Incidental Mutation 'IGL01929:Large1'
| ID |
180379 |
| 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 # |
IGL01929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73541227-74080164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73585903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 401
(Y401C)
|
| 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: Y401C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: Y401C
| 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 damaging
Transcript: ENSMUST00000119826
AA Change: Y401C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: Y401C
| 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 damaging
Transcript: ENSMUST00000212459
AA Change: Y401C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
G |
A |
3: 89,251,445 (GRCm39) |
P467S |
probably benign |
Het |
| Areg |
T |
C |
5: 91,292,312 (GRCm39) |
I204T |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,550,874 (GRCm39) |
Y3137* |
probably null |
Het |
| Dnajc10 |
T |
G |
2: 80,158,420 (GRCm39) |
C270W |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,449,217 (GRCm39) |
F427L |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,803,388 (GRCm39) |
D1664V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm6686 |
G |
A |
17: 15,786,577 (GRCm39) |
|
probably benign |
Het |
| Grik4 |
C |
A |
9: 42,477,594 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
G |
A |
17: 34,313,056 (GRCm39) |
|
probably null |
Het |
| Iigp1c |
A |
G |
18: 60,379,554 (GRCm39) |
E363G |
probably benign |
Het |
| Il20ra |
T |
G |
10: 19,635,019 (GRCm39) |
L420R |
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 189,072,227 (GRCm39) |
S34P |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,955,173 (GRCm39) |
|
probably null |
Het |
| Lrrc59 |
T |
C |
11: 94,534,342 (GRCm39) |
V300A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,167,698 (GRCm39) |
D1094E |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,331,169 (GRCm39) |
I1230N |
possibly damaging |
Het |
| Or55b3 |
A |
G |
7: 102,126,373 (GRCm39) |
S235P |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,985,587 (GRCm39) |
T146A |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,753,478 (GRCm39) |
V221A |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,213 (GRCm39) |
T705S |
probably benign |
Het |
| Ptprm |
G |
A |
17: 66,997,544 (GRCm39) |
A1184V |
probably damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,310,383 (GRCm39) |
K260N |
possibly damaging |
Het |
| Rbm28 |
T |
A |
6: 29,128,584 (GRCm39) |
D46V |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 141,938,785 (GRCm39) |
Y403H |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,968,353 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,894,231 (GRCm39) |
K803* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,851 (GRCm39) |
I674F |
possibly damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,545 (GRCm39) |
D176V |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 7,950,115 (GRCm39) |
|
probably null |
Het |
| Xdh |
A |
T |
17: 74,241,850 (GRCm39) |
C150S |
probably damaging |
Het |
| Xpo5 |
G |
T |
17: 46,513,855 (GRCm39) |
M3I |
probably benign |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation