Incidental Mutation 'R6090:Glg1'
ID 486146
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 044247-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # R6090 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 111881053-111985848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111907667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 510 (I510F)
Ref Sequence ENSEMBL: ENSMUSP00000003404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003404] [ENSMUST00000164283] [ENSMUST00000168741] [ENSMUST00000169020]
AlphaFold Q61543
Predicted Effect probably damaging
Transcript: ENSMUST00000003404
AA Change: I510F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: I510F

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 probably benign
Transcript: ENSMUST00000164283
SMART Domains Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316

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 benign
Transcript: ENSMUST00000168741
SMART Domains Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316

DomainStartEndE-ValueType
Pfam:Cys_rich_FGFR 1 57 2.6e-17 PFAM
Pfam:Cys_rich_FGFR 58 118 8.5e-15 PFAM
Pfam:Cys_rich_FGFR 121 177 2e-14 PFAM
Pfam:Cys_rich_FGFR 188 245 4.3e-19 PFAM
Pfam:Cys_rich_FGFR 246 301 1.8e-17 PFAM
Pfam:Cys_rich_FGFR 304 368 8.9e-22 PFAM
Pfam:Cys_rich_FGFR 371 431 1.5e-16 PFAM
Pfam:Cys_rich_FGFR 459 513 1.6e-15 PFAM
transmembrane domain 558 580 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169020
AA Change: I521F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: I521F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,624,972 (GRCm39) A450V probably benign Het
Abca8a T C 11: 109,954,048 (GRCm39) probably null Het
Adgrl3 A T 5: 81,660,173 (GRCm39) N246I probably damaging Het
Bmal2 T A 6: 146,731,194 (GRCm39) S500T possibly damaging Het
Cdipt A T 7: 126,576,131 (GRCm39) M29L possibly damaging Het
Chml G T 1: 175,514,624 (GRCm39) Y432* probably null Het
Clasp2 G T 9: 113,681,803 (GRCm39) V320L probably benign Het
Col12a1 G A 9: 79,599,675 (GRCm39) T826M probably damaging Het
Cpsf3 A G 12: 21,345,194 (GRCm39) I169V probably damaging Het
Dhx36 G A 3: 62,404,241 (GRCm39) T234M probably damaging Het
Dhx57 A G 17: 80,571,375 (GRCm39) probably null Het
Dnah1 A T 14: 30,991,382 (GRCm39) I3132N possibly damaging Het
Fbxw20 G T 9: 109,052,431 (GRCm39) Q231K probably benign Het
Gfod1 G T 13: 43,354,437 (GRCm39) Y179* probably null Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gse1 C A 8: 121,297,908 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Klrd1 T C 6: 129,572,499 (GRCm39) L97P probably damaging Het
Lgmn A T 12: 102,366,413 (GRCm39) M240K probably damaging Het
Lrp1b A G 2: 41,075,880 (GRCm39) probably null Het
Notch2 A T 3: 98,042,693 (GRCm39) R1353* probably null Het
Or2d2b A G 7: 106,705,456 (GRCm39) V204A possibly damaging Het
Or5t18 A C 2: 86,636,701 (GRCm39) V214G possibly damaging Het
Pcdhb14 G A 18: 37,581,659 (GRCm39) S255N probably benign Het
Pcgf2 C T 11: 97,581,817 (GRCm39) M25I possibly damaging Het
Poll G T 19: 45,544,436 (GRCm39) D328E probably benign Het
Pomgnt2 A T 9: 121,811,863 (GRCm39) L306Q probably damaging Het
Proser1 A T 3: 53,386,088 (GRCm39) M657L probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Rdh11 G T 12: 79,235,838 (GRCm39) P37T probably benign Het
Rsph10b A T 5: 143,913,946 (GRCm39) I286L probably benign Het
Septin4 G A 11: 87,480,343 (GRCm39) R238K possibly damaging Het
Sptan1 C T 2: 29,883,899 (GRCm39) R580C probably damaging Het
Stard9 T A 2: 120,524,135 (GRCm39) W777R probably damaging Het
Timd2 T C 11: 46,578,063 (GRCm39) T23A probably benign Het
Tmc4 A G 7: 3,674,052 (GRCm39) Y376H probably damaging Het
Tmem143 A G 7: 45,558,950 (GRCm39) I297M probably benign Het
Togaram1 A G 12: 65,014,575 (GRCm39) T609A probably benign Het
Tyw3 T C 3: 154,302,704 (GRCm39) H10R probably benign Het
Unc13b C A 4: 43,239,306 (GRCm39) H3456Q probably damaging Het
Zfp131 A T 13: 120,237,532 (GRCm39) H275Q 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
R1747:Glg1 UTSW 8 111,924,305 (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
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'- GCATGCATATGTACACACTGATAAAC -3'
(R):5'- TGCAGAGTTTGAAGTCCAAAATG -3'

Sequencing Primer
(F):5'- TACACACACCCATTCTTTTGATATTG -3'
(R):5'- GAAGTCCAAAATGGCTTTAAACTGG -3'
Posted On 2017-08-16