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, enr, BPFD#36, fg |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
IGL02543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73541227-74080164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73775042 bp (GRCm39)
|
| 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
| 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: M223L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: M223L
| 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 |
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,495 (GRCm39) |
A193S |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,006,627 (GRCm39) |
T1069A |
probably benign |
Het |
| Arg2 |
A |
T |
12: 79,197,533 (GRCm39) |
I184F |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,942,113 (GRCm39) |
P63S |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,634 (GRCm39) |
H85R |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,291,413 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
G |
8: 125,256,698 (GRCm39) |
N148S |
probably benign |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,720 (GRCm39) |
T162A |
probably damaging |
Het |
| Ddi1 |
C |
T |
9: 6,266,183 (GRCm39) |
G62D |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,878,066 (GRCm39) |
Y435C |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,098,885 (GRCm39) |
C765S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,722,529 (GRCm39) |
D362E |
probably benign |
Het |
| Gm28040 |
A |
T |
1: 133,247,069 (GRCm39) |
I26F |
possibly damaging |
Het |
| Gm28778 |
T |
C |
1: 53,338,202 (GRCm39) |
M22T |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,303 (GRCm39) |
E98G |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,436 (GRCm39) |
I968T |
possibly damaging |
Het |
| Hlx |
T |
G |
1: 184,462,948 (GRCm39) |
S235R |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,933,867 (GRCm39) |
|
probably benign |
Het |
| Kdr |
A |
G |
5: 76,125,607 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,166,685 (GRCm39) |
E435G |
probably damaging |
Het |
| L3mbtl4 |
T |
C |
17: 68,768,607 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,760,413 (GRCm39) |
K2838E |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,561,221 (GRCm39) |
D582G |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,470,211 (GRCm39) |
D314G |
probably damaging |
Het |
| Nip7 |
T |
C |
8: 107,784,825 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
T |
G |
1: 172,957,901 (GRCm39) |
K294N |
probably damaging |
Het |
| Or52ae9 |
A |
T |
7: 103,389,710 (GRCm39) |
C246S |
possibly damaging |
Het |
| Or7a42 |
C |
A |
10: 78,791,773 (GRCm39) |
H245N |
probably damaging |
Het |
| P3h1 |
T |
C |
4: 119,095,053 (GRCm39) |
|
probably benign |
Het |
| Pcp4l1 |
C |
T |
1: 171,003,133 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,330 (GRCm39) |
G118D |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,602,134 (GRCm39) |
D374G |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,497 (GRCm39) |
L534P |
possibly damaging |
Het |
| Rnf123 |
A |
G |
9: 107,943,547 (GRCm39) |
S563P |
probably damaging |
Het |
| Scart1 |
A |
G |
7: 139,800,491 (GRCm39) |
M91V |
probably benign |
Het |
| Sdk2 |
A |
T |
11: 113,759,747 (GRCm39) |
I418N |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,578,688 (GRCm39) |
I655T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,618 (GRCm39) |
K524R |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,123,372 (GRCm39) |
A135V |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,751,991 (GRCm39) |
W942G |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 130,092,840 (GRCm39) |
V1247I |
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,459 (GRCm39) |
T115A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,540,306 (GRCm39) |
T34227A |
probably benign |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,342 (GRCm39) |
D230V |
probably benign |
Het |
| Vmn1r203 |
G |
A |
13: 22,709,074 (GRCm39) |
G285D |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,356 (GRCm39) |
S315P |
probably benign |
Het |
| Vmn2r98 |
T |
G |
17: 19,286,083 (GRCm39) |
S194A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,703,165 (GRCm39) |
S137F |
probably damaging |
Het |
| Wnt7b |
C |
T |
15: 85,443,097 (GRCm39) |
|
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,467,494 (GRCm39) |
C27* |
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 |
|
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 |
|
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 |
Incidental Mutation