Incidental Mutation 'IGL01793:Large1'
ID 155286
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 # IGL01793
Quality Score
Status
Chromosome 8
Chromosomal Location 73541227-74080164 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 73585809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004497] [ENSMUST00000119826] [ENSMUST00000212459]
AlphaFold Q9Z1M7
Predicted Effect probably benign
Transcript: ENSMUST00000004497
SMART Domains Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383

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
SMART Domains Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,375,783 (GRCm39) I871V possibly damaging Het
Bbs7 A T 3: 36,659,831 (GRCm39) probably null Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Drc7 T C 8: 95,797,905 (GRCm39) I441T probably benign Het
Etl4 T C 2: 20,748,709 (GRCm39) I147T possibly damaging Het
Fat1 G A 8: 45,442,149 (GRCm39) M1150I probably benign Het
Fbn1 T C 2: 125,229,213 (GRCm39) S523G possibly damaging Het
Gramd1a C T 7: 30,833,838 (GRCm39) probably null Het
Hc A G 2: 34,918,202 (GRCm39) Y694H probably damaging Het
Kif6 T A 17: 49,931,521 (GRCm39) I73N probably damaging Het
Luzp2 G T 7: 54,821,997 (GRCm39) L171F probably damaging Het
Naaladl1 C A 19: 6,159,661 (GRCm39) probably null Het
Otop1 G A 5: 38,457,215 (GRCm39) A325T possibly damaging Het
Parp8 T A 13: 117,047,415 (GRCm39) Y219F probably damaging Het
Pkp3 A G 7: 140,668,817 (GRCm39) I660V probably benign Het
Plin3 T C 17: 56,588,540 (GRCm39) N238S probably benign Het
Ppef2 A T 5: 92,394,615 (GRCm39) D186E probably damaging Het
Rab40c G A 17: 26,103,596 (GRCm39) L156F probably damaging Het
Scnn1a T C 6: 125,320,666 (GRCm39) V547A probably benign Het
Spag6l A G 16: 16,599,721 (GRCm39) V247A probably damaging Het
Syne1 T C 10: 5,302,191 (GRCm39) E853G possibly damaging Het
Synj2 C T 17: 6,077,500 (GRCm39) R460* probably null Het
Synj2 T A 17: 6,088,321 (GRCm39) H1457Q probably benign Het
Syt1 T C 10: 108,419,836 (GRCm39) D275G possibly damaging Het
Tmx1 A G 12: 70,505,561 (GRCm39) D108G probably benign Het
Vmn1r180 T C 7: 23,652,668 (GRCm39) V277A probably benign Het
Vmn1r83 C T 7: 12,055,504 (GRCm39) M184I probably benign Het
Zfp750 G T 11: 121,404,810 (GRCm39) P22T probably damaging Het
Zscan2 A G 7: 80,524,692 (GRCm39) I138V probably null 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
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
IGL02276:Large1 APN 8 73,544,721 (GRCm39) missense probably benign 0.00
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 2014-02-04