Incidental Mutation 'R1242:Mgat5b'
| ID |
152046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat5b
|
| Ensembl Gene |
ENSMUSG00000043857 |
| Gene Name |
mannoside acetylglucosaminyltransferase 5, isoenzyme B |
| Synonyms |
GnT-IX |
| MMRRC Submission |
039309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116809689-116877774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116869230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 591
(K591R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103027]
|
| AlphaFold |
Q765H6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103027
AA Change: K591R
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: K591R
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
G |
3: 36,632,576 (GRCm39) |
F549L |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,637,937 (GRCm39) |
D4G |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,294 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,981,513 (GRCm39) |
|
probably null |
Het |
| Defb30 |
A |
T |
14: 63,273,455 (GRCm39) |
Y53N |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,782,627 (GRCm39) |
Y363* |
probably null |
Het |
| Fam170a |
A |
G |
18: 50,415,206 (GRCm39) |
E284G |
probably damaging |
Het |
| Gm16505 |
T |
A |
13: 3,411,109 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2h1 |
T |
C |
7: 46,462,175 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
C |
T |
3: 82,013,260 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,022,767 (GRCm39) |
N945I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,955,416 (GRCm39) |
T327I |
probably benign |
Het |
| Il3 |
T |
C |
11: 54,157,929 (GRCm39) |
I50V |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,782 (GRCm39) |
T83I |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,003,728 (GRCm39) |
V275E |
possibly damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,185 (GRCm39) |
I1976F |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,125,575 (GRCm39) |
D313V |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,380,192 (GRCm39) |
L188Q |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,650 (GRCm39) |
P295L |
probably damaging |
Het |
| Vmn1r38 |
A |
C |
6: 66,753,344 (GRCm39) |
Y257* |
probably null |
Het |
| Xkr4 |
T |
A |
1: 3,286,360 (GRCm39) |
D610V |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAATGGCTGCATCTTCCTACAG -3'
(R):5'- ACAGTATGACGGGTCAGAGTCTCAC -3'
Sequencing Primer
(F):5'- TCAACCACGAGTTCTTCCG -3'
(R):5'- CCTGGGTGACCCACACTATG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation