Incidental Mutation 'IGL02543:Large1'
ID 298288
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 # IGL02543
Quality Score
Status
Chromosome 8
Chromosomal Location 72814599-73353540 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73048414 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 223 (M223L)
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: M223L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: M223L

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: M223L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: M223L

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 noncoding transcript
Transcript: ENSMUST00000146249
Predicted Effect probably benign
Transcript: ENSMUST00000212459
AA Change: M223L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,918,095 A193S probably damaging Het
Adcy4 T C 14: 55,769,170 T1069A probably benign Het
Arg2 A T 12: 79,150,759 I184F probably benign Het
Asb18 G A 1: 90,014,391 P63S probably damaging Het
Cd163l1 A G 7: 140,220,578 M91V probably benign Het
Cep85 T C 4: 134,156,323 H85R possibly damaging Het
Chfr A G 5: 110,143,547 probably null Het
Cog2 A G 8: 124,529,959 N148S probably benign Het
Csgalnact1 T C 8: 68,461,068 T162A probably damaging Het
Ddi1 C T 9: 6,266,183 G62D possibly damaging Het
Dhx33 T C 11: 70,987,240 Y435C probably damaging Het
Dsc3 A T 18: 19,965,828 C765S probably benign Het
Egfem1 T A 3: 29,668,380 D362E probably benign Het
Gm10093 A G 17: 78,491,874 E98G probably damaging Het
Gm28040 A T 1: 133,319,331 I26F possibly damaging Het
Gm28778 T C 1: 53,299,043 M22T probably benign Het
Hipk2 A G 6: 38,703,501 I968T possibly damaging Het
Hlx T G 1: 184,730,751 S235R probably damaging Het
Jag1 T C 2: 137,091,947 probably benign Het
Kdr A G 5: 75,964,947 probably benign Het
Klhl3 T C 13: 58,018,871 E435G probably damaging Het
L3mbtl4 T C 17: 68,461,612 probably benign Het
Lrp1b T C 2: 40,870,401 K2838E possibly damaging Het
Ncan T C 8: 70,108,571 D582G probably benign Het
Nedd9 T C 13: 41,316,735 D314G probably damaging Het
Nip7 T C 8: 107,058,193 probably benign Het
Olfr1408 T G 1: 173,130,334 K294N probably damaging Het
Olfr629 A T 7: 103,740,503 C246S possibly damaging Het
Olfr8 C A 10: 78,955,939 H245N probably damaging Het
P3h1 T C 4: 119,237,856 probably benign Het
Pcp4l1 C T 1: 171,175,564 probably benign Het
Plekhm2 C T 4: 141,642,019 G118D probably benign Het
Prkg1 T C 19: 30,624,734 D374G possibly damaging Het
Ptcd1 A G 5: 145,154,687 L534P possibly damaging Het
Rnf123 A G 9: 108,066,348 S563P probably damaging Het
Sdk2 A T 11: 113,868,921 I418N possibly damaging Het
Slc26a4 A G 12: 31,528,689 I655T possibly damaging Het
Syne1 T C 10: 5,043,618 K524R probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tbc1d22a C T 15: 86,239,171 A135V probably benign Het
Tenm3 A C 8: 48,298,956 W942G probably damaging Het
Thsd7b G A 1: 130,165,103 V1247I probably benign Het
Treml1 A G 17: 48,360,431 T115A possibly damaging Het
Ttn T C 2: 76,709,962 T34227A probably benign Het
Ugt2b38 T A 5: 87,423,483 D230V probably benign Het
Vmn1r203 G A 13: 22,524,904 G285D probably damaging Het
Vmn2r76 A G 7: 86,230,148 S315P probably benign Het
Vmn2r98 T G 17: 19,065,821 S194A probably benign Het
Wdr1 G A 5: 38,545,822 S137F probably damaging Het
Wnt7b C T 15: 85,558,896 probably benign Het
Zfp668 A T 7: 127,868,322 C27* probably null 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
IGL00418:Large1 APN 8 72823841 critical splice acceptor site probably null
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
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 2015-04-16