Incidental Mutation 'IGL01315:Mgat5b'
| ID |
73812 |
| 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 # |
IGL01315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116809689-116877774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116814215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 40
(S40P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103027]
|
| AlphaFold |
Q765H6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103027
AA Change: S40P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: S40P
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
T |
C |
5: 31,050,578 (GRCm39) |
S409P |
probably benign |
Het |
| Ankdd1a |
T |
A |
9: 65,415,984 (GRCm39) |
H187L |
probably damaging |
Het |
| Ap2a1 |
A |
T |
7: 44,565,713 (GRCm39) |
D51E |
possibly damaging |
Het |
| Ccn3 |
T |
C |
15: 54,612,656 (GRCm39) |
S222P |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,985 (GRCm39) |
|
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,705,881 (GRCm39) |
D91G |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,910,351 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,375,194 (GRCm39) |
V551A |
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,274,301 (GRCm39) |
S354P |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,841,993 (GRCm39) |
F140L |
probably damaging |
Het |
| Hnmt |
A |
G |
2: 23,909,180 (GRCm39) |
Y78H |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,234,972 (GRCm39) |
H396L |
unknown |
Het |
| Krt87 |
A |
G |
15: 101,384,848 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
G |
3: 104,703,261 (GRCm39) |
V876A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,500 (GRCm39) |
V2031A |
probably damaging |
Het |
| Ntm |
T |
A |
9: 28,925,480 (GRCm39) |
S26C |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,429,322 (GRCm39) |
T1552I |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,659,975 (GRCm39) |
D453V |
probably damaging |
Het |
| Pkd2l1 |
C |
T |
19: 44,180,635 (GRCm39) |
D27N |
probably benign |
Het |
| Plppr5 |
G |
T |
3: 117,456,175 (GRCm39) |
C232F |
probably damaging |
Het |
| Slc39a2 |
G |
T |
14: 52,132,593 (GRCm39) |
E179* |
probably null |
Het |
| Slc8a3 |
A |
G |
12: 81,361,169 (GRCm39) |
V550A |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,968 (GRCm39) |
T626S |
probably benign |
Het |
| Tars1 |
A |
C |
15: 11,389,820 (GRCm39) |
Y363* |
probably null |
Het |
| Unc79 |
T |
C |
12: 103,054,780 (GRCm39) |
I906T |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,365,811 (GRCm39) |
P2222S |
possibly damaging |
Het |
| Wdr31 |
A |
C |
4: 62,374,074 (GRCm39) |
V306G |
probably damaging |
Het |
| Zdhhc1 |
C |
A |
8: 106,199,630 (GRCm39) |
R389S |
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 |
|
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 |
2013-10-07 |
Incidental Mutation