Incidental Mutation 'IGL01480:Mgat5b'
| ID |
88584 |
| 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: 0.069)
|
| Stock # |
IGL01480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116809689-116877774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 116869278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 607
(T607K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103027]
|
| AlphaFold |
Q765H6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103027
AA Change: T607K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: T607K
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136584
|
| SMART Domains |
Protein: ENSMUSP00000122276
Gene: ENSMUSG00000043857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_18
|
1 |
214 |
3e-116 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139905
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
A |
12: 88,423,635 (GRCm39) |
C379* |
probably null |
Het |
| Ankrd10 |
A |
G |
8: 11,685,592 (GRCm39) |
V9A |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,938,879 (GRCm39) |
|
probably benign |
Het |
| Bbs1 |
T |
C |
19: 4,944,421 (GRCm39) |
K403E |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,615,687 (GRCm39) |
Y284C |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,629 (GRCm39) |
I95V |
probably null |
Het |
| Cyba |
T |
C |
8: 123,151,684 (GRCm39) |
E171G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,349,197 (GRCm39) |
M2480L |
possibly damaging |
Het |
| Fxyd7 |
A |
T |
7: 30,746,799 (GRCm39) |
Y20* |
probably null |
Het |
| Il22ra1 |
T |
C |
4: 135,472,112 (GRCm39) |
V216A |
probably benign |
Het |
| Mapk10 |
G |
A |
5: 103,074,018 (GRCm39) |
|
probably benign |
Het |
| Optn |
G |
A |
2: 5,050,829 (GRCm39) |
S184L |
probably benign |
Het |
| Or10d5 |
G |
A |
9: 39,861,284 (GRCm39) |
A261V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,427 (GRCm39) |
I71L |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,978 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,321,078 (GRCm39) |
L462P |
possibly damaging |
Het |
| Prkca |
C |
T |
11: 108,083,027 (GRCm39) |
V73M |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,877,115 (GRCm39) |
F339L |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,279 (GRCm39) |
V1062A |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,949,110 (GRCm39) |
K354* |
probably null |
Het |
| Sf1 |
T |
C |
19: 6,422,052 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,606,451 (GRCm39) |
S112P |
probably benign |
Het |
| Tlr5 |
G |
A |
1: 182,801,064 (GRCm39) |
E123K |
probably benign |
Het |
| Tpp1 |
T |
C |
7: 105,398,260 (GRCm39) |
E301G |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,116 (GRCm39) |
I176F |
probably benign |
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 |
|
|
IGL02573:Mgat5b
|
APN |
11 |
116,868,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02627:Mgat5b
|
APN |
11 |
116,874,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-18 |
Incidental Mutation