Incidental Mutation 'R5597:Mgat5'
| ID |
437850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat5
|
| Ensembl Gene |
ENSMUSG00000036155 |
| Gene Name |
mannoside acetylglucosaminyltransferase 5 |
| Synonyms |
4930471A21Rik, 5330407H02Rik, GlcNAc-TV, beta1,6N-acetylglucosaminyltransferase V |
| MMRRC Submission |
043149-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127132450-127413760 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127325303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 390
(Y390C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038361]
[ENSMUST00000171405]
|
| AlphaFold |
Q8R4G6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038361
AA Change: Y390C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038359
Gene: ENSMUSG00000036155
AA Change: Y390C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4525
|
2 |
138 |
3.4e-70 |
PFAM |
|
Pfam:Glyco_transf_18
|
171 |
725 |
9.8e-268 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171405
AA Change: Y390C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129166
Gene: ENSMUSG00000036155
AA Change: Y390C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4525
|
3 |
137 |
9.3e-64 |
PFAM |
|
Pfam:Glyco_transf_18
|
171 |
725 |
1.9e-268 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190921
|
| Meta Mutation Damage Score |
0.7477 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for deficiencies in this gene have immune system abnormalities and reduced cancer growth and metastasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,927,363 (GRCm39) |
T1330I |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,816,487 (GRCm39) |
V322A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,131 (GRCm39) |
M1207K |
probably benign |
Het |
| Btla |
A |
G |
16: 45,064,599 (GRCm39) |
T183A |
probably benign |
Het |
| Cdca8 |
G |
A |
4: 124,812,793 (GRCm39) |
R286W |
probably damaging |
Het |
| Cnot6l |
T |
C |
5: 96,278,978 (GRCm39) |
D80G |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,952,097 (GRCm39) |
D93G |
probably damaging |
Het |
| Ctsk |
T |
C |
3: 95,409,007 (GRCm39) |
V130A |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,591 (GRCm39) |
E2294G |
possibly damaging |
Het |
| Dcaf5 |
G |
T |
12: 80,386,817 (GRCm39) |
S436R |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,573,611 (GRCm39) |
L1792H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,231,794 (GRCm39) |
V3307A |
probably benign |
Het |
| Frrs1 |
C |
T |
3: 116,671,887 (GRCm39) |
|
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,698 (GRCm39) |
L151P |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,720,657 (GRCm39) |
N166S |
probably benign |
Het |
| Hp1bp3 |
A |
T |
4: 137,948,939 (GRCm39) |
M1L |
possibly damaging |
Het |
| Igkv4-56 |
T |
A |
6: 69,564,467 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,127,716 (GRCm39) |
C396R |
probably damaging |
Het |
| Lars2 |
A |
T |
9: 123,284,047 (GRCm39) |
D745V |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,433,570 (GRCm39) |
|
probably benign |
Het |
| Mapk4 |
T |
A |
18: 74,070,341 (GRCm39) |
Y184F |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,030,789 (GRCm39) |
S889P |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,382,978 (GRCm39) |
S100P |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,506 (GRCm39) |
H154L |
probably benign |
Het |
| Olig2 |
A |
T |
16: 91,023,768 (GRCm39) |
M161L |
probably benign |
Het |
| Or2ah1 |
T |
C |
2: 85,653,804 (GRCm39) |
L163P |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,918,710 (GRCm39) |
V215D |
unknown |
Het |
| Or6c214 |
T |
C |
10: 129,590,755 (GRCm39) |
D188G |
probably damaging |
Het |
| Palmd |
T |
A |
3: 116,717,225 (GRCm39) |
D424V |
probably damaging |
Het |
| Pdzk1ip1 |
A |
G |
4: 114,950,689 (GRCm39) |
N164D |
probably damaging |
Het |
| Prkag1 |
A |
G |
15: 98,713,789 (GRCm39) |
S14P |
probably damaging |
Het |
| Prss12 |
C |
T |
3: 123,258,389 (GRCm39) |
P161L |
probably benign |
Het |
| Pwwp2a |
T |
C |
11: 43,573,422 (GRCm39) |
V168A |
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,024 (GRCm39) |
D79G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,542,082 (GRCm39) |
I19F |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,194,897 (GRCm39) |
H236Q |
probably damaging |
Het |
| Slco3a1 |
C |
A |
7: 73,934,210 (GRCm39) |
R654L |
probably benign |
Het |
| Smad4 |
A |
C |
18: 73,795,898 (GRCm39) |
F165L |
probably benign |
Het |
| Swsap1 |
G |
T |
9: 21,867,242 (GRCm39) |
R62M |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,202,724 (GRCm39) |
M113K |
probably benign |
Het |
| Tmem225 |
A |
G |
9: 40,060,726 (GRCm39) |
N95S |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,577,765 (GRCm39) |
L658H |
probably damaging |
Het |
| Trem2 |
G |
A |
17: 48,658,840 (GRCm39) |
V202I |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,303,498 (GRCm39) |
L289F |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,651 (GRCm39) |
D205V |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,073 (GRCm39) |
D377G |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,781,436 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,166 (GRCm39) |
C432S |
probably benign |
Het |
|
| Other mutations in Mgat5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Mgat5
|
APN |
1 |
127,315,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00813:Mgat5
|
APN |
1 |
127,312,543 (GRCm39) |
missense |
probably benign |
|
|
IGL01795:Mgat5
|
APN |
1 |
127,396,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01830:Mgat5
|
APN |
1 |
127,339,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01879:Mgat5
|
APN |
1 |
127,325,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02322:Mgat5
|
APN |
1 |
127,310,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02621:Mgat5
|
APN |
1 |
127,325,326 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02695:Mgat5
|
APN |
1 |
127,339,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03142:Mgat5
|
APN |
1 |
127,339,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cowlick
|
UTSW |
1 |
127,399,301 (GRCm39) |
missense |
probably benign |
0.36 |
|
Curls
|
UTSW |
1 |
127,248,371 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0518:Mgat5
|
UTSW |
1 |
127,312,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Mgat5
|
UTSW |
1 |
127,339,985 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1480:Mgat5
|
UTSW |
1 |
127,387,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Mgat5
|
UTSW |
1 |
127,325,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1712:Mgat5
|
UTSW |
1 |
127,248,375 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1744:Mgat5
|
UTSW |
1 |
127,407,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Mgat5
|
UTSW |
1 |
127,387,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Mgat5
|
UTSW |
1 |
127,387,696 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2054:Mgat5
|
UTSW |
1 |
127,325,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Mgat5
|
UTSW |
1 |
127,396,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Mgat5
|
UTSW |
1 |
127,374,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2566:Mgat5
|
UTSW |
1 |
127,234,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3498:Mgat5
|
UTSW |
1 |
127,312,571 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3788:Mgat5
|
UTSW |
1 |
127,294,180 (GRCm39) |
missense |
probably benign |
|
|
R4674:Mgat5
|
UTSW |
1 |
127,318,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Mgat5
|
UTSW |
1 |
127,396,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Mgat5
|
UTSW |
1 |
127,396,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Mgat5
|
UTSW |
1 |
127,387,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5310:Mgat5
|
UTSW |
1 |
127,315,251 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5337:Mgat5
|
UTSW |
1 |
127,387,658 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5599:Mgat5
|
UTSW |
1 |
127,325,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Mgat5
|
UTSW |
1 |
127,315,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Mgat5
|
UTSW |
1 |
127,310,676 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6042:Mgat5
|
UTSW |
1 |
127,387,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Mgat5
|
UTSW |
1 |
127,310,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6492:Mgat5
|
UTSW |
1 |
127,399,301 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6662:Mgat5
|
UTSW |
1 |
127,396,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Mgat5
|
UTSW |
1 |
127,248,371 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6981:Mgat5
|
UTSW |
1 |
127,318,588 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7110:Mgat5
|
UTSW |
1 |
127,310,716 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7133:Mgat5
|
UTSW |
1 |
127,292,926 (GRCm39) |
missense |
probably benign |
|
|
R7142:Mgat5
|
UTSW |
1 |
127,339,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Mgat5
|
UTSW |
1 |
127,373,999 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7506:Mgat5
|
UTSW |
1 |
127,294,192 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7790:Mgat5
|
UTSW |
1 |
127,339,941 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7980:Mgat5
|
UTSW |
1 |
127,407,248 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8548:Mgat5
|
UTSW |
1 |
127,248,409 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9008:Mgat5
|
UTSW |
1 |
127,407,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Mgat5
|
UTSW |
1 |
127,294,197 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9279:Mgat5
|
UTSW |
1 |
127,325,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Mgat5
|
UTSW |
1 |
127,248,445 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0028:Mgat5
|
UTSW |
1 |
127,294,222 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Mgat5
|
UTSW |
1 |
127,410,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTTAACTCCCAGAACCATAAAC -3'
(R):5'- ATAAGGGTTCTGAGACTCGCAAG -3'
Sequencing Primer
(F):5'- TAAGAAAACAAGACCTAAGCTGCTTC -3'
(R):5'- TTCTGAGACTCGCAAGCCCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation