Incidental Mutation 'IGL02276:Large1'
ID 287337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Large1
Ensembl Gene ENSMUSG00000004383
Gene Name LARGE xylosyl- and glucuronyltransferase 1
Synonyms froggy, enr, BPFD#36, fg
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # IGL02276
Quality Score
Status
Chromosome 8
Chromosomal Location 73541227-74080164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73544721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 686 (M686L)
Ref Sequence ENSEMBL: ENSMUSP00000148336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004497] [ENSMUST00000119826] [ENSMUST00000212459]
AlphaFold Q9Z1M7
Predicted Effect probably benign
Transcript: ENSMUST00000004497
AA Change: M686L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: M686L

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
coiled coil region 55 90 N/A INTRINSIC
Pfam:Glyco_transf_8 141 387 6.2e-22 PFAM
Pfam:Glyco_transf_49 473 540 5.2e-15 PFAM
Pfam:Glyco_transf_49 535 743 1.1e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119826
AA Change: M686L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: M686L

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
coiled coil region 55 90 N/A INTRINSIC
Pfam:Glyco_transf_8 142 386 3e-23 PFAM
Pfam:Glyco_transf_49 473 540 2.3e-11 PFAM
Pfam:Glyco_transf_49 520 743 2.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212459
AA Change: M686L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,386,697 (GRCm39) V1140A probably damaging Het
Ccdc88b A G 19: 6,833,475 (GRCm39) probably null Het
Cep135 A G 5: 76,782,093 (GRCm39) N904S probably benign Het
Dnajc12 G A 10: 63,244,037 (GRCm39) R109Q probably damaging Het
Dpp4 A G 2: 62,187,295 (GRCm39) probably benign Het
Duox2 A T 2: 122,124,566 (GRCm39) N380K probably benign Het
Dusp11 A T 6: 85,935,599 (GRCm39) D91E probably damaging Het
Fkbp15 C A 4: 62,254,703 (GRCm39) E266* probably null Het
Gm10337 A G 15: 102,412,169 (GRCm39) V324A probably damaging Het
Grik3 A T 4: 125,517,295 (GRCm39) D46V possibly damaging Het
Hdac9 G A 12: 34,481,925 (GRCm39) T181I probably damaging Het
Iigp1c A T 18: 60,379,151 (GRCm39) I229F probably damaging Het
Lca5 C A 9: 83,280,638 (GRCm39) L387F possibly damaging Het
Mtmr9 A T 14: 63,767,725 (GRCm39) W295R probably damaging Het
Or2h15 A G 17: 38,441,484 (GRCm39) S200P probably damaging Het
Or5ac15 A C 16: 58,940,378 (GRCm39) D18E probably benign Het
Phf20l1 T A 15: 66,487,259 (GRCm39) probably null Het
Plce1 A G 19: 38,513,201 (GRCm39) S167G probably benign Het
Plekha6 C A 1: 133,221,599 (GRCm39) D934E possibly damaging Het
Pramel17 T C 4: 101,695,306 (GRCm39) S2G possibly damaging Het
Ptpn6 A C 6: 124,705,828 (GRCm39) D105E probably null Het
Rtp1 T C 16: 23,250,063 (GRCm39) S143P probably benign Het
Rttn A C 18: 89,066,578 (GRCm39) Q1208P possibly damaging Het
Snx27 A T 3: 94,438,686 (GRCm39) V183D probably damaging Het
Stim2 T C 5: 54,210,712 (GRCm39) probably benign Het
Trak1 A T 9: 121,280,734 (GRCm39) E271D probably damaging Het
Ttn A T 2: 76,774,226 (GRCm39) probably benign Het
Vmn2r4 G A 3: 64,313,877 (GRCm39) T279I possibly damaging Het
Vmn2r73 A T 7: 85,518,980 (GRCm39) probably null Het
Zfp819 G A 7: 43,261,428 (GRCm39) V32I possibly damaging Het
Other mutations in Large1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Large1 APN 8 73,564,125 (GRCm39) missense probably damaging 1.00
IGL00326:Large1 APN 8 73,858,611 (GRCm39) missense probably benign
IGL00418:Large1 APN 8 73,550,469 (GRCm39) critical splice acceptor site probably null
IGL01155:Large1 APN 8 73,858,617 (GRCm39) missense probably benign 0.01
IGL01793:Large1 APN 8 73,585,809 (GRCm39) splice site probably benign
IGL01929:Large1 APN 8 73,585,903 (GRCm39) missense probably damaging 1.00
IGL02218:Large1 APN 8 73,638,750 (GRCm39) missense probably damaging 1.00
IGL02329:Large1 APN 8 73,774,945 (GRCm39) missense possibly damaging 0.80
IGL02543:Large1 APN 8 73,775,042 (GRCm39) missense probably benign 0.00
IGL02887:Large1 APN 8 73,858,667 (GRCm39) missense probably benign 0.07
biggs UTSW 8 73,843,047 (GRCm39) missense probably damaging 1.00
umber UTSW 8 73,609,892 (GRCm39) nonsense probably null
R0179:Large1 UTSW 8 73,825,474 (GRCm39) missense probably benign 0.09
R0477:Large1 UTSW 8 73,544,710 (GRCm39) missense probably damaging 1.00
R0587:Large1 UTSW 8 73,585,961 (GRCm39) missense probably damaging 1.00
R0791:Large1 UTSW 8 73,775,107 (GRCm39) splice site probably benign
R1253:Large1 UTSW 8 73,775,050 (GRCm39) missense probably damaging 0.98
R1695:Large1 UTSW 8 73,544,710 (GRCm39) missense probably damaging 1.00
R2017:Large1 UTSW 8 73,578,825 (GRCm39) missense probably damaging 1.00
R4835:Large1 UTSW 8 73,774,975 (GRCm39) missense probably damaging 1.00
R5105:Large1 UTSW 8 73,578,872 (GRCm39) nonsense probably null
R5120:Large1 UTSW 8 73,585,969 (GRCm39) missense probably damaging 1.00
R5135:Large1 UTSW 8 73,544,724 (GRCm39) missense probably benign 0.38
R5137:Large1 UTSW 8 73,774,937 (GRCm39) missense possibly damaging 0.58
R5567:Large1 UTSW 8 73,564,081 (GRCm39) missense possibly damaging 0.93
R5945:Large1 UTSW 8 73,578,828 (GRCm39) missense probably damaging 0.99
R6619:Large1 UTSW 8 73,609,892 (GRCm39) nonsense probably null
R6951:Large1 UTSW 8 73,843,047 (GRCm39) missense probably damaging 1.00
R7041:Large1 UTSW 8 73,843,092 (GRCm39) missense probably damaging 0.98
R7300:Large1 UTSW 8 73,564,224 (GRCm39) missense probably damaging 1.00
R7493:Large1 UTSW 8 73,550,343 (GRCm39) missense probably benign 0.23
R7877:Large1 UTSW 8 73,843,071 (GRCm39) missense probably damaging 1.00
R8118:Large1 UTSW 8 73,858,572 (GRCm39) missense probably benign 0.40
R8129:Large1 UTSW 8 73,542,585 (GRCm39) missense probably damaging 1.00
R8525:Large1 UTSW 8 73,564,120 (GRCm39) missense probably damaging 1.00
R8963:Large1 UTSW 8 73,542,612 (GRCm39) missense probably damaging 1.00
R9170:Large1 UTSW 8 73,542,645 (GRCm39) missense probably benign 0.00
R9653:Large1 UTSW 8 73,564,106 (GRCm39) missense probably benign
Z1088:Large1 UTSW 8 73,638,731 (GRCm39) nonsense probably null
Posted On 2015-04-16