Incidental Mutation 'R0587:Large1'
ID |
55810 |
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 |
038777-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.586)
|
Stock # |
R0587 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
73541227-74080164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73585961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 382
(N382D)
|
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: N382D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000004497 Gene: ENSMUSG00000004383 AA Change: N382D
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: N382D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112617 Gene: ENSMUSG00000004383 AA Change: N382D
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: N382D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.9064 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
Validation Efficiency |
94% (34/36) |
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 |
2310061I04Rik |
T |
C |
17: 36,203,855 (GRCm39) |
*212W |
probably null |
Het |
Abca1 |
A |
G |
4: 53,107,035 (GRCm39) |
Y231H |
probably benign |
Het |
Abca5 |
T |
G |
11: 110,202,203 (GRCm39) |
I401L |
probably benign |
Het |
Ak2 |
A |
G |
4: 128,896,171 (GRCm39) |
D112G |
probably damaging |
Het |
Ankrd60 |
T |
A |
2: 173,410,644 (GRCm39) |
D292V |
possibly damaging |
Het |
Bank1 |
A |
G |
3: 135,919,798 (GRCm39) |
|
probably benign |
Het |
Bod1l |
G |
A |
5: 41,978,980 (GRCm39) |
S778L |
probably benign |
Het |
Cep76 |
C |
A |
18: 67,756,245 (GRCm39) |
E529* |
probably null |
Het |
Col24a1 |
T |
C |
3: 144,998,906 (GRCm39) |
V13A |
possibly damaging |
Het |
Ctsc |
T |
A |
7: 87,946,437 (GRCm39) |
H154Q |
probably benign |
Het |
Ctsf |
A |
G |
19: 4,905,766 (GRCm39) |
E87G |
probably benign |
Het |
Dmxl1 |
A |
T |
18: 50,068,374 (GRCm39) |
T2716S |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,212,382 (GRCm39) |
|
probably benign |
Het |
Fcsk |
T |
A |
8: 111,609,957 (GRCm39) |
Q1019L |
probably damaging |
Het |
Hnrnpul1 |
T |
A |
7: 25,444,657 (GRCm39) |
Y217F |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,758,831 (GRCm39) |
M1039K |
probably damaging |
Het |
Madd |
A |
G |
2: 90,977,230 (GRCm39) |
V1402A |
probably damaging |
Het |
Mlh3 |
C |
T |
12: 85,313,193 (GRCm39) |
V998M |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,548,616 (GRCm39) |
Y71C |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,861,634 (GRCm39) |
D139N |
unknown |
Het |
Nes |
C |
A |
3: 87,885,876 (GRCm39) |
H1378Q |
probably benign |
Het |
Or4c12 |
T |
C |
2: 89,773,736 (GRCm39) |
H241R |
probably damaging |
Het |
Otud6b |
T |
C |
4: 14,815,661 (GRCm39) |
E243G |
probably benign |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,739,088 (GRCm39) |
R912L |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,155,497 (GRCm39) |
I2449T |
possibly damaging |
Het |
Slc12a5 |
G |
A |
2: 164,818,453 (GRCm39) |
M217I |
probably damaging |
Het |
Sorl1 |
C |
A |
9: 41,895,802 (GRCm39) |
W1784C |
probably damaging |
Het |
Spatc1l |
A |
G |
10: 76,400,011 (GRCm39) |
R178G |
possibly damaging |
Het |
Strada |
A |
C |
11: 106,061,790 (GRCm39) |
Y154D |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,532,887 (GRCm39) |
T424A |
probably damaging |
Het |
Tbx1 |
C |
T |
16: 18,402,243 (GRCm39) |
A245T |
possibly damaging |
Het |
Tmem143 |
T |
C |
7: 45,556,478 (GRCm39) |
L161P |
probably 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCTGAGCTGGATGTAGTACCC -3'
(R):5'- CAGAGGCAAACTTGGTTCTATCCCC -3'
Sequencing Primer
(F):5'- CTGGATGTAGTACCCAACAAGGAC -3'
(R):5'- AAACTTGGTTCTATCCCCAGCAC -3'
|
Posted On |
2013-07-11 |