Incidental Mutation 'IGL02627:Mgat5b'
| ID |
301144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgat5b
|
| Ensembl Gene |
ENSMUSG00000043857 |
| Gene Name |
mannoside acetylglucosaminyltransferase 5, isoenzyme B |
| Synonyms |
GnT-IX |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116809689-116877774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116874442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 625
(Y625H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103027]
|
| AlphaFold |
Q765H6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103027
AA Change: Y625H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: Y625H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_18
|
184 |
777 |
3.5e-269 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126757
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit low levels of O-man-linked beta1,6-branched glycans. Mice homozygous for a different knock-out allele exhibit decreased susceptibility to cuprizone induced injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,685,777 (GRCm39) |
K353M |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,157,302 (GRCm39) |
Y100H |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap418 |
G |
A |
4: 10,898,039 (GRCm39) |
C207Y |
probably damaging |
Het |
| Ckap5 |
A |
T |
2: 91,406,366 (GRCm39) |
N752I |
probably damaging |
Het |
| Dgkz |
T |
A |
2: 91,769,055 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
A |
11: 16,819,346 (GRCm39) |
V292E |
probably damaging |
Het |
| Gnb3 |
T |
C |
6: 124,811,678 (GRCm39) |
T329A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,810 (GRCm39) |
T40S |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,724,120 (GRCm39) |
|
probably benign |
Het |
| Mbip |
T |
C |
12: 56,382,590 (GRCm39) |
Q292R |
probably benign |
Het |
| Ms4a4d |
A |
T |
19: 11,525,987 (GRCm39) |
E40D |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,156 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,686,759 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,636,714 (GRCm39) |
V529A |
probably damaging |
Het |
| Osr2 |
A |
G |
15: 35,300,600 (GRCm39) |
N52S |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,606,593 (GRCm39) |
D778G |
possibly damaging |
Het |
| Rsl1d1 |
G |
T |
16: 11,012,415 (GRCm39) |
A337E |
possibly damaging |
Het |
| Sall3 |
A |
T |
18: 81,015,576 (GRCm39) |
L784Q |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,200,326 (GRCm39) |
I2744T |
probably damaging |
Het |
| Tfip11 |
A |
C |
5: 112,477,679 (GRCm39) |
S145R |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,295 (GRCm39) |
D559G |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,229 (GRCm39) |
S325T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,771,472 (GRCm39) |
V472D |
probably damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,746 (GRCm39) |
T29S |
probably benign |
Het |
| Vps29 |
T |
C |
5: 122,500,908 (GRCm39) |
S158P |
probably benign |
Het |
| Wdr82 |
T |
C |
9: 106,053,886 (GRCm39) |
V79A |
possibly damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,383 (GRCm39) |
E37D |
possibly damaging |
Het |
|
| Other mutations in Mgat5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Mgat5b
|
APN |
11 |
116,822,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01315:Mgat5b
|
APN |
11 |
116,814,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Mgat5b
|
APN |
11 |
116,864,202 (GRCm39) |
missense |
probably benign |
|
|
IGL01480:Mgat5b
|
APN |
11 |
116,869,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02573:Mgat5b
|
APN |
11 |
116,868,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03053:Mgat5b
|
APN |
11 |
116,814,276 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0149:Mgat5b
|
UTSW |
11 |
116,875,965 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Mgat5b
|
UTSW |
11 |
116,868,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1242:Mgat5b
|
UTSW |
11 |
116,869,230 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1341:Mgat5b
|
UTSW |
11 |
116,869,223 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1666:Mgat5b
|
UTSW |
11 |
116,874,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1667:Mgat5b
|
UTSW |
11 |
116,838,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1668:Mgat5b
|
UTSW |
11 |
116,874,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1702:Mgat5b
|
UTSW |
11 |
116,839,485 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1828:Mgat5b
|
UTSW |
11 |
116,868,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Mgat5b
|
UTSW |
11 |
116,838,174 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2102:Mgat5b
|
UTSW |
11 |
116,810,255 (GRCm39) |
start gained |
probably benign |
|
|
R2382:Mgat5b
|
UTSW |
11 |
116,810,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4995:Mgat5b
|
UTSW |
11 |
116,865,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5028:Mgat5b
|
UTSW |
11 |
116,875,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Mgat5b
|
UTSW |
11 |
116,868,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5403:Mgat5b
|
UTSW |
11 |
116,839,483 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5643:Mgat5b
|
UTSW |
11 |
116,864,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5644:Mgat5b
|
UTSW |
11 |
116,864,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7116:Mgat5b
|
UTSW |
11 |
116,835,785 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7238:Mgat5b
|
UTSW |
11 |
116,875,809 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7284:Mgat5b
|
UTSW |
11 |
116,835,746 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7440:Mgat5b
|
UTSW |
11 |
116,859,271 (GRCm39) |
nonsense |
probably null |
|
|
R7721:Mgat5b
|
UTSW |
11 |
116,857,627 (GRCm39) |
missense |
|
|
|
R8179:Mgat5b
|
UTSW |
11 |
116,822,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8229:Mgat5b
|
UTSW |
11 |
116,838,213 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9091:Mgat5b
|
UTSW |
11 |
116,859,269 (GRCm39) |
missense |
|
|
|
R9129:Mgat5b
|
UTSW |
11 |
116,859,348 (GRCm39) |
splice site |
probably benign |
|
|
R9270:Mgat5b
|
UTSW |
11 |
116,859,269 (GRCm39) |
missense |
|
|
|
R9352:Mgat5b
|
UTSW |
11 |
116,857,533 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9518:Mgat5b
|
UTSW |
11 |
116,869,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9721:Mgat5b
|
UTSW |
11 |
116,857,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Mgat5b
|
UTSW |
11 |
116,838,074 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2015-04-16 |
Incidental Mutation