Incidental Mutation 'R7116:Glg1'
ID 551778
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 045207-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # R7116 (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 111905589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 564 (Q564L)
Ref Sequence ENSEMBL: ENSMUSP00000131355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003404] [ENSMUST00000164283] [ENSMUST00000168741] [ENSMUST00000169020]
AlphaFold Q61543
Predicted Effect probably benign
Transcript: ENSMUST00000003404
AA Change: Q553L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: Q553L

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 benign
Transcript: ENSMUST00000169020
AA Change: Q564L

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: Q564L

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,251,751 (GRCm39) S109P probably damaging Het
Afg3l1 T G 8: 124,216,601 (GRCm39) L280R probably damaging Het
Akap13 T A 7: 75,369,943 (GRCm39) S129T probably benign Het
Ankrd11 A G 8: 123,622,869 (GRCm39) S328P probably damaging Het
Aox3 A T 1: 58,192,689 (GRCm39) E554D probably benign Het
Bcl11a T C 11: 24,113,839 (GRCm39) V394A probably damaging Het
Cass4 A G 2: 172,269,889 (GRCm39) Y657C unknown Het
Ccdc88a C T 11: 29,454,051 (GRCm39) A1738V probably benign Het
Cfap74 T C 4: 155,539,518 (GRCm39) F948L unknown Het
Chgb A T 2: 132,623,237 (GRCm39) probably benign Het
Coro1c C T 5: 113,990,267 (GRCm39) W138* probably null Het
Dgkb A G 12: 38,031,989 (GRCm39) Q17R probably benign Het
Esco2 A G 14: 66,064,006 (GRCm39) Y393H probably damaging Het
Eya3 T A 4: 132,422,110 (GRCm39) D228E probably benign Het
Fat2 T C 11: 55,173,162 (GRCm39) D2517G probably damaging Het
Fry T A 5: 150,319,334 (GRCm39) probably null Het
Gal3st2b A T 1: 93,868,498 (GRCm39) Q243L possibly damaging Het
Gimap9 C T 6: 48,654,989 (GRCm39) A192V probably benign Het
H2-Aa A T 17: 34,502,601 (GRCm39) Y188* probably null Het
Hira T C 16: 18,730,864 (GRCm39) Y188H probably damaging Het
Ighv8-8 C T 12: 115,257,814 (GRCm39) D76N probably benign Het
Irf6 T C 1: 192,849,905 (GRCm39) F276L probably damaging Het
Itpr1 T C 6: 108,458,229 (GRCm39) C2000R probably damaging Het
Jakmip3 T C 7: 138,621,979 (GRCm39) V293A possibly damaging Het
Kcnh7 A G 2: 62,707,614 (GRCm39) V132A probably benign Het
Kcnj1 A G 9: 32,308,277 (GRCm39) T234A possibly damaging Het
Kpna3 T A 14: 61,605,635 (GRCm39) N470I probably benign Het
Lamb2 T C 9: 108,364,522 (GRCm39) F1121L probably damaging Het
Lingo1 T C 9: 56,527,911 (GRCm39) D232G probably benign Het
Lpxn T A 19: 12,788,622 (GRCm39) N70K probably benign Het
Ltbp4 T A 7: 27,004,852 (GRCm39) H1657L probably damaging Het
Luzp2 C A 7: 54,915,078 (GRCm39) F334L possibly damaging Het
Mgat5b A T 11: 116,835,785 (GRCm39) S142C possibly damaging Het
Mroh7 G A 4: 106,568,517 (GRCm39) T396I probably benign Het
Muc5b T C 7: 141,417,487 (GRCm39) S3478P probably benign Het
Nfatc2 A T 2: 168,349,269 (GRCm39) M626K probably benign Het
Nlrp14 A G 7: 106,782,255 (GRCm39) D484G possibly damaging Het
Npc1 T C 18: 12,344,601 (GRCm39) Y423C probably damaging Het
Nrsn1 A G 13: 25,437,388 (GRCm39) I180T probably damaging Het
Or11g25 A T 14: 50,723,025 (GRCm39) I37F probably benign Het
Or51a8 T A 7: 102,549,842 (GRCm39) N89K probably benign Het
Osbpl6 A T 2: 76,426,225 (GRCm39) I935F probably benign Het
Otog T C 7: 45,947,689 (GRCm39) F96L probably damaging Het
Pde1b T C 15: 103,436,745 (GRCm39) L534P possibly damaging Het
Pdzd8 C T 19: 59,288,125 (GRCm39) E1092K probably damaging Het
Pfkl T C 10: 77,837,249 (GRCm39) H108R probably benign Het
Pkhd1l1 G A 15: 44,421,372 (GRCm39) V3047I probably benign Het
Plag1 A T 4: 3,904,812 (GRCm39) C126* probably null Het
Pphln1 T A 15: 93,353,406 (GRCm39) S229T probably benign Het
Pramel5 C T 4: 144,000,451 (GRCm39) D42N possibly damaging Het
Psd3 A G 8: 68,166,390 (GRCm39) V915A probably benign Het
Ptdss1 T A 13: 67,093,391 (GRCm39) I77N probably benign Het
Rsbn1 T A 3: 103,821,892 (GRCm39) C3* probably null Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sv2c A T 13: 96,113,152 (GRCm39) V599E probably damaging Het
Vmn2r37 T C 7: 9,220,898 (GRCm39) T322A probably benign Het
Vmn2r60 T A 7: 41,786,487 (GRCm39) M430K probably benign Het
Wipf3 T A 6: 54,458,904 (GRCm39) probably null 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
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
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'- TGTGTTGACAGAAACCAGAACAAC -3'
(R):5'- ACTATGAGCAGCATTCAGAGTG -3'

Sequencing Primer
(F):5'- TTGACAGAAACCAGAACAACAGTAG -3'
(R):5'- GCCTGCTAATGCCTGTAAGATCAG -3'
Posted On 2019-05-15