Incidental Mutation 'IGL02573:Mgat5b'
| ID |
299116 |
| 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 # |
IGL02573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116809689-116877774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116868540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 488
(Y488H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103027]
|
| AlphaFold |
Q765H6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103027
AA Change: Y488H
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: Y488H
| 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 |
unknown
Transcript: ENSMUST00000136584
AA Change: Y114H
|
| SMART Domains |
Protein: ENSMUSP00000122276
Gene: ENSMUSG00000043857
AA Change: Y114H
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
T |
A |
4: 98,926,171 (GRCm39) |
W434R |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,512,486 (GRCm39) |
Q344R |
probably benign |
Het |
| B4galt5 |
C |
T |
2: 167,146,982 (GRCm39) |
R284Q |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,915,952 (GRCm39) |
V236G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,457,191 (GRCm39) |
I926V |
possibly damaging |
Het |
| Dgkz |
A |
C |
2: 91,764,542 (GRCm39) |
S1030R |
probably damaging |
Het |
| Disp3 |
T |
A |
4: 148,355,906 (GRCm39) |
D318V |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,136 (GRCm39) |
L58P |
possibly damaging |
Het |
| Ehd1 |
T |
C |
19: 6,344,330 (GRCm39) |
S197P |
probably damaging |
Het |
| Emp1 |
A |
G |
6: 135,356,945 (GRCm39) |
K42R |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,067 (GRCm39) |
T192I |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,423 (GRCm39) |
D433V |
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,561,577 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,852 (GRCm39) |
A208E |
probably damaging |
Het |
| Il5ra |
A |
T |
6: 106,693,712 (GRCm39) |
V342E |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,040,880 (GRCm39) |
F1660S |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,016 (GRCm39) |
E388G |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,125,504 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
T |
13: 12,214,013 (GRCm39) |
D886E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,979 (GRCm39) |
L848* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,702,835 (GRCm39) |
S233P |
probably benign |
Het |
| Nme9 |
A |
T |
9: 99,352,908 (GRCm39) |
D286V |
probably benign |
Het |
| Nod1 |
C |
A |
6: 54,920,930 (GRCm39) |
A463S |
probably benign |
Het |
| Nthl1 |
A |
G |
17: 24,852,949 (GRCm39) |
K51R |
probably benign |
Het |
| Or1n2 |
A |
G |
2: 36,797,566 (GRCm39) |
I203V |
probably damaging |
Het |
| Or6k14 |
T |
A |
1: 173,927,696 (GRCm39) |
V224D |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,582,012 (GRCm39) |
A908V |
probably benign |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pde10a |
A |
C |
17: 9,180,722 (GRCm39) |
I719L |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,270,014 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
T |
6: 140,527,742 (GRCm39) |
A396S |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,664,789 (GRCm39) |
T342A |
probably damaging |
Het |
| Rbck1 |
A |
G |
2: 152,164,087 (GRCm39) |
I339T |
possibly damaging |
Het |
| Rbms2 |
A |
T |
10: 127,979,309 (GRCm39) |
I140N |
probably damaging |
Het |
| Scn1b |
A |
T |
7: 30,822,546 (GRCm39) |
L78Q |
possibly damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,188,986 (GRCm39) |
|
probably null |
Het |
| Slc25a30 |
A |
T |
14: 76,007,108 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
C |
T |
3: 115,783,796 (GRCm39) |
|
probably benign |
Het |
| Slc5a10 |
C |
A |
11: 61,563,898 (GRCm39) |
R546L |
possibly damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,431,095 (GRCm39) |
D405G |
probably damaging |
Het |
| Tm4sf19 |
A |
C |
16: 32,226,678 (GRCm39) |
T156P |
possibly damaging |
Het |
| Tmem37 |
A |
T |
1: 119,995,719 (GRCm39) |
D119E |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,889,117 (GRCm39) |
N113I |
probably damaging |
Het |
| Ubac2 |
T |
A |
14: 122,144,802 (GRCm39) |
Y87N |
possibly damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,617 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,991,736 (GRCm39) |
E428G |
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 |
|
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 |
Incidental Mutation