Incidental Mutation 'IGL02276:Large1'
ID |
287337 |
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)
|
Stock # |
IGL02276
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
73541227-74080164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73544721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 686
(M686L)
|
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: M686L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000004497 Gene: ENSMUSG00000004383 AA Change: M686L
Domain | Start | End | E-Value | Type |
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: M686L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112617 Gene: ENSMUSG00000004383 AA Change: M686L
Domain | Start | End | E-Value | Type |
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: M686L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
T |
C |
1: 165,386,697 (GRCm39) |
V1140A |
probably damaging |
Het |
Ccdc88b |
A |
G |
19: 6,833,475 (GRCm39) |
|
probably null |
Het |
Cep135 |
A |
G |
5: 76,782,093 (GRCm39) |
N904S |
probably benign |
Het |
Dnajc12 |
G |
A |
10: 63,244,037 (GRCm39) |
R109Q |
probably damaging |
Het |
Dpp4 |
A |
G |
2: 62,187,295 (GRCm39) |
|
probably benign |
Het |
Duox2 |
A |
T |
2: 122,124,566 (GRCm39) |
N380K |
probably benign |
Het |
Dusp11 |
A |
T |
6: 85,935,599 (GRCm39) |
D91E |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,254,703 (GRCm39) |
E266* |
probably null |
Het |
Gm10337 |
A |
G |
15: 102,412,169 (GRCm39) |
V324A |
probably damaging |
Het |
Grik3 |
A |
T |
4: 125,517,295 (GRCm39) |
D46V |
possibly damaging |
Het |
Hdac9 |
G |
A |
12: 34,481,925 (GRCm39) |
T181I |
probably damaging |
Het |
Iigp1c |
A |
T |
18: 60,379,151 (GRCm39) |
I229F |
probably damaging |
Het |
Lca5 |
C |
A |
9: 83,280,638 (GRCm39) |
L387F |
possibly damaging |
Het |
Mtmr9 |
A |
T |
14: 63,767,725 (GRCm39) |
W295R |
probably damaging |
Het |
Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
Or5ac15 |
A |
C |
16: 58,940,378 (GRCm39) |
D18E |
probably benign |
Het |
Phf20l1 |
T |
A |
15: 66,487,259 (GRCm39) |
|
probably null |
Het |
Plce1 |
A |
G |
19: 38,513,201 (GRCm39) |
S167G |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,221,599 (GRCm39) |
D934E |
possibly damaging |
Het |
Pramel17 |
T |
C |
4: 101,695,306 (GRCm39) |
S2G |
possibly damaging |
Het |
Ptpn6 |
A |
C |
6: 124,705,828 (GRCm39) |
D105E |
probably null |
Het |
Rtp1 |
T |
C |
16: 23,250,063 (GRCm39) |
S143P |
probably benign |
Het |
Rttn |
A |
C |
18: 89,066,578 (GRCm39) |
Q1208P |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,438,686 (GRCm39) |
V183D |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,210,712 (GRCm39) |
|
probably benign |
Het |
Trak1 |
A |
T |
9: 121,280,734 (GRCm39) |
E271D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,774,226 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
G |
A |
3: 64,313,877 (GRCm39) |
T279I |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,518,980 (GRCm39) |
|
probably null |
Het |
Zfp819 |
G |
A |
7: 43,261,428 (GRCm39) |
V32I |
possibly damaging |
Het |
|
Other mutations in Large1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2015-04-16 |