Incidental Mutation 'IGL03124:Glg1'
ID 410083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glg1
Ensembl Gene ENSMUSG00000003316
Gene Name golgi apparatus protein 1
Synonyms MG160, CFR-1, MG-160, Selel, ESL-1, CFR
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # IGL03124
Quality Score
Status
Chromosome 8
Chromosomal Location 111881053-111985848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111926803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 171 (V171M)
Ref Sequence ENSEMBL: ENSMUSP00000131659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003404] [ENSMUST00000164283] [ENSMUST00000169020]
AlphaFold Q61543
Predicted Effect probably damaging
Transcript: ENSMUST00000003404
AA Change: V160M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: V160M

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 damaging
Transcript: ENSMUST00000164283
AA Change: V171M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: V171M

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: V171M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: V171M

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 122,268,449 (GRCm39) probably benign Het
4931414P19Rik A G 14: 54,832,596 (GRCm39) V193A probably benign Het
Acap3 T C 4: 155,989,490 (GRCm39) S645P probably benign Het
Alms1 A G 6: 85,655,401 (GRCm39) I3316V probably benign Het
Apc T G 18: 34,433,038 (GRCm39) H424Q probably damaging Het
Camsap2 A T 1: 136,202,537 (GRCm39) probably null Het
Car13 C T 3: 14,722,000 (GRCm39) P182L possibly damaging Het
Ccdc87 T G 19: 4,891,082 (GRCm39) S525A probably damaging Het
Ces1f T C 8: 94,002,012 (GRCm39) N39D probably benign Het
Cyp2j13 C A 4: 95,950,159 (GRCm39) A281S possibly damaging Het
Cyp4f15 G A 17: 32,904,786 (GRCm39) probably null Het
Fat4 C A 3: 39,035,701 (GRCm39) R3118S possibly damaging Het
Hivep1 G T 13: 42,312,380 (GRCm39) G1540V possibly damaging Het
Ighm T C 12: 113,385,258 (GRCm39) D234G unknown Het
Igsf10 T C 3: 59,227,086 (GRCm39) T2196A probably benign Het
Kctd19 T A 8: 106,113,702 (GRCm39) Q657L possibly damaging Het
Klhl40 T A 9: 121,609,751 (GRCm39) I512N probably damaging Het
Lima1 A T 15: 99,694,615 (GRCm39) probably benign Het
Map2k4 A C 11: 65,581,617 (GRCm39) I365S probably damaging Het
Mast4 T A 13: 102,874,753 (GRCm39) K1346N probably damaging Het
Met T A 6: 17,492,077 (GRCm39) F280I probably benign Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Nup214 T C 2: 31,886,452 (GRCm39) F605L probably benign Het
Odr4 A G 1: 150,262,176 (GRCm39) V88A probably benign Het
Or51k1 G T 7: 103,661,001 (GRCm39) Q303K probably benign Het
Or5ae2 T A 7: 84,505,931 (GRCm39) M118K probably damaging Het
Or7e177 T A 9: 20,212,459 (GRCm39) M322K probably benign Het
Pck2 C T 14: 55,782,790 (GRCm39) T373I probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pecr A C 1: 72,316,499 (GRCm39) S69A probably benign Het
Pgap6 G A 17: 26,335,808 (GRCm39) R65Q probably damaging Het
Pitpnb A G 5: 111,478,696 (GRCm39) E6G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plbd2 A T 5: 120,631,142 (GRCm39) F212I possibly damaging Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scp2 T A 4: 107,921,103 (GRCm39) I36F probably damaging Het
Slc9a4 A G 1: 40,619,895 (GRCm39) T74A probably damaging Het
Spmip6 T C 4: 41,507,287 (GRCm39) N170D possibly damaging Het
St6galnac1 G A 11: 116,666,125 (GRCm39) A35V probably benign Het
Tasor2 A T 13: 3,624,704 (GRCm39) Y1749N probably benign Het
Trav17 T C 14: 54,044,106 (GRCm39) V4A probably benign Het
Vmn1r57 A T 7: 5,224,021 (GRCm39) H182L possibly damaging Het
Vwa8 A T 14: 79,296,255 (GRCm39) probably benign Het
Zgpat A G 2: 181,007,973 (GRCm39) Y170C probably benign 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
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
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
Posted On 2016-08-02