Incidental Mutation 'R0791:Large1'
| ID |
82398 |
| 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 |
038971-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R0791 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73541227-74080164 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 73775107 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 |
noncoding transcript
Transcript: ENSMUST00000146249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212459
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
98% (59/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,720,439 (GRCm39) |
V66A |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,936,046 (GRCm39) |
T950A |
possibly damaging |
Het |
| Ceacam19 |
A |
T |
7: 19,616,557 (GRCm39) |
|
probably null |
Het |
| Cenpn |
T |
A |
8: 117,667,559 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,998,517 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Clca3a1 |
A |
C |
3: 144,710,615 (GRCm39) |
S863A |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
| Dock4 |
C |
T |
12: 40,754,480 (GRCm39) |
R490W |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,738,282 (GRCm39) |
S59G |
probably benign |
Het |
| Glb1l2 |
A |
G |
9: 26,681,047 (GRCm39) |
V218A |
possibly damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,980,801 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
| H2-Ob |
C |
A |
17: 34,461,588 (GRCm39) |
T109N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,723,225 (GRCm39) |
V64A |
possibly damaging |
Het |
| Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
| Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,012 (GRCm39) |
V256E |
possibly damaging |
Het |
| Mpz |
C |
A |
1: 170,986,343 (GRCm39) |
Q86K |
possibly damaging |
Het |
| Mrps24 |
A |
G |
11: 5,654,684 (GRCm39) |
V90A |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,116,528 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,402,449 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,169,656 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,532,634 (GRCm39) |
S1781T |
probably benign |
Het |
| Nedd1 |
T |
C |
10: 92,555,476 (GRCm39) |
E3G |
probably damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
| Or5p56 |
A |
G |
7: 107,589,740 (GRCm39) |
H56R |
probably benign |
Het |
| Osbp2 |
G |
A |
11: 3,661,882 (GRCm39) |
|
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,568,637 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,543,021 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,638,197 (GRCm39) |
N103S |
possibly damaging |
Het |
| Sema3g |
T |
A |
14: 30,942,861 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,421 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,577,119 (GRCm39) |
M1K |
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,247,732 (GRCm39) |
H321Q |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,693 (GRCm39) |
|
probably benign |
Het |
| Tymp |
T |
C |
15: 89,259,021 (GRCm39) |
K221R |
probably damaging |
Het |
| Uaca |
C |
A |
9: 60,779,341 (GRCm39) |
Q1243K |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,232,016 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
T |
4: 137,016,594 (GRCm39) |
R83W |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,609,510 (GRCm39) |
Y738* |
probably null |
Het |
| Zkscan4 |
A |
C |
13: 21,668,081 (GRCm39) |
E177D |
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 |
|
|
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 |
|
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'- GCTCTGCAATGTCTGTTGCAAAGG -3'
(R):5'- GGAAGCACTCACACTAACTTAGCCG -3'
Sequencing Primer
(F):5'- CTGTTGCAAAGGTGATGTCGG -3'
(R):5'- TGCTAATAGCAATAAAGCCTGTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation