Incidental Mutation 'R0010:Glt6d1'
| ID |
8212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glt6d1
|
| Ensembl Gene |
ENSMUSG00000036401 |
| Gene Name |
glycosyltransferase 6 domain containing 1 |
| Synonyms |
4933411C14Rik |
| MMRRC Submission |
038305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0010 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25683871-25705860 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to A
at 25684739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038010]
[ENSMUST00000038010]
|
| AlphaFold |
Q2NKH9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038010
|
| SMART Domains |
Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
22 |
310 |
6.8e-101 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000038010
|
| SMART Domains |
Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
22 |
310 |
6.8e-101 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143166
|
| Meta Mutation Damage Score |
0.9316 |
| Coding Region Coverage |
- 1x: 79.6%
- 3x: 70.9%
- 10x: 47.0%
- 20x: 26.4%
|
| Validation Efficiency |
91% (78/86) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
C |
T |
5: 81,940,250 (GRCm39) |
A1320V |
possibly damaging |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,942,143 (GRCm39) |
H124L |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
| Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,493,881 (GRCm39) |
K16R |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
| Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
| Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,608,702 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,006 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
| Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
| Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
| Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
| Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
| Trappc14 |
T |
C |
5: 138,258,555 (GRCm39) |
|
probably null |
Het |
| Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
| Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
| Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
| Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Glt6d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Glt6d1
|
APN |
2 |
25,701,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01722:Glt6d1
|
APN |
2 |
25,684,431 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01734:Glt6d1
|
APN |
2 |
25,684,505 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0010:Glt6d1
|
UTSW |
2 |
25,684,739 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0039:Glt6d1
|
UTSW |
2 |
25,684,739 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0079:Glt6d1
|
UTSW |
2 |
25,684,739 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0082:Glt6d1
|
UTSW |
2 |
25,684,739 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0197:Glt6d1
|
UTSW |
2 |
25,684,082 (GRCm39) |
missense |
probably benign |
|
|
R0432:Glt6d1
|
UTSW |
2 |
25,684,739 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0525:Glt6d1
|
UTSW |
2 |
25,684,280 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1494:Glt6d1
|
UTSW |
2 |
25,684,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Glt6d1
|
UTSW |
2 |
25,684,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3720:Glt6d1
|
UTSW |
2 |
25,685,179 (GRCm39) |
frame shift |
probably null |
|
|
R4074:Glt6d1
|
UTSW |
2 |
25,684,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5664:Glt6d1
|
UTSW |
2 |
25,704,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7075:Glt6d1
|
UTSW |
2 |
25,685,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7576:Glt6d1
|
UTSW |
2 |
25,704,134 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9674:Glt6d1
|
UTSW |
2 |
25,684,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Protein Function and Prediction |
Glt6d1 is a member of the glycosyltransferase 6 family, single-pass transmembrane proteins that function in the synthesis of histo-blood related antigens in the Golgi (1). Glycosyltransferases function in developmental signaling (2) and are proposed to function in regulating the spatial and temporal activity of developmental genes as well as to control the sensitivity and specificity to regulatory signals (3). The high expression of Glt6d1 in inflamed gingival tissues indicates that it may be a susceptibility factor for periodontitis (4).
|
| Expression/Localization |
Glt6d1 is highly expressed in the testis, gingiva, and leukocytes (4). Examination of inflamed gingival tissue samples found expression in the epithelium and connective tissue (4).
|
| References |
1. Turcot-Dubois, A. L., Le Moullac-Vaidye, B., Despiau, S., Roubinet, F., Bovin, N., Le Pendu, J., and Blancher, A. (2007) Long-Term Evolution of the CAZY Glycosyltransferase 6 (ABO) Gene Family from Fishes to Mammals--a Birth-and-Death Evolution Model. Glycobiology. 17, 516-528.
4. Schaefer, A. S., Richter, G. M., Nothnagel, M., Manke, T., Dommisch, H., Jacobs, G., Arlt, A., Rosenstiel, P., Noack, B., Groessner-Schreiber, B., Jepsen, S., Loos, B. G., and Schreiber, S. (2010) A Genome-Wide Association Study Identifies GLT6D1 as a Susceptibility Locus for Periodontitis. Hum Mol Genet. 19, 553-562. |
| Posted On |
2012-11-20 |
| Science Writer |
Anne Murray |
Incidental Mutation