Incidental Mutation 'R7300:Large1'
| ID |
566927 |
| 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 |
045404-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R7300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73541227-74080164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 73564224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 514
(L514R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004497]
[ENSMUST00000119826]
[ENSMUST00000212459]
|
| AlphaFold |
Q9Z1M7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004497
AA Change: L514R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: L514R
| 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: L514R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: L514R
| 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: L514R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
94% (45/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,174,411 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
C |
9: 95,747,423 (GRCm39) |
I235T |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,066 (GRCm39) |
E172G |
possibly damaging |
Het |
| Btbd2 |
A |
T |
10: 80,480,100 (GRCm39) |
I420N |
probably damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,845,038 (GRCm39) |
T1343I |
probably benign |
Het |
| Cd59b |
A |
T |
2: 103,914,795 (GRCm39) |
K64N |
possibly damaging |
Het |
| Cd63 |
A |
G |
10: 128,748,034 (GRCm39) |
N144S |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,834,217 (GRCm39) |
K631E |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,464,361 (GRCm39) |
R989Q |
unknown |
Het |
| Cyp4a31 |
A |
G |
4: 115,427,468 (GRCm39) |
T225A |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 30,991,798 (GRCm39) |
E3068A |
probably benign |
Het |
| Fpgt |
C |
T |
3: 154,792,612 (GRCm39) |
V472I |
probably damaging |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
T |
C |
8: 70,737,953 (GRCm39) |
M1T |
probably null |
Het |
| Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,681,721 (GRCm39) |
T109A |
not run |
Het |
| Itgb6 |
T |
C |
2: 60,435,650 (GRCm39) |
D700G |
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,938,612 (GRCm39) |
E327G |
probably damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,076 (GRCm39) |
V81M |
probably damaging |
Het |
| Mstn |
T |
C |
1: 53,103,239 (GRCm39) |
S192P |
probably benign |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,268 (GRCm39) |
N211K |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,588 (GRCm39) |
T151P |
possibly damaging |
Het |
| Or2y1c |
C |
T |
11: 49,361,473 (GRCm39) |
T165I |
probably benign |
Het |
| Or52i2 |
A |
G |
7: 102,319,417 (GRCm39) |
S97G |
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,768,530 (GRCm39) |
I194T |
not run |
Het |
| Or8k25 |
T |
C |
2: 86,244,330 (GRCm39) |
E22G |
probably null |
Het |
| Pde4a |
T |
C |
9: 21,117,618 (GRCm39) |
S627P |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,697,374 (GRCm39) |
I102T |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,645,925 (GRCm39) |
S174P |
probably damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,021,680 (GRCm39) |
V143I |
probably damaging |
Het |
| Pou4f2 |
C |
T |
8: 79,162,735 (GRCm39) |
|
probably null |
Het |
| Ppl |
C |
T |
16: 4,920,235 (GRCm39) |
V387M |
possibly damaging |
Het |
| Pramel43 |
A |
T |
5: 94,760,655 (GRCm39) |
D340E |
probably benign |
Het |
| Rarg |
A |
T |
15: 102,160,852 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,758,936 (GRCm39) |
Y3414C |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,535,053 (GRCm39) |
*375K |
probably null |
Het |
| Sim1 |
C |
T |
10: 50,785,614 (GRCm39) |
H228Y |
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,907,541 (GRCm39) |
H87L |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,205,479 (GRCm39) |
L289Q |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,142,586 (GRCm39) |
L28P |
probably damaging |
Het |
| Vmn2r31 |
C |
A |
7: 7,387,775 (GRCm39) |
A599S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,847,826 (GRCm39) |
V2196A |
probably benign |
Het |
| Zswim5 |
A |
T |
4: 116,833,102 (GRCm39) |
I612F |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,765,830 (GRCm39) |
H1452Q |
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 |
|
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 |
|
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'- GGTACTCATAGAGCCCATACATAGG -3'
(R):5'- TGCTTTACTGATGAGGAACGGAG -3'
Sequencing Primer
(F):5'- CCATACATAGGCAGGAAGTCAATGTC -3'
(R):5'- CTGATGAGGAACGGAGTCATATTTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation