Incidental Mutation 'IGL00418:Large1'
ID 5017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Large1
Ensembl Gene ENSMUSG00000004383
Gene Name LARGE xylosyl- and glucuronyltransferase 1
Synonyms froggy, BPFD#36, fg, enr
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.588) question?
Stock # IGL00418
Quality Score
Status
Chromosome 8
Chromosomal Location 72814599-73353540 bp(-) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 72823841 bp (GRCm38)
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 null
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 null
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 null
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,048,963 I238T probably damaging Het
Akap4 T C X: 7,076,490 V344A possibly damaging Het
Apex2 T C X: 150,572,052 K430E probably benign Het
Aqp9 C T 9: 71,132,731 A90T probably damaging Het
Asb15 T A 6: 24,558,643 probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Bspry G T 4: 62,496,105 D312Y probably benign Het
Cdh16 G A 8: 104,623,413 R5W probably benign Het
Ciz1 C T 2: 32,372,388 R461C probably damaging Het
Cldn14 T A 16: 93,919,301 D219V probably benign Het
Clpb A T 7: 101,787,745 T706S probably benign Het
Cyp2d11 A T 15: 82,392,468 M90K probably benign Het
Cyp2j8 T A 4: 96,444,616 I498F possibly damaging Het
Dnah2 A G 11: 69,495,066 probably benign Het
Dpyd T A 3: 118,944,242 F477L probably damaging Het
Dscaml1 C A 9: 45,670,200 S439* probably null Het
Faxc A G 4: 21,958,490 K216E possibly damaging Het
Fmo1 C T 1: 162,836,246 R238Q probably damaging Het
Gm14399 G A 2: 175,131,522 R147* probably null Het
H2-Ab1 G A 17: 34,267,575 V203M probably damaging Het
Heatr5b T C 17: 78,753,141 E2035G probably damaging Het
Hip1 A G 5: 135,426,346 I786T probably damaging Het
Homer1 T C 13: 93,387,688 probably benign Het
Igkv9-120 A G 6: 68,049,987 D2G possibly damaging Het
Irgm1 A T 11: 48,866,005 Y326* probably null Het
Kctd19 A T 8: 105,388,463 probably null Het
Mzf1 G A 7: 13,044,616 A287V possibly damaging Het
Nes A T 3: 87,976,254 K607* probably null Het
Pars2 T A 4: 106,654,050 V307E probably damaging Het
Pcsk5 T A 19: 17,511,421 I1012F possibly damaging Het
Pole T C 5: 110,303,565 probably benign Het
Rbm14 T C 19: 4,802,548 probably benign Het
Scn2a A T 2: 65,764,522 Q1905L probably benign Het
Slc26a2 A G 18: 61,198,740 F540L probably benign Het
Slco2a1 T C 9: 103,079,441 probably benign Het
Tas2r106 T C 6: 131,677,959 probably null Het
Tmem175 T A 5: 108,645,866 D287E probably benign Het
Trappc12 T C 12: 28,737,836 K416R probably damaging Het
Trim2 A G 3: 84,208,289 L86P probably damaging Het
Vps13c T A 9: 67,876,262 N240K probably damaging Het
Wdr90 A C 17: 25,849,364 I1330S probably damaging Het
Wfdc6a A G 2: 164,584,994 probably null Het
Zc3h12c C T 9: 52,116,665 V466M probably damaging Het
Zswim8 A G 14: 20,718,475 T1025A probably damaging Het
Other mutations in Large1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Large1 APN 8 72837497 missense probably damaging 1.00
IGL00326:Large1 APN 8 73131983 missense probably benign
IGL01155:Large1 APN 8 73131989 missense probably benign 0.01
IGL01793:Large1 APN 8 72859181 splice site probably benign
IGL01929:Large1 APN 8 72859275 missense probably damaging 1.00
IGL02218:Large1 APN 8 72912122 missense probably damaging 1.00
IGL02276:Large1 APN 8 72818093 missense probably benign 0.00
IGL02329:Large1 APN 8 73048317 missense possibly damaging 0.80
IGL02543:Large1 APN 8 73048414 missense probably benign 0.00
IGL02887:Large1 APN 8 73132039 missense probably benign 0.07
biggs UTSW 8 73116419 missense probably damaging 1.00
umber UTSW 8 72883264 nonsense probably null
R0179:Large1 UTSW 8 73098846 missense probably benign 0.09
R0477:Large1 UTSW 8 72818082 missense probably damaging 1.00
R0587:Large1 UTSW 8 72859333 missense probably damaging 1.00
R0791:Large1 UTSW 8 73048479 splice site probably benign
R1253:Large1 UTSW 8 73048422 missense probably damaging 0.98
R1695:Large1 UTSW 8 72818082 missense probably damaging 1.00
R2017:Large1 UTSW 8 72852197 missense probably damaging 1.00
R4835:Large1 UTSW 8 73048347 missense probably damaging 1.00
R5105:Large1 UTSW 8 72852244 nonsense probably null
R5120:Large1 UTSW 8 72859341 missense probably damaging 1.00
R5135:Large1 UTSW 8 72818096 missense probably benign 0.38
R5137:Large1 UTSW 8 73048309 missense possibly damaging 0.58
R5567:Large1 UTSW 8 72837453 missense possibly damaging 0.93
R5945:Large1 UTSW 8 72852200 missense probably damaging 0.99
R6619:Large1 UTSW 8 72883264 nonsense probably null
R6951:Large1 UTSW 8 73116419 missense probably damaging 1.00
R7041:Large1 UTSW 8 73116464 missense probably damaging 0.98
R7300:Large1 UTSW 8 72837596 missense probably damaging 1.00
R7493:Large1 UTSW 8 72823715 missense probably benign 0.23
R7877:Large1 UTSW 8 73116443 missense probably damaging 1.00
R8118:Large1 UTSW 8 73131944 missense probably benign 0.40
R8129:Large1 UTSW 8 72815957 missense probably damaging 1.00
R8525:Large1 UTSW 8 72837492 missense probably damaging 1.00
R8963:Large1 UTSW 8 72815984 missense probably damaging 1.00
R9170:Large1 UTSW 8 72816017 missense probably benign 0.00
Z1088:Large1 UTSW 8 72912103 nonsense probably null
Posted On 2012-04-20