Incidental Mutation 'IGL01793:Large1'
ID |
155286 |
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: 0.612)
|
Stock # |
IGL01793
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
73541227-74080164 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 73585809 bp (GRCm39)
|
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 benign
Transcript: ENSMUST00000004497
|
SMART Domains |
Protein: ENSMUSP00000004497 Gene: ENSMUSG00000004383
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
|
SMART Domains |
Protein: ENSMUSP00000112617 Gene: ENSMUSG00000004383
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
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
Gramd1a |
C |
T |
7: 30,833,838 (GRCm39) |
|
probably null |
Het |
Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
Kif6 |
T |
A |
17: 49,931,521 (GRCm39) |
I73N |
probably damaging |
Het |
Luzp2 |
G |
T |
7: 54,821,997 (GRCm39) |
L171F |
probably damaging |
Het |
Naaladl1 |
C |
A |
19: 6,159,661 (GRCm39) |
|
probably null |
Het |
Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
Syt1 |
T |
C |
10: 108,419,836 (GRCm39) |
D275G |
possibly damaging |
Het |
Tmx1 |
A |
G |
12: 70,505,561 (GRCm39) |
D108G |
probably benign |
Het |
Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
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 |
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 |
|
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 |
2014-02-04 |