Incidental Mutation 'R5120:Large1'
ID 392938
Institutional Source Beutler Lab
Gene Symbol Large1
Ensembl Gene ENSMUSG00000004383
Gene Name LARGE xylosyl- and glucuronyltransferase 1
Synonyms froggy, enr, BPFD#36, fg
MMRRC Submission 042708-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # R5120 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73541227-74080164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73585969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 379 (I379N)
Ref Sequence ENSEMBL: ENSMUSP00000148336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004497] [ENSMUST00000119826] [ENSMUST00000212459]
AlphaFold Q9Z1M7
Predicted Effect probably damaging
Transcript: ENSMUST00000004497
AA Change: I379N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: I379N

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 damaging
Transcript: ENSMUST00000119826
AA Change: I379N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: I379N

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 damaging
Transcript: ENSMUST00000212459
AA Change: I379N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.9421 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 100% (97/97)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,101,061 (GRCm39) H225R probably benign Het
Abcc9 T A 6: 142,602,344 (GRCm39) I690F probably benign Het
Acp4 A T 7: 43,906,395 (GRCm39) D52E probably damaging Het
Adam17 T C 12: 21,393,020 (GRCm39) probably benign Het
Adamts15 T C 9: 30,832,872 (GRCm39) E221G probably damaging Het
Aoc2 A G 11: 101,216,540 (GRCm39) T208A probably benign Het
Apoa4 T G 9: 46,154,035 (GRCm39) I212S probably damaging Het
Bptf A T 11: 106,964,211 (GRCm39) M1598K probably damaging Het
Camsap3 G A 8: 3,650,680 (GRCm39) R209Q probably damaging Het
Ccdc171 C A 4: 83,476,763 (GRCm39) probably benign Het
Celsr2 G C 3: 108,300,436 (GRCm39) P2875A probably benign Het
Cenpb A G 2: 131,021,738 (GRCm39) V20A probably benign Het
Cfap61 A T 2: 145,985,080 (GRCm39) K975* probably null Het
Cfhr4 T C 1: 139,680,841 (GRCm39) S226G probably benign Het
Col9a2 G T 4: 120,896,969 (GRCm39) A20S unknown Het
Crnn A T 3: 93,056,203 (GRCm39) I330F probably benign Het
Csf3r C A 4: 125,929,620 (GRCm39) P381Q probably benign Het
Csmd3 G A 15: 48,536,891 (GRCm39) Q104* probably null Het
Ctnna1 G A 18: 35,315,607 (GRCm39) probably null Het
Cwf19l2 C T 9: 3,418,761 (GRCm39) Q183* probably null Het
Ddx60 T C 8: 62,398,940 (GRCm39) Y220H probably benign Het
Dhh T C 15: 98,796,038 (GRCm39) Q39R probably benign Het
Dynlrb2 T A 8: 117,242,437 (GRCm39) I89N possibly damaging Het
Dytn T C 1: 63,662,202 (GRCm39) E645G probably benign Het
Efcab7 A G 4: 99,754,688 (GRCm39) T287A probably damaging Het
Eogt A G 6: 97,111,276 (GRCm39) V195A probably benign Het
Ep400 G T 5: 110,904,224 (GRCm39) P125Q probably damaging Het
Fasn A G 11: 120,702,217 (GRCm39) V1815A probably benign Het
Gm5866 T C 5: 52,740,224 (GRCm39) noncoding transcript Het
Gm8674 C A 13: 50,055,984 (GRCm39) noncoding transcript Het
Gpat4 G T 8: 23,670,218 (GRCm39) H270Q possibly damaging Het
Grik5 A G 7: 24,710,065 (GRCm39) L890P probably damaging Het
Gsap A G 5: 21,474,934 (GRCm39) N500S probably damaging Het
H2-M10.1 T C 17: 36,636,048 (GRCm39) D173G probably benign Het
Igfn1 T A 1: 135,901,240 (GRCm39) I413F possibly damaging Het
Ighv1-52 G T 12: 115,109,406 (GRCm39) H17N probably benign Het
Kcnu1 T A 8: 26,424,516 (GRCm39) D270E possibly damaging Het
Kif16b A C 2: 142,690,259 (GRCm39) N274K probably damaging Het
Klk1b11 C T 7: 43,648,446 (GRCm39) T151I probably benign Het
Krtap13 A G 16: 88,548,458 (GRCm39) F10S probably damaging Het
Lhx8 T C 3: 154,017,332 (GRCm39) H301R probably damaging Het
Lrriq3 T C 3: 154,835,021 (GRCm39) V252A probably benign Het
Lysmd3 T A 13: 81,817,311 (GRCm39) I96N probably damaging Het
Mpeg1 C T 19: 12,438,793 (GRCm39) Q84* probably null Het
Myoz1 C T 14: 20,700,722 (GRCm39) G165D probably benign Het
Myt1 G A 2: 181,439,413 (GRCm39) V312I probably benign Het
Ndufb7 T C 8: 84,293,606 (GRCm39) probably benign Het
Numa1 C T 7: 101,626,644 (GRCm39) T10M probably damaging Het
Or10d1b T A 9: 39,613,366 (GRCm39) H233L probably benign Het
Or1e30 A C 11: 73,677,790 (GRCm39) I9L probably benign Het
Or2g7 A T 17: 38,378,157 (GRCm39) I32F probably damaging Het
Or4f14d A T 2: 111,960,903 (GRCm39) D84E probably damaging Het
Or4k39 T C 2: 111,239,585 (GRCm39) noncoding transcript Het
Osmr A T 15: 6,856,756 (GRCm39) S464T probably benign Het
Pak5 G A 2: 135,925,149 (GRCm39) H718Y probably damaging Het
Pan2 T A 10: 128,150,864 (GRCm39) probably null Het
Pik3r4 T C 9: 105,546,208 (GRCm39) S853P probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Polr3gl T A 3: 96,485,795 (GRCm39) probably benign Het
Psd2 G A 18: 36,112,863 (GRCm39) R186Q possibly damaging Het
Psd4 T C 2: 24,295,450 (GRCm39) V868A probably benign Het
Ralgapa2 G T 2: 146,254,004 (GRCm39) T852K probably benign Het
Rbm43 T C 2: 51,822,435 (GRCm39) probably benign Het
Rps6kl1 C A 12: 85,186,122 (GRCm39) G329C probably damaging Het
Scaf11 T C 15: 96,317,423 (GRCm39) T714A probably benign Het
Selenoo C A 15: 88,978,508 (GRCm39) N310K possibly damaging Het
Sepsecs T C 5: 52,818,003 (GRCm39) Q258R probably damaging Het
Sgcz T C 8: 37,993,420 (GRCm39) S226G probably benign Het
Slfn5 A G 11: 82,851,754 (GRCm39) K627E probably damaging Het
Sos1 A T 17: 80,715,677 (GRCm39) F1027I probably damaging Het
Ssh1 C G 5: 114,095,459 (GRCm39) V228L possibly damaging Het
Sugp1 C A 8: 70,501,317 (GRCm39) P65T probably benign Het
Tas2r106 T A 6: 131,655,779 (GRCm39) N24I probably damaging Het
Tex10 T C 4: 48,459,272 (GRCm39) E534G possibly damaging Het
Tmem182 C T 1: 40,894,061 (GRCm39) T192I possibly damaging Het
Traf7 T A 17: 24,737,718 (GRCm39) K51* probably null Het
Trap1 C A 16: 3,861,952 (GRCm39) R604L probably damaging Het
Trim6 T A 7: 103,877,447 (GRCm39) L179Q probably damaging Het
Ubfd1 T C 7: 121,670,973 (GRCm39) S264P probably damaging Het
Upk3bl T C 5: 136,093,045 (GRCm39) probably benign Het
Wdfy3 T A 5: 102,015,972 (GRCm39) Q2601L possibly damaging Het
Wdr89 A G 12: 75,679,412 (GRCm39) Y281H probably damaging Het
Zfp286 A T 11: 62,671,551 (GRCm39) M174K probably benign Het
Zmym1 T C 4: 126,945,230 (GRCm39) 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
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
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
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
Predicted Primers PCR Primer
(F):5'- GCTGGATGTAGTACCCAACAAGG -3'
(R):5'- AGGCAAACTTGGTTCTATCCCC -3'

Sequencing Primer
(F):5'- AGAGTATGGCCAATCTCCCTGATG -3'
(R):5'- AAACTTGGTTCTATCCCCAGCAC -3'
Posted On 2016-06-15