Incidental Mutation 'IGL00233:Mgat5b'
ID |
306858 |
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 # |
IGL00233
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
116809689-116877774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116822488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 74
(M74K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103027]
|
AlphaFold |
Q765H6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103027
AA Change: M74K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099316 Gene: ENSMUSG00000043857 AA Change: M74K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_18
|
184 |
777 |
3.5e-269 |
PFAM |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aimp1 |
A |
T |
3: 132,382,904 (GRCm39) |
|
probably benign |
Het |
Arpc5 |
A |
G |
1: 152,644,658 (GRCm39) |
I64V |
probably benign |
Het |
C030048H21Rik |
G |
A |
2: 26,146,632 (GRCm39) |
R1227W |
probably damaging |
Het |
Cacnb1 |
T |
C |
11: 97,913,190 (GRCm39) |
E21G |
possibly damaging |
Het |
Catsper3 |
A |
G |
13: 55,946,635 (GRCm39) |
K111E |
possibly damaging |
Het |
Cda |
T |
C |
4: 138,095,157 (GRCm39) |
Y33C |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,726,124 (GRCm39) |
R3118W |
probably damaging |
Het |
Clvs1 |
G |
A |
4: 9,281,939 (GRCm39) |
G128R |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,224,306 (GRCm39) |
S163G |
unknown |
Het |
Cyp4v3 |
T |
C |
8: 45,760,040 (GRCm39) |
D64G |
probably benign |
Het |
Dst |
C |
A |
1: 34,290,920 (GRCm39) |
L837M |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,294,536 (GRCm39) |
I1349N |
probably damaging |
Het |
Elob |
C |
A |
17: 24,043,954 (GRCm39) |
|
probably null |
Het |
Glipr1 |
T |
A |
10: 111,821,555 (GRCm39) |
I216L |
probably benign |
Het |
Gm3238 |
C |
T |
10: 77,607,126 (GRCm39) |
|
probably benign |
Het |
Gm43638 |
C |
T |
5: 87,608,258 (GRCm39) |
R527H |
probably damaging |
Het |
H2-M11 |
A |
G |
17: 36,858,445 (GRCm39) |
K80E |
probably benign |
Het |
Htt |
A |
G |
5: 35,053,370 (GRCm39) |
|
probably null |
Het |
Kif26a |
A |
G |
12: 112,124,066 (GRCm39) |
S224G |
probably damaging |
Het |
Ms4a7 |
A |
T |
19: 11,299,724 (GRCm39) |
V89D |
probably damaging |
Het |
Nlrx1 |
G |
A |
9: 44,175,365 (GRCm39) |
T137I |
probably benign |
Het |
Pcdhb12 |
A |
G |
18: 37,570,035 (GRCm39) |
T394A |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,340,982 (GRCm39) |
I151T |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,445,695 (GRCm39) |
V50A |
probably benign |
Het |
Prkd2 |
T |
C |
7: 16,599,787 (GRCm39) |
F750S |
probably damaging |
Het |
Psmd13 |
T |
C |
7: 140,477,534 (GRCm39) |
V311A |
probably damaging |
Het |
Rec8 |
C |
T |
14: 55,860,972 (GRCm39) |
Q334* |
probably null |
Het |
Rfx7 |
G |
A |
9: 72,514,972 (GRCm39) |
V157I |
probably damaging |
Het |
Sele |
G |
A |
1: 163,879,403 (GRCm39) |
C312Y |
probably damaging |
Het |
Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
Tma16 |
G |
T |
8: 66,933,097 (GRCm39) |
Q95K |
probably benign |
Het |
Vmn1r191 |
T |
C |
13: 22,362,890 (GRCm39) |
D288G |
probably damaging |
Het |
Vmn1r231 |
A |
T |
17: 21,110,828 (GRCm39) |
I29N |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,389 (GRCm39) |
L750* |
probably null |
Het |
|
Other mutations in Mgat5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2015-04-16 |