GRCm38) missense probably damaging 0.99
R5133:Golgb1 UTSW 16 36,891,457 (GRCm38) missense possibly damaging 0.75
R5143:Golgb1 UTSW 16 36,898,689 (GRCm38) missense probably benign 0.09
R5185:Golgb1 UTSW 16 36,875,141 (GRCm38) unclassified probably benign
R5188:Golgb1 UTSW 16 36,918,465 (GRCm38) missense probably benign 0.13
R5260:Golgb1 UTSW 16 36,913,141 (GRCm38) missense probably benign 0.00
R5297:Golgb1 UTSW 16 36,875,616 (GRCm38) intron probably benign
R5386:Golgb1 UTSW 16 36,912,315 (GRCm38) nonsense probably null
R5438:Golgb1 UTSW 16 36,900,508 (GRCm38) missense probably benign 0.15
R5439:Golgb1 UTSW 16 36,900,508 (GRCm38) missense probably benign 0.15
R5494:Golgb1 UTSW 16 36,928,683 (GRCm38) missense possibly damaging 0.67
R5592:Golgb1 UTSW 16 36,925,763 (GRCm38) missense probably benign 0.02
R5740:Golgb1 UTSW 16 36,919,000 (GRCm38) missense probably damaging 0.99
R5862:Golgb1 UTSW 16 36,926,091 (GRCm38) splice site silent
R5928:Golgb1 UTSW 16 36,911,987 (GRCm38) missense probably damaging 1.00
R6009:Golgb1 UTSW 16 36,914,959 (GRCm38) missense probably damaging 1.00
R6062:Golgb1 UTSW 16 36,914,671 (GRCm38) missense possibly damaging 0.89
R6102:Golgb1 UTSW 16 36,912,865 (GRCm38) missense probably damaging 1.00
R6198:Golgb1 UTSW 16 36,893,395 (GRCm38) missense probably damaging 1.00
R6253:Golgb1 UTSW 16 36,915,622 (GRCm38) missense possibly damaging 0.77
R6254:Golgb1 UTSW 16 36,913,978 (GRCm38) missense probably damaging 0.99
R6321:Golgb1 UTSW 16 36,918,197 (GRCm38) nonsense probably null
R6700:Golgb1 UTSW 16 36,875,584 (GRCm38) intron probably benign
R6870:Golgb1 UTSW 16 36,918,203 (GRCm38) missense probably damaging 1.00
R6882:Golgb1 UTSW 16 36,913,990 (GRCm38) missense probably benign
R6944:Golgb1 UTSW 16 36,912,113 (GRCm38) missense probably benign
R7108:Golgb1 UTSW 16 36,913,721 (GRCm38) missense probably benign 0.01
R7124:Golgb1 UTSW 16 36,913,673 (GRCm38) missense probably benign 0.01
R7125:Golgb1 UTSW 16 36,917,963 (GRCm38) missense possibly damaging 0.85
R7205:Golgb1 UTSW 16 36,875,301 (GRCm38) missense unknown
R7206:Golgb1 UTSW 16 36,913,749 (GRCm38) missense probably benign 0.41
R7233:Golgb1 UTSW 16 36,914,758 (GRCm38) missense possibly damaging 0.91
R7320:Golgb1 UTSW 16 36,915,951 (GRCm38) nonsense probably null
R7367:Golgb1 UTSW 16 36,898,546 (GRCm38) missense probably benign 0.00
R7408:Golgb1 UTSW 16 36,898,547 (GRCm38) missense probably damaging 0.98
R7419:Golgb1 UTSW 16 36,912,919 (GRCm38) missense possibly damaging 0.95
R7556:Golgb1 UTSW 16 36,915,793 (GRCm38) missense probably benign 0.03
R7599:Golgb1 UTSW 16 36,875,396 (GRCm38) missense unknown
R7673:Golgb1 UTSW 16 36,913,669 (GRCm38) missense probably benign 0.05
R7789:Golgb1 UTSW 16 36,875,399 (GRCm38) missense unknown
R7792:Golgb1 UTSW 16 36,918,730 (GRCm38) missense probably benign 0.43
R7830:Golgb1 UTSW 16 36,898,721 (GRCm38) missense possibly damaging 0.93
R7847:Golgb1 UTSW 16 36,931,920 (GRCm38) missense probably damaging 1.00
R7905:Golgb1 UTSW 16 36,913,685 (GRCm38) missense probably benign
R7944:Golgb1 UTSW 16 36,914,104 (GRCm38) missense probably benign 0.02
R7945:Golgb1 UTSW 16 36,914,104 (GRCm38) missense probably benign 0.02
R7950:Golgb1 UTSW 16 36,915,424 (GRCm38) missense probably benign 0.13
R8040:Golgb1 UTSW 16 36,913,479 (GRCm38) missense possibly damaging 0.85
R8077:Golgb1 UTSW 16 36,918,633 (GRCm38) missense probably damaging 0.99
R8181:Golgb1 UTSW 16 36,916,830 (GRCm38) missense probably damaging 1.00
R8370:Golgb1 UTSW 16 36,912,317 (GRCm38) missense probably benign 0.00
R8684:Golgb1 UTSW 16 36,914,402 (GRCm38) missense possibly damaging 0.92
R8725:Golgb1 UTSW 16 36,919,201 (GRCm38) missense probably damaging 1.00
R8727:Golgb1 UTSW 16 36,919,201 (GRCm38) missense probably damaging 1.00
R8738:Golgb1 UTSW 16 36,916,313 (GRCm38) missense probably damaging 1.00
R8785:Golgb1 UTSW 16 36,919,744 (GRCm38) missense probably damaging 0.99
R8824:Golgb1 UTSW 16 36,915,689 (GRCm38) missense probably benign
R8825:Golgb1 UTSW 16 36,919,447 (GRCm38) missense probably benign 0.00
R8940:Golgb1 UTSW 16 36,916,397 (GRCm38) missense probably damaging 1.00
R8962:Golgb1 UTSW 16 36,913,616 (GRCm38) missense probably damaging 1.00
R9245:Golgb1 UTSW 16 36,918,819 (GRCm38) nonsense probably null
R9365:Golgb1 UTSW 16 36,915,762 (GRCm38) missense probably damaging 1.00
R9612:Golgb1 UTSW 16 36,919,605 (GRCm38) missense probably benign 0.41
R9620:Golgb1 UTSW 16 36,919,449 (GRCm38) missense probably benign
R9691:Golgb1 UTSW 16 36,898,634 (GRCm38) missense probably damaging 1.00
R9747:Golgb1 UTSW 16 36,893,407 (GRCm38) missense probably damaging 1.00
V1662:Golgb1 UTSW 16 36,898,542 (GRCm38) missense probably benign 0.00
X0067:Golgb1 UTSW 16 36,914,303 (GRCm38) nonsense probably null
Z1088:Golgb1 UTSW 16 36,919,742 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACCAAGCTGAAGGAGACG -3'
(R):5'- GACTCGGTGTGAACGAACTC -3'

Sequencing Primer
(F):5'- CTGAAGGAGACGGCAGAAG -3'
(R):5'- TGAACGAACTCGAGGGCCTTG -3'
Posted On 2019-06-26