Incidental Mutation 'R1747:Glg1'
ID 194054
Institutional Source Beutler Lab
Gene Symbol Glg1
Ensembl Gene ENSMUSG00000003316
Gene Name golgi apparatus protein 1
Synonyms MG160, CFR-1, MG-160, Selel, ESL-1, CFR
MMRRC Submission 039779-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # R1747 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111881053-111985848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111924305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 228 (R228C)
Ref Sequence ENSEMBL: ENSMUSP00000131355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003404] [ENSMUST00000164283] [ENSMUST00000169020]
AlphaFold Q61543
Predicted Effect probably damaging
Transcript: ENSMUST00000003404
AA Change: R217C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: R217C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cys_rich_FGFR 141 197 3.1e-13 PFAM
Pfam:Cys_rich_FGFR 199 263 1.3e-16 PFAM
Pfam:Cys_rich_FGFR 274 331 1.5e-16 PFAM
Pfam:Cys_rich_FGFR 334 398 1.6e-16 PFAM
Pfam:Cys_rich_FGFR 402 458 1.8e-15 PFAM
Pfam:Cys_rich_FGFR 463 522 2.3e-16 PFAM
Pfam:Cys_rich_FGFR 525 589 5.8e-19 PFAM
Pfam:Cys_rich_FGFR 597 653 6e-17 PFAM
Pfam:Cys_rich_FGFR 654 714 2e-14 PFAM
Pfam:Cys_rich_FGFR 717 773 4.7e-14 PFAM
Pfam:Cys_rich_FGFR 784 841 1e-18 PFAM
Pfam:Cys_rich_FGFR 842 897 4.2e-17 PFAM
Pfam:Cys_rich_FGFR 900 964 2.1e-21 PFAM
Pfam:Cys_rich_FGFR 967 1027 3.5e-16 PFAM
Pfam:Cys_rich_FGFR 1029 1086 8e-17 PFAM
transmembrane domain 1131 1153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102427
Predicted Effect probably damaging
Transcript: ENSMUST00000164283
AA Change: R228C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: R228C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cys_rich_FGFR 149 208 2.3e-16 PFAM
Pfam:Cys_rich_FGFR 210 267 1.3e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169020
AA Change: R228C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: R228C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cys_rich_FGFR 149 208 2.9e-15 PFAM
Pfam:Cys_rich_FGFR 210 274 1.3e-16 PFAM
Pfam:Cys_rich_FGFR 285 342 1.4e-16 PFAM
Pfam:Cys_rich_FGFR 345 409 7.2e-16 PFAM
Pfam:Cys_rich_FGFR 413 469 8.4e-16 PFAM
Pfam:Cys_rich_FGFR 474 533 6.4e-17 PFAM
Pfam:Cys_rich_FGFR 536 600 2.7e-16 PFAM
Pfam:Cys_rich_FGFR 608 664 2.6e-17 PFAM
Pfam:Cys_rich_FGFR 665 725 1.2e-13 PFAM
Pfam:Cys_rich_FGFR 728 784 2.6e-11 PFAM
Pfam:Cys_rich_FGFR 795 852 1.4e-18 PFAM
Pfam:Cys_rich_FGFR 853 908 1.1e-15 PFAM
Pfam:Cys_rich_FGFR 911 975 1e-19 PFAM
Pfam:Cys_rich_FGFR 978 1038 1.3e-15 PFAM
Pfam:Cys_rich_FGFR 1040 1097 6e-17 PFAM
transmembrane domain 1142 1164 N/A INTRINSIC
Meta Mutation Damage Score 0.5914 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency 97% (65/67)
MGI Phenotype PHENOTYPE: Nullizygous mice show smaller size, narrow rib cages, short and thin bony elements, and reduced chondrocyte proliferation and growth plates. Homozygotes for a gene trap allele show postnatal death, small size, distorted tails and cleft palate. Homozygotes for another gene trap allele die by E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C T 8: 13,608,814 (GRCm39) S117N probably damaging Het
Acat3 A G 17: 13,143,695 (GRCm39) I349T possibly damaging Het
Add3 A G 19: 53,230,981 (GRCm39) N552S probably benign Het
Ak3 G T 19: 29,000,261 (GRCm39) P217T possibly damaging Het
Aox1 A T 1: 58,378,751 (GRCm39) D1000V probably benign Het
Ap1m2 A G 9: 21,216,982 (GRCm39) M118T probably damaging Het
Arhgap28 C A 17: 68,208,304 (GRCm39) A105S probably benign Het
Arhgef28 T C 13: 98,073,332 (GRCm39) E1368G probably damaging Het
Armc7 G A 11: 115,379,583 (GRCm39) V94I probably benign Het
Asxl1 C A 2: 153,235,374 (GRCm39) T223N possibly damaging Het
Btbd8 T C 5: 107,599,865 (GRCm39) S119P probably damaging Het
Cltc T C 11: 86,597,907 (GRCm39) K1078E probably damaging Het
Cpne8 G A 15: 90,469,118 (GRCm39) T158I probably benign Het
Csn1s2b T C 5: 87,964,529 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,041,568 (GRCm39) I371V probably benign Het
Dennd4c T C 4: 86,725,675 (GRCm39) F710L probably damaging Het
Diaph3 T C 14: 87,310,773 (GRCm39) D126G probably damaging Het
Dnm3 G A 1: 162,141,153 (GRCm39) R369C probably damaging Het
Dst A C 1: 34,199,790 (GRCm39) Q86P probably damaging Het
Ern2 C A 7: 121,773,042 (GRCm39) probably null Het
Ern2 T A 7: 121,773,043 (GRCm39) probably null Het
Exoc6 T A 19: 37,628,217 (GRCm39) probably null Het
Gm4736 G A 6: 132,092,633 (GRCm39) noncoding transcript Het
Hmcn2 G C 2: 31,347,997 (GRCm39) G4881A probably benign Het
Htr2a T G 14: 74,943,593 (GRCm39) F391C probably damaging Het
Htr5b A T 1: 121,455,647 (GRCm39) V91E probably damaging Het
Ifi44 T A 3: 151,454,922 (GRCm39) H101L probably benign Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Klhl6 T A 16: 19,765,778 (GRCm39) H608L probably benign Het
Lrp4 T C 2: 91,322,966 (GRCm39) V1150A probably damaging Het
Lyst T C 13: 13,932,007 (GRCm39) F3545S probably benign Het
Magi3 T C 3: 103,941,489 (GRCm39) D822G possibly damaging Het
Nbas G A 12: 13,385,899 (GRCm39) S721N probably benign Het
Nog T A 11: 89,192,408 (GRCm39) M147L probably benign Het
Npr1 C T 3: 90,365,976 (GRCm39) C605Y possibly damaging Het
Or7e173 A C 9: 19,938,613 (GRCm39) V207G probably benign Het
Or8k21 G A 2: 86,145,211 (GRCm39) L140F probably benign Het
Pgs1 A G 11: 117,892,457 (GRCm39) S10G probably benign Het
Pla2g4c T C 7: 13,071,655 (GRCm39) probably benign Het
Prdm14 C T 1: 13,192,627 (GRCm39) V371I possibly damaging Het
Prom1 C T 5: 44,164,373 (GRCm39) V703I probably benign Het
Ptprk A G 10: 28,230,688 (GRCm39) T260A possibly damaging Het
Scnn1g A T 7: 121,359,686 (GRCm39) I390F probably damaging Het
Scrt2 C T 2: 151,935,638 (GRCm39) H264Y probably damaging Het
Sel1l3 C T 5: 53,302,887 (GRCm39) E661K possibly damaging Het
Skic2 G T 17: 35,066,782 (GRCm39) P162H probably benign Het
Slc10a5 G T 3: 10,400,451 (GRCm39) Q70K probably benign Het
Smg8 A G 11: 86,976,129 (GRCm39) V484A possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stag1 T A 9: 100,770,353 (GRCm39) S630T probably benign Het
Thyn1 A C 9: 26,916,509 (GRCm39) Q98P probably damaging Het
Ttc7 A G 17: 87,614,443 (GRCm39) R203G possibly damaging Het
Ttn T C 2: 76,708,860 (GRCm39) probably benign Het
Vmn1r236 C T 17: 21,507,179 (GRCm39) S99L probably benign Het
Vmn2r50 T A 7: 9,781,605 (GRCm39) H380L probably benign Het
Vmn2r73 A T 7: 85,507,375 (GRCm39) C646S probably damaging Het
Wnt10b A G 15: 98,672,214 (GRCm39) S168P probably benign Het
Zc3h7a A G 16: 10,963,117 (GRCm39) M748T possibly damaging Het
Zfp804b C G 5: 6,820,217 (GRCm39) E913Q probably benign Het
Zfp974 G T 7: 27,610,506 (GRCm39) F406L possibly damaging Het
Zic4 G A 9: 91,266,199 (GRCm39) C274Y probably damaging Het
Other mutations in Glg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Glg1 APN 8 111,886,481 (GRCm39) missense probably damaging 1.00
IGL01326:Glg1 APN 8 111,909,205 (GRCm39) missense probably damaging 0.96
IGL01558:Glg1 APN 8 111,914,362 (GRCm39) missense probably benign 0.00
IGL01798:Glg1 APN 8 111,919,332 (GRCm39) missense possibly damaging 0.58
IGL02651:Glg1 APN 8 111,887,359 (GRCm39) missense possibly damaging 0.76
IGL03124:Glg1 APN 8 111,926,803 (GRCm39) missense probably damaging 1.00
IGL03374:Glg1 APN 8 111,889,412 (GRCm39) missense probably damaging 1.00
IGL03404:Glg1 APN 8 111,886,534 (GRCm39) missense probably damaging 1.00
diabolical UTSW 8 111,895,375 (GRCm39) missense probably damaging 1.00
BB007:Glg1 UTSW 8 111,887,367 (GRCm39) missense possibly damaging 0.46
BB017:Glg1 UTSW 8 111,887,367 (GRCm39) missense possibly damaging 0.46
PIT4362001:Glg1 UTSW 8 111,985,431 (GRCm39) missense possibly damaging 0.80
R0047:Glg1 UTSW 8 111,892,214 (GRCm39) missense probably damaging 1.00
R0047:Glg1 UTSW 8 111,892,214 (GRCm39) missense probably damaging 1.00
R0255:Glg1 UTSW 8 111,886,490 (GRCm39) missense possibly damaging 0.82
R0432:Glg1 UTSW 8 111,909,201 (GRCm39) missense probably damaging 1.00
R0458:Glg1 UTSW 8 111,887,238 (GRCm39) splice site probably benign
R0635:Glg1 UTSW 8 111,890,396 (GRCm39) splice site probably benign
R0765:Glg1 UTSW 8 111,886,429 (GRCm39) critical splice donor site probably null
R1104:Glg1 UTSW 8 111,924,235 (GRCm39) missense probably benign 0.01
R1495:Glg1 UTSW 8 111,924,307 (GRCm39) missense probably damaging 1.00
R1899:Glg1 UTSW 8 111,892,306 (GRCm39) missense probably benign 0.23
R1950:Glg1 UTSW 8 111,892,271 (GRCm39) missense possibly damaging 0.79
R2074:Glg1 UTSW 8 111,895,303 (GRCm39) missense probably damaging 1.00
R2112:Glg1 UTSW 8 111,919,178 (GRCm39) missense probably damaging 1.00
R2275:Glg1 UTSW 8 111,895,353 (GRCm39) nonsense probably null
R2342:Glg1 UTSW 8 111,914,439 (GRCm39) nonsense probably null
R4633:Glg1 UTSW 8 111,904,276 (GRCm39) critical splice donor site probably null
R4716:Glg1 UTSW 8 111,887,407 (GRCm39) nonsense probably null
R4732:Glg1 UTSW 8 111,914,387 (GRCm39) missense probably damaging 1.00
R4733:Glg1 UTSW 8 111,914,387 (GRCm39) missense probably damaging 1.00
R5594:Glg1 UTSW 8 111,914,513 (GRCm39) missense probably damaging 1.00
R5722:Glg1 UTSW 8 111,896,194 (GRCm39) missense possibly damaging 0.67
R5951:Glg1 UTSW 8 111,892,323 (GRCm39) missense possibly damaging 0.64
R5958:Glg1 UTSW 8 111,985,736 (GRCm39) missense probably benign 0.01
R6090:Glg1 UTSW 8 111,907,667 (GRCm39) missense probably damaging 1.00
R6476:Glg1 UTSW 8 111,926,806 (GRCm39) missense possibly damaging 0.94
R6480:Glg1 UTSW 8 111,924,338 (GRCm39) missense possibly damaging 0.89
R6819:Glg1 UTSW 8 111,914,513 (GRCm39) missense probably damaging 1.00
R7116:Glg1 UTSW 8 111,905,589 (GRCm39) missense probably benign 0.22
R7293:Glg1 UTSW 8 111,895,375 (GRCm39) missense probably damaging 1.00
R7431:Glg1 UTSW 8 111,887,386 (GRCm39) missense unknown
R7479:Glg1 UTSW 8 111,924,367 (GRCm39) missense possibly damaging 0.91
R7509:Glg1 UTSW 8 111,985,675 (GRCm39) missense probably benign 0.04
R7547:Glg1 UTSW 8 111,914,393 (GRCm39) missense possibly damaging 0.89
R7678:Glg1 UTSW 8 111,905,497 (GRCm39) missense probably benign 0.19
R7930:Glg1 UTSW 8 111,887,367 (GRCm39) missense possibly damaging 0.46
R8182:Glg1 UTSW 8 111,897,929 (GRCm39) missense possibly damaging 0.88
R8383:Glg1 UTSW 8 111,896,194 (GRCm39) missense possibly damaging 0.67
R8787:Glg1 UTSW 8 111,888,114 (GRCm39) missense probably damaging 0.99
R8905:Glg1 UTSW 8 111,884,668 (GRCm39) missense probably damaging 0.99
R8954:Glg1 UTSW 8 111,914,527 (GRCm39) missense probably damaging 1.00
R8958:Glg1 UTSW 8 111,899,116 (GRCm39) nonsense probably null
R9023:Glg1 UTSW 8 111,904,380 (GRCm39) missense probably damaging 0.99
R9113:Glg1 UTSW 8 111,887,452 (GRCm39) intron probably benign
R9359:Glg1 UTSW 8 111,914,425 (GRCm39) missense probably benign 0.08
R9403:Glg1 UTSW 8 111,914,425 (GRCm39) missense probably benign 0.08
R9553:Glg1 UTSW 8 111,926,770 (GRCm39) missense probably benign 0.04
R9622:Glg1 UTSW 8 111,899,133 (GRCm39) missense probably damaging 1.00
R9714:Glg1 UTSW 8 111,924,301 (GRCm39) missense probably damaging 1.00
X0027:Glg1 UTSW 8 111,896,232 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTACCAGGACATTGTTCTCCTGAG -3'
(R):5'- CGTAAAGCAGCCACGTTCTTTCTTC -3'

Sequencing Primer
(F):5'- cccaaataaatctatccttccttcc -3'
(R):5'- CGTTCTTTCTTCTTTTTTTGGAACAG -3'
Posted On 2014-05-23