Incidental Mutation 'R3932:Mgat4b'
ID |
308510 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mgat4b
|
Ensembl Gene |
ENSMUSG00000036620 |
Gene Name |
mannoside acetylglucosaminyltransferase 4, isoenzyme B |
Synonyms |
|
MMRRC Submission |
040919-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3932 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
50116162-50125930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50124165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 368
(H368Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041725]
[ENSMUST00000101265]
[ENSMUST00000102772]
[ENSMUST00000125555]
[ENSMUST00000147468]
[ENSMUST00000221525]
|
AlphaFold |
Q812F8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041725
AA Change: H368Q
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000043346 Gene: ENSMUSG00000036620 AA Change: H368Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_54
|
98 |
387 |
6.6e-138 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101265
|
SMART Domains |
Protein: ENSMUSP00000098823 Gene: ENSMUSG00000020377
Domain | Start | End | E-Value | Type |
Pfam:MAPEG
|
8 |
112 |
4e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102772
|
SMART Domains |
Protein: ENSMUSP00000099833 Gene: ENSMUSG00000020377
Domain | Start | End | E-Value | Type |
Pfam:MAPEG
|
8 |
131 |
1.1e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125555
|
SMART Domains |
Protein: ENSMUSP00000121584 Gene: ENSMUSG00000020377
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
low complexity region
|
64 |
83 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133714
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180443
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221525
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221391
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222076
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151803
|
SMART Domains |
Protein: ENSMUSP00000116802 Gene: ENSMUSG00000036620
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_54
|
46 |
252 |
1.9e-89 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222498
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a floxed targeted allele are viable and do not display any gross physical or behavioral abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Arl1 |
C |
T |
10: 88,569,398 (GRCm39) |
|
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,476,852 (GRCm39) |
M1189T |
possibly damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
Cdc34b |
G |
A |
11: 94,633,441 (GRCm39) |
V214M |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,665,619 (GRCm39) |
T2985A |
probably benign |
Het |
Clcc1 |
T |
C |
3: 108,580,682 (GRCm39) |
M332T |
probably damaging |
Het |
Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
Ctdnep1 |
A |
G |
11: 69,880,400 (GRCm39) |
|
probably benign |
Het |
Edar |
C |
T |
10: 58,446,164 (GRCm39) |
C221Y |
probably damaging |
Het |
Fam135b |
T |
A |
15: 71,322,280 (GRCm39) |
Q1295L |
probably benign |
Het |
Fam184a |
C |
T |
10: 53,575,397 (GRCm39) |
A71T |
probably damaging |
Het |
Fbxw10 |
A |
G |
11: 62,759,983 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,542,071 (GRCm39) |
W247R |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,725,893 (GRCm39) |
H553R |
probably benign |
Het |
Grin3a |
C |
T |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
H2-Q6 |
C |
T |
17: 35,644,542 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
Med10 |
A |
G |
13: 69,958,101 (GRCm39) |
N18D |
probably damaging |
Het |
Morn5 |
C |
A |
2: 35,943,035 (GRCm39) |
T45N |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
Myrf |
T |
C |
19: 10,195,515 (GRCm39) |
T432A |
probably damaging |
Het |
Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
Nav3 |
T |
A |
10: 109,529,896 (GRCm39) |
E2148D |
probably damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,433,595 (GRCm39) |
T236A |
possibly damaging |
Het |
Odc1 |
T |
A |
12: 17,598,801 (GRCm39) |
F227Y |
probably benign |
Het |
Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
Or5b21 |
T |
C |
19: 12,839,994 (GRCm39) |
M285T |
possibly damaging |
Het |
Pdcd1 |
T |
C |
1: 93,968,989 (GRCm39) |
I110V |
probably benign |
Het |
Pde5a |
G |
A |
3: 122,554,545 (GRCm39) |
E212K |
probably damaging |
Het |
Plin4 |
A |
G |
17: 56,413,704 (GRCm39) |
I307T |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,473,384 (GRCm39) |
Y586C |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,166,639 (GRCm39) |
|
probably benign |
Het |
Rin3 |
A |
G |
12: 102,356,342 (GRCm39) |
D961G |
probably damaging |
Het |
Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
Slc13a2 |
T |
A |
11: 78,289,226 (GRCm39) |
Y495F |
probably damaging |
Het |
Tfec |
T |
A |
6: 16,845,458 (GRCm39) |
D67V |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,680,080 (GRCm39) |
M30T |
probably benign |
Het |
Tsbp1 |
A |
G |
17: 34,662,417 (GRCm39) |
T86A |
possibly damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,988,617 (GRCm39) |
|
probably benign |
Het |
Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,254,336 (GRCm39) |
M783V |
probably damaging |
Het |
Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
Zfp94 |
T |
G |
7: 24,003,112 (GRCm39) |
D110A |
probably benign |
Het |
|
Other mutations in Mgat4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01628:Mgat4b
|
APN |
11 |
50,124,136 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01980:Mgat4b
|
APN |
11 |
50,121,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02533:Mgat4b
|
APN |
11 |
50,124,379 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02729:Mgat4b
|
APN |
11 |
50,124,136 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02888:Mgat4b
|
APN |
11 |
50,123,159 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03369:Mgat4b
|
APN |
11 |
50,124,936 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0085:Mgat4b
|
UTSW |
11 |
50,121,826 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0136:Mgat4b
|
UTSW |
11 |
50,121,908 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0394:Mgat4b
|
UTSW |
11 |
50,121,746 (GRCm39) |
splice site |
probably null |
|
R0631:Mgat4b
|
UTSW |
11 |
50,121,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R0657:Mgat4b
|
UTSW |
11 |
50,121,908 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4419:Mgat4b
|
UTSW |
11 |
50,123,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R4816:Mgat4b
|
UTSW |
11 |
50,101,848 (GRCm39) |
missense |
probably benign |
0.01 |
R6315:Mgat4b
|
UTSW |
11 |
50,122,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R6677:Mgat4b
|
UTSW |
11 |
50,123,898 (GRCm39) |
splice site |
probably null |
|
R6786:Mgat4b
|
UTSW |
11 |
50,121,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Mgat4b
|
UTSW |
11 |
50,124,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Mgat4b
|
UTSW |
11 |
50,116,497 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8042:Mgat4b
|
UTSW |
11 |
50,123,203 (GRCm39) |
nonsense |
probably null |
|
R8165:Mgat4b
|
UTSW |
11 |
50,101,801 (GRCm39) |
missense |
probably benign |
0.09 |
R8428:Mgat4b
|
UTSW |
11 |
50,121,512 (GRCm39) |
missense |
probably benign |
0.01 |
R8859:Mgat4b
|
UTSW |
11 |
50,121,674 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTCTATAGCAAGGAGAGG -3'
(R):5'- GGGTGAAATGCTGGTACGTC -3'
Sequencing Primer
(F):5'- GAAACTGCTGGCTGAGGAAATCC -3'
(R):5'- AAATGCTGGTACGTCTTGAGGC -3'
|
Posted On |
2015-04-17 |