Incidental Mutation 'R9622:Glg1'
ID 724879
Institutional Source Beutler Lab
Gene Symbol Glg1
Ensembl Gene ENSMUSG00000003316
Gene Name golgi apparatus protein 1
Synonyms Selel, CFR, MG-160, CFR-1, ESL-1, MG160
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # R9622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 111154421-111259216 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111172501 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 711 (G711R)
Ref Sequence ENSEMBL: ENSMUSP00000131355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003404] [ENSMUST00000164283] [ENSMUST00000168741] [ENSMUST00000169020]
AlphaFold Q61543
Predicted Effect probably damaging
Transcript: ENSMUST00000003404
AA Change: G700R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: G700R

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 damaging
Transcript: ENSMUST00000168741
AA Change: G104R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316
AA Change: G104R

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: G711R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: G711R

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: 99.7%
  • 20x: 99.2%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 35,849,545 (GRCm38) K435E probably damaging Het
Acly T C 11: 100,504,959 (GRCm38) T412A probably damaging Het
Aldh3b2 T A 19: 3,979,489 (GRCm38) D287E probably benign Het
Asphd1 G A 7: 126,948,802 (GRCm38) P110S Het
Atg7 T C 6: 114,678,032 (GRCm38) L142P probably benign Het
Atp13a4 T C 16: 29,420,459 (GRCm38) I796V Het
Bbx A G 16: 50,274,659 (GRCm38) V98A probably damaging Het
Brca2 T C 5: 150,556,945 (GRCm38) S2727P probably damaging Het
Camk1 T A 6: 113,341,889 (GRCm38) D21V possibly damaging Het
Cdc5l A T 17: 45,404,783 (GRCm38) D634E probably benign Het
Cfap418 T C 4: 10,893,304 (GRCm38) I141T possibly damaging Het
Cyfip1 A T 7: 55,879,105 (GRCm38) D275V possibly damaging Het
Cyp4a30b A G 4: 115,470,965 (GRCm38) E477G probably damaging Het
Cyp4f16 C T 17: 32,550,272 (GRCm38) P379S probably damaging Het
Dchs2 C T 3: 83,356,459 (GRCm38) Q3345* probably null Het
Dnaaf1 A G 8: 119,588,262 (GRCm38) T270A possibly damaging Het
Dnah3 A G 7: 119,962,133 (GRCm38) V334A Het
Dnhd1 T C 7: 105,704,135 (GRCm38) F2832L probably benign Het
Dock8 A G 19: 25,121,181 (GRCm38) N623S probably null Het
Eif4enif1 T C 11: 3,215,714 (GRCm38) I97T probably benign Het
Elmo1 C G 13: 20,208,140 (GRCm38) P29A probably benign Het
Erich6 G C 3: 58,636,741 (GRCm38) P142A possibly damaging Het
Fam135b T C 15: 71,525,837 (GRCm38) R125G probably damaging Het
Fcrla T A 1: 170,922,239 (GRCm38) H83L probably damaging Het
Flt3 C T 5: 147,367,031 (GRCm38) E366K possibly damaging Het
Gabbr2 C T 4: 46,724,283 (GRCm38) probably null Het
Gigyf1 T A 5: 137,524,664 (GRCm38) L809* probably null Het
Gp1bb T C 16: 18,620,777 (GRCm38) E189G probably benign Het
H2-Q1 A T 17: 35,323,556 (GRCm38) I326F probably benign Het
Hoxb3 A T 11: 96,344,594 (GRCm38) K116* probably null Het
Kcnb1 T C 2: 167,188,241 (GRCm38) Y128C probably damaging Het
Kif5b G A 18: 6,225,672 (GRCm38) R171C probably damaging Het
Lcn4 G A 2: 26,671,216 (GRCm38) Q18* probably null Het
Lrp1b G A 2: 40,889,342 (GRCm38) Q2677* probably null Het
Map4k3 T A 17: 80,651,109 (GRCm38) T145S probably damaging Het
Mas1 T C 17: 12,842,011 (GRCm38) E175G probably benign Het
Metap2 T C 10: 93,871,504 (GRCm38) T202A probably benign Het
Mras A T 9: 99,393,001 (GRCm38) M131K probably benign Het
Mtor T C 4: 148,483,712 (GRCm38) V1092A probably damaging Het
Mug2 T C 6: 122,051,792 (GRCm38) S582P probably benign Het
Myo5b A G 18: 74,714,946 (GRCm38) N1085S probably damaging Het
Nav3 T C 10: 109,767,242 (GRCm38) T1149A probably benign Het
Nipbl A T 15: 8,336,889 (GRCm38) S1239T probably benign Het
Nkpd1 C A 7: 19,523,942 (GRCm38) R549S probably benign Het
Or10a3m T A 7: 108,713,470 (GRCm38) M39K probably benign Het
Or10p1 G A 10: 129,608,215 (GRCm38) H89Y probably benign Het
Or1j1 A G 2: 36,812,609 (GRCm38) L161P probably damaging Het
Or51i2 T A 7: 104,040,315 (GRCm38) V173D probably damaging Het
Pcdh18 T C 3: 49,756,780 (GRCm38) N29D probably benign Het
Pdzrn4 T C 15: 92,397,068 (GRCm38) W52R probably benign Het
Plekhb1 T C 7: 100,655,381 (GRCm38) K39E probably damaging Het
Pramel28 A G 4: 143,965,778 (GRCm38) S218P probably benign Het
Psmb4 C A 3: 94,884,974 (GRCm38) E212D probably benign Het
Rcc1l A G 5: 134,176,509 (GRCm38) L69P probably damaging Het
Robo2 T C 16: 73,933,064 (GRCm38) R1082G probably benign Het
Rorb T C 19: 18,977,751 (GRCm38) Y167C probably damaging Het
Sanbr T A 11: 23,584,590 (GRCm38) K589I probably damaging Het
Sbsn GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG GG 7: 30,752,642 (GRCm38) probably benign Het
Scaf8 T A 17: 3,197,895 (GRCm38) F1164L probably benign Het
Scn10a A T 9: 119,608,980 (GRCm38) M1940K probably benign Het
Serpinb2 A G 1: 107,524,568 (GRCm38) N292S probably benign Het
Sparcl1 C A 5: 104,087,132 (GRCm38) V506L possibly damaging Het
Stt3a A G 9: 36,749,729 (GRCm38) V262A possibly damaging Het
Syt17 C A 7: 118,436,968 (GRCm38) M58I probably benign Het
Tas2r134 A C 2: 51,628,346 (GRCm38) N279T possibly damaging Het
Tbc1d2 T C 4: 46,609,065 (GRCm38) E724G probably damaging Het
Teddm1b T A 1: 153,874,874 (GRCm38) L143Q Het
Tlk1 T A 2: 70,786,937 (GRCm38) R66S probably damaging Het
Tmem139 A T 6: 42,263,242 (GRCm38) probably null Het
Tom1l2 T C 11: 60,261,116 (GRCm38) Y155C possibly damaging Het
Trmt1l C A 1: 151,428,959 (GRCm38) S28* probably null Het
Ttf2 T C 3: 100,952,602 (GRCm38) I679V probably benign Het
Unc13b T G 4: 43,172,513 (GRCm38) F1114V Het
Vmn2r25 T A 6: 123,839,620 (GRCm38) D334V probably damaging Het
Vps13c T G 9: 67,949,433 (GRCm38) Y2581D probably damaging Het
Xkr5 A G 8: 18,934,231 (GRCm38) S432P probably benign Het
Zc2hc1b G A 10: 13,167,933 (GRCm38) P73S possibly damaging Het
Zfhx2 A C 14: 55,066,026 (GRCm38) F1500L probably benign Het
Zfp3 T G 11: 70,771,913 (GRCm38) S233A possibly damaging Het
Zmat5 T C 11: 4,737,453 (GRCm38) W169R probably damaging Het
Other mutations in Glg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Glg1 APN 8 111,159,849 (GRCm38) missense probably damaging 1.00
IGL01326:Glg1 APN 8 111,182,573 (GRCm38) missense probably damaging 0.96
IGL01558:Glg1 APN 8 111,187,730 (GRCm38) missense probably benign 0.00
IGL01798:Glg1 APN 8 111,192,700 (GRCm38) missense possibly damaging 0.58
IGL02651:Glg1 APN 8 111,160,727 (GRCm38) missense possibly damaging 0.76
IGL03124:Glg1 APN 8 111,200,171 (GRCm38) missense probably damaging 1.00
IGL03374:Glg1 APN 8 111,162,780 (GRCm38) missense probably damaging 1.00
IGL03404:Glg1 APN 8 111,159,902 (GRCm38) missense probably damaging 1.00
diabolical UTSW 8 111,168,743 (GRCm38) missense probably damaging 1.00
BB007:Glg1 UTSW 8 111,160,735 (GRCm38) missense possibly damaging 0.46
BB017:Glg1 UTSW 8 111,160,735 (GRCm38) missense possibly damaging 0.46
PIT4362001:Glg1 UTSW 8 111,258,799 (GRCm38) missense possibly damaging 0.80
R0047:Glg1 UTSW 8 111,165,582 (GRCm38) missense probably damaging 1.00
R0047:Glg1 UTSW 8 111,165,582 (GRCm38) missense probably damaging 1.00
R0255:Glg1 UTSW 8 111,159,858 (GRCm38) missense possibly damaging 0.82
R0432:Glg1 UTSW 8 111,182,569 (GRCm38) missense probably damaging 1.00
R0458:Glg1 UTSW 8 111,160,606 (GRCm38) splice site probably benign
R0635:Glg1 UTSW 8 111,163,764 (GRCm38) splice site probably benign
R0765:Glg1 UTSW 8 111,159,797 (GRCm38) critical splice donor site probably null
R1104:Glg1 UTSW 8 111,197,603 (GRCm38) missense probably benign 0.01
R1495:Glg1 UTSW 8 111,197,675 (GRCm38) missense probably damaging 1.00
R1747:Glg1 UTSW 8 111,197,673 (GRCm38) missense probably damaging 1.00
R1899:Glg1 UTSW 8 111,165,674 (GRCm38) missense probably benign 0.23
R1950:Glg1 UTSW 8 111,165,639 (GRCm38) missense possibly damaging 0.79
R2074:Glg1 UTSW 8 111,168,671 (GRCm38) missense probably damaging 1.00
R2112:Glg1 UTSW 8 111,192,546 (GRCm38) missense probably damaging 1.00
R2275:Glg1 UTSW 8 111,168,721 (GRCm38) nonsense probably null
R2342:Glg1 UTSW 8 111,187,807 (GRCm38) nonsense probably null
R4633:Glg1 UTSW 8 111,177,644 (GRCm38) critical splice donor site probably null
R4716:Glg1 UTSW 8 111,160,775 (GRCm38) nonsense probably null
R4732:Glg1 UTSW 8 111,187,755 (GRCm38) missense probably damaging 1.00
R4733:Glg1 UTSW 8 111,187,755 (GRCm38) missense probably damaging 1.00
R5594:Glg1 UTSW 8 111,187,881 (GRCm38) missense probably damaging 1.00
R5722:Glg1 UTSW 8 111,169,562 (GRCm38) missense possibly damaging 0.67
R5951:Glg1 UTSW 8 111,165,691 (GRCm38) missense possibly damaging 0.64
R5958:Glg1 UTSW 8 111,259,104 (GRCm38) missense probably benign 0.01
R6090:Glg1 UTSW 8 111,181,035 (GRCm38) missense probably damaging 1.00
R6476:Glg1 UTSW 8 111,200,174 (GRCm38) missense possibly damaging 0.94
R6480:Glg1 UTSW 8 111,197,706 (GRCm38) missense possibly damaging 0.89
R6819:Glg1 UTSW 8 111,187,881 (GRCm38) missense probably damaging 1.00
R7116:Glg1 UTSW 8 111,178,957 (GRCm38) missense probably benign 0.22
R7293:Glg1 UTSW 8 111,168,743 (GRCm38) missense probably damaging 1.00
R7431:Glg1 UTSW 8 111,160,754 (GRCm38) missense unknown
R7479:Glg1 UTSW 8 111,197,735 (GRCm38) missense possibly damaging 0.91
R7509:Glg1 UTSW 8 111,259,043 (GRCm38) missense probably benign 0.04
R7547:Glg1 UTSW 8 111,187,761 (GRCm38) missense possibly damaging 0.89
R7678:Glg1 UTSW 8 111,178,865 (GRCm38) missense probably benign 0.19
R7930:Glg1 UTSW 8 111,160,735 (GRCm38) missense possibly damaging 0.46
R8182:Glg1 UTSW 8 111,171,297 (GRCm38) missense possibly damaging 0.88
R8383:Glg1 UTSW 8 111,169,562 (GRCm38) missense possibly damaging 0.67
R8787:Glg1 UTSW 8 111,161,482 (GRCm38) missense probably damaging 0.99
R8905:Glg1 UTSW 8 111,158,036 (GRCm38) missense probably damaging 0.99
R8954:Glg1 UTSW 8 111,187,895 (GRCm38) missense probably damaging 1.00
R8958:Glg1 UTSW 8 111,172,484 (GRCm38) nonsense probably null
R9023:Glg1 UTSW 8 111,177,748 (GRCm38) missense probably damaging 0.99
R9113:Glg1 UTSW 8 111,160,820 (GRCm38) intron probably benign
R9359:Glg1 UTSW 8 111,187,793 (GRCm38) missense probably benign 0.08
R9403:Glg1 UTSW 8 111,187,793 (GRCm38) missense probably benign 0.08
R9553:Glg1 UTSW 8 111,200,138 (GRCm38) missense probably benign 0.04
R9714:Glg1 UTSW 8 111,197,669 (GRCm38) missense probably damaging 1.00
X0027:Glg1 UTSW 8 111,169,600 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAAGCTGTTGAGAAAAGCCCAG -3'
(R):5'- TGCTGAATTGCTATCGTTCCTG -3'

Sequencing Primer
(F):5'- AGCCCAGTTTATTGAGAAGCTG -3'
(R):5'- GCTGAATTGCTATCGTTCCTGATTTC -3'
Posted On 2022-09-12