Incidental Mutation 'IGL02887:Large1'
ID363826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Large1
Ensembl Gene ENSMUSG00000004383
Gene NameLARGE xylosyl- and glucuronyltransferase 1
Synonymsfroggy, BPFD#36, fg, enr
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.560) question?
Stock #IGL02887
Quality Score
Status
Chromosome8
Chromosomal Location72814599-73353540 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73132039 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 67 (V67E)
Ref Sequence ENSEMBL: ENSMUSP00000148336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004497] [ENSMUST00000119826] [ENSMUST00000212459]
Predicted Effect probably benign
Transcript: ENSMUST00000004497
AA Change: V67E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: V67E

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: V67E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: V67E

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: V67E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,258,885 Y69H probably damaging Het
Afap1l2 A T 19: 56,920,563 S310R probably damaging Het
Aldh7a1 A G 18: 56,542,216 probably benign Het
Anxa8 T A 14: 34,096,524 probably null Het
Ap1ar T C 3: 127,808,543 E282G probably damaging Het
Arl6ip6 T G 2: 53,202,927 S155A probably benign Het
Armc9 T C 1: 86,164,835 F107S probably damaging Het
Ash1l C A 3: 88,984,181 D1122E probably benign Het
Atp2b4 T A 1: 133,728,774 I713F probably damaging Het
BC005624 A C 2: 30,973,305 probably benign Het
Calcrl T C 2: 84,339,242 D365G probably benign Het
Ccdc110 A G 8: 45,943,184 N704S probably benign Het
Ccr10 G T 11: 101,174,666 L13I probably benign Het
Cfap52 A G 11: 67,953,515 Y125H probably damaging Het
Cnr2 C A 4: 135,917,625 T338K possibly damaging Het
Cntn2 T A 1: 132,516,570 D935V probably damaging Het
Cog7 T C 7: 121,943,844 K448R possibly damaging Het
Csnk1g2 G A 10: 80,638,535 D197N probably damaging Het
Cyp2e1 T A 7: 140,763,911 S21T probably damaging Het
Dcaf11 T C 14: 55,564,135 F187L probably damaging Het
Dmd T A X: 83,878,504 F1460Y probably benign Het
Dnah11 G A 12: 117,911,040 A4030V probably damaging Het
Dnah7a A G 1: 53,522,360 V2046A possibly damaging Het
Dnajc6 T C 4: 101,639,300 I820T probably damaging Het
Dsel T C 1: 111,860,732 D691G possibly damaging Het
Fbp1 T A 13: 62,869,080 M203L probably benign Het
Fndc1 T C 17: 7,773,638 T409A unknown Het
Golgb1 T G 16: 36,925,849 L2930R probably damaging Het
Htr2a A G 14: 74,645,143 T190A probably benign Het
Klra4 C T 6: 130,044,070 C254Y probably damaging Het
Lins1 T C 7: 66,714,183 S609P probably damaging Het
Magi3 T C 3: 104,095,157 E156G probably damaging Het
Mdh1b A G 1: 63,715,364 probably benign Het
Mfsd6 T C 1: 52,708,878 D276G probably benign Het
Myh9 T A 15: 77,796,020 K185* probably null Het
Myof T C 19: 37,920,779 probably null Het
Naip2 T G 13: 100,161,512 Y672S possibly damaging Het
Nbeal1 A G 1: 60,287,444 probably benign Het
Nbeal2 T A 9: 110,628,276 H2273L probably damaging Het
Neb T C 2: 52,200,721 K1346E possibly damaging Het
Nfatc2 T C 2: 168,504,450 D908G probably damaging Het
Nlgn2 T C 11: 69,827,254 N375S probably benign Het
Nova1 G T 12: 46,720,722 Q139K unknown Het
Olfr328 A G 11: 58,552,161 L26P probably damaging Het
Olfr775 T A 10: 129,250,925 Y130* probably null Het
Olfr978 T A 9: 39,993,813 M1K probably null Het
Opa3 A T 7: 19,228,582 Q47L probably damaging Het
Pacs1 A T 19: 5,135,110 probably benign Het
Pappa2 T A 1: 158,782,259 H1544L probably damaging Het
Pax8 A G 2: 24,444,615 S48P probably damaging Het
Pdilt T C 7: 119,498,049 N70S possibly damaging Het
Poldip3 T C 15: 83,129,268 probably benign Het
Ppp6r1 T A 7: 4,642,212 I80F probably damaging Het
Pycr2 T A 1: 180,904,739 probably null Het
Rapgef2 C T 3: 79,068,880 probably benign Het
Rbm44 T A 1: 91,153,180 D363E probably damaging Het
Rnf213 A T 11: 119,427,510 I1046F probably damaging Het
Ryr2 A G 13: 11,591,269 S4476P probably damaging Het
Scara5 G A 14: 65,762,829 D483N unknown Het
Scmh1 T A 4: 120,468,389 F101Y probably damaging Het
Sgo2a T A 1: 58,016,352 V565E probably damaging Het
Simc1 T C 13: 54,525,258 M473T probably benign Het
Skint6 T A 4: 113,238,184 R93* probably null Het
Skint7 T C 4: 111,982,178 V223A possibly damaging Het
Slc25a2 T C 18: 37,637,886 I197V probably benign Het
Slit2 A G 5: 48,217,474 T361A probably benign Het
Sugp1 G A 8: 70,070,126 G492D probably damaging Het
Svep1 C T 4: 58,145,301 G388D probably damaging Het
Tbpl2 G T 2: 24,093,876 A183E probably damaging Het
Tcerg1l G T 7: 138,229,890 P453T probably damaging Het
Tdpoz2 T C 3: 93,651,739 T309A probably benign Het
Thbs4 T A 13: 92,790,798 Y61F probably benign Het
Tmem117 C A 15: 95,094,775 P439T probably damaging Het
Tmem151a A G 19: 5,082,965 V71A probably benign Het
Tmem268 G T 4: 63,568,454 probably benign Het
Tmem43 T A 6: 91,477,374 Y48N possibly damaging Het
Tmigd1 T C 11: 76,913,986 V217A probably benign Het
Tmprss11g A T 5: 86,497,329 probably benign Het
Tsn T C 1: 118,309,821 I38V probably benign Het
Ttc41 A T 10: 86,733,654 Y632F probably damaging Het
Vmn2r117 C T 17: 23,475,578 probably benign Het
Vmn2r12 A T 5: 109,090,485 I463N probably benign Het
Wdsub1 T A 2: 59,852,832 N466I probably damaging Het
Zdhhc21 A T 4: 82,844,190 I56N probably benign Het
Zfand4 A G 6: 116,273,656 T16A possibly damaging Het
Zmym4 T C 4: 126,948,475 E15G 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
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
IGL02543:Large1 APN 8 73048414 missense probably benign 0.00
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
R7960:Large1 UTSW 8 73116443 missense probably damaging 1.00
Z1088:Large1 UTSW 8 72912103 nonsense probably null
Posted On2015-12-18