Incidental Mutation 'R3103:Golgb1'
ID 262926
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 040577-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R3103 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36875140-36933085 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36894849 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 226 (R226G)
Ref Sequence ENSEMBL: ENSMUSP00000110460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039855] [ENSMUST00000114812]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039855
AA Change: R267G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: R267G

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 damaging
Transcript: ENSMUST00000114812
AA Change: R226G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: R226G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231790
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,610,984 (GRCm38) probably null Het
Adap2 G T 11: 80,157,033 (GRCm38) C105F probably damaging Het
Bace2 T C 16: 97,422,001 (GRCm38) probably null Het
Bpifc A G 10: 85,993,422 (GRCm38) S94P probably damaging Het
C2cd3 A G 7: 100,395,252 (GRCm38) D347G possibly damaging Het
Cad T C 5: 31,061,674 (GRCm38) V613A possibly damaging Het
Ccdc47 T C 11: 106,202,841 (GRCm38) H6R probably benign Het
Celsr3 A G 9: 108,837,139 (GRCm38) T1956A probably benign Het
Cep128 T A 12: 91,019,344 (GRCm38) D1006V probably damaging Het
Cog3 T C 14: 75,747,201 (GRCm38) probably null Het
Csmd1 C T 8: 15,917,405 (GRCm38) V3153M probably damaging Het
Ctnna2 T C 6: 77,653,144 (GRCm38) E122G possibly damaging Het
Cts8 T A 13: 61,250,958 (GRCm38) I245F probably damaging Het
Ddx27 T A 2: 167,026,246 (GRCm38) V333E probably damaging Het
Dmpk A G 7: 19,087,654 (GRCm38) Y279C probably damaging Het
Dpagt1 A G 9: 44,327,995 (GRCm38) I111V probably benign Het
Dvl2 C A 11: 70,008,869 (GRCm38) P546T possibly damaging Het
Fat4 G T 3: 38,891,940 (GRCm38) A1661S probably benign Het
Gcm1 A G 9: 78,064,452 (GRCm38) N225S probably damaging Het
Gcnt2 A T 13: 40,918,606 (GRCm38) M242L probably benign Het
Gpr63 G A 4: 25,007,353 (GRCm38) V26I probably benign Het
Grik2 A G 10: 49,240,772 (GRCm38) L631P probably damaging Het
Hapln3 T C 7: 79,121,736 (GRCm38) D135G probably benign Het
Il31ra C A 13: 112,530,351 (GRCm38) V398F probably damaging Het
Ipp G T 4: 116,524,249 (GRCm38) R315L possibly damaging Het
Kcmf1 A G 6: 72,861,847 (GRCm38) L32P probably damaging Het
Klf17 T A 4: 117,760,608 (GRCm38) Q184L possibly damaging Het
Lrp2 C T 2: 69,431,984 (GRCm38) V4442I probably benign Het
Lrrfip2 A T 9: 111,222,210 (GRCm38) E293D probably damaging Het
Oit3 A G 10: 59,438,891 (GRCm38) I29T probably damaging Het
Olfr403 G A 11: 74,196,075 (GRCm38) D191N probably benign Het
Olfr50 T C 2: 36,793,562 (GRCm38) C109R possibly damaging Het
Olfr555 T C 7: 102,659,481 (GRCm38) V220A probably benign Het
Plb1 T A 5: 32,328,029 (GRCm38) M842K possibly damaging Het
Ppt1 T C 4: 122,836,307 (GRCm38) C18R probably benign Het
Pstpip2 T C 18: 77,871,777 (GRCm38) Y191H probably damaging Het
Ryr1 C T 7: 29,074,948 (GRCm38) V2361I probably damaging Het
Serpinb11 A G 1: 107,377,608 (GRCm38) N238S probably benign Het
Skor2 A T 18: 76,859,278 (GRCm38) K232* probably null Het
Slc13a5 A T 11: 72,257,388 (GRCm38) W231R probably damaging Het
Svs5 A T 2: 164,333,393 (GRCm38) E55V probably benign Het
Tfcp2 A T 15: 100,525,600 (GRCm38) W142R probably damaging Het
Trpc2 A T 7: 102,095,234 (GRCm38) I738F possibly damaging Het
Vmn2r61 T A 7: 42,266,643 (GRCm38) S227T possibly damaging Het
Zfhx4 A G 3: 5,399,326 (GRCm38) T1540A probably damaging Het
Zfp616 A G 11: 74,071,735 (GRCm38) T74A probably benign 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
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
R7187:Golgb1 UTSW 16 36,916,150 (GRCm38) missense probably benign 0.43
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'- CTCTGGAGAAGGCATTTTGGAG -3'
(R):5'- AGCCTCTGAAAGCTCATGGG -3'

Sequencing Primer
(F):5'- GAGAAGGCATTTTGGAGATTCTC -3'
(R):5'- AGCTCATGGGCTTTTATACCCTG -3'
Posted On 2015-02-05