Incidental Mutation 'R1610:Golgb1'
ID 176760
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 039647-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R1610 (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 36926101 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2951 (T2951A)
Ref Sequence ENSEMBL: ENSMUSP00000110460 (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: T2992A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: T2992A

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: T2951A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: T2951A

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: ENSMUST00000152864
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik G T 6: 96,165,289 (GRCm38) P258Q probably damaging Het
4930452B06Rik G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Acbd5 G A 2: 23,090,551 (GRCm38) C312Y probably damaging Het
Adgrl1 T A 8: 83,932,373 (GRCm38) M601K probably benign Het
Agbl4 G A 4: 111,657,168 (GRCm38) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,489,754 (GRCm38) probably null Het
Casz1 C T 4: 148,929,087 (GRCm38) A36V possibly damaging Het
Chpf A G 1: 75,476,648 (GRCm38) V327A probably damaging Het
Cldn23 A G 8: 35,825,930 (GRCm38) Y135H probably damaging Het
Cobll1 C T 2: 65,133,642 (GRCm38) D211N probably damaging Het
Cramp1l A G 17: 24,983,951 (GRCm38) V368A probably benign Het
Dnah6 T C 6: 73,144,963 (GRCm38) T1374A probably benign Het
Dpyd A G 3: 119,065,006 (GRCm38) H623R probably benign Het
Dyrk2 T C 10: 118,859,925 (GRCm38) N476S probably benign Het
Endog A T 2: 30,173,887 (GRCm38) I267F probably damaging Het
Ephb6 A T 6: 41,614,373 (GRCm38) K155* probably null Het
Far2 T C 6: 148,157,458 (GRCm38) V214A possibly damaging Het
Fat2 A G 11: 55,278,924 (GRCm38) V3003A probably damaging Het
Frg2f1 T A 4: 119,531,288 (GRCm38) T5S possibly damaging Het
Gm14496 A T 2: 181,996,179 (GRCm38) T349S probably benign Het
Hc G T 2: 35,006,161 (GRCm38) D1203E probably benign Het
Isg20 C A 7: 78,914,509 (GRCm38) Q55K possibly damaging Het
Jph4 G T 14: 55,114,103 (GRCm38) A152E probably damaging Het
Kcnq3 T C 15: 66,025,260 (GRCm38) T264A probably damaging Het
Kcnq5 T G 1: 21,457,461 (GRCm38) T463P probably damaging Het
Klra8 A G 6: 130,119,018 (GRCm38) S204P probably damaging Het
Ldlrad1 A G 4: 107,214,875 (GRCm38) D98G probably damaging Het
Lhfpl4 T C 6: 113,194,136 (GRCm38) T30A possibly damaging Het
Lig1 T A 7: 13,285,340 (GRCm38) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,612 (GRCm38) Y558C probably benign Het
Lrrn3 G T 12: 41,452,993 (GRCm38) L442I possibly damaging Het
Mc2r A G 18: 68,407,448 (GRCm38) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm38) T137A probably benign Het
Nfatc2ip A T 7: 126,387,407 (GRCm38) S359T probably damaging Het
Nup214 C T 2: 32,034,466 (GRCm38) S1669F probably damaging Het
Olfr1193 A T 2: 88,678,574 (GRCm38) K233* probably null Het
Olfr1229 T C 2: 89,282,821 (GRCm38) H104R probably damaging Het
Olfr514 T A 7: 108,825,924 (GRCm38) H25L probably benign Het
Olfr904 C T 9: 38,464,631 (GRCm38) L197F probably damaging Het
Plagl1 C T 10: 13,128,962 (GRCm38) probably benign Het
Plxnb2 A T 15: 89,158,493 (GRCm38) S1531T probably damaging Het
Ptpn22 G A 3: 103,902,196 (GRCm38) probably null Het
Rtn1 T A 12: 72,219,279 (GRCm38) Q174L possibly damaging Het
Selenoo A G 15: 89,099,916 (GRCm38) E645G probably benign Het
Serpina1a A C 12: 103,853,837 (GRCm38) D383E possibly damaging Het
Slc6a18 T A 13: 73,668,225 (GRCm38) Y345F probably benign Het
Smbd1 A G 16: 32,806,765 (GRCm38) V51A possibly damaging Het
Tchh C T 3: 93,444,839 (GRCm38) R529W unknown Het
Tmem206 A G 1: 191,345,065 (GRCm38) D195G probably benign Het
Tonsl A T 15: 76,638,557 (GRCm38) Y165N probably damaging Het
Trdmt1 G A 2: 13,516,059 (GRCm38) T344I probably damaging Het
Ubash3b C A 9: 41,043,500 (GRCm38) R116L probably damaging Het
Vmn2r94 A G 17: 18,243,733 (GRCm38) V765A probably damaging Het
Zfp474 C T 18: 52,638,365 (GRCm38) T30I 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
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
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'- GGGTGCCACTACCCAAAAGCATAAG -3'
(R):5'- GGGAGATGCCCACACATTCCTAAC -3'

Sequencing Primer
(F):5'- AAGCATAAGCTGCCTCCAG -3'
(R):5'- GTGTTCTTGCTCTGGAATAAACACC -3'
Posted On 2014-04-24