Incidental Mutation 'IGL01722:Glt6d1'
| ID |
105140 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glt6d1
|
| Ensembl Gene |
ENSMUSG00000036401 |
| Gene Name |
glycosyltransferase 6 domain containing 1 |
| Synonyms |
4933411C14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01722
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25683871-25705860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25684431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 192
(T192A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038010]
|
| AlphaFold |
Q2NKH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038010
AA Change: T192A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401
AA Change: T192A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
A |
2: 58,173,561 (GRCm39) |
|
probably benign |
Het |
| Alb |
G |
A |
5: 90,618,698 (GRCm39) |
|
probably null |
Het |
| Ankrd9 |
A |
G |
12: 110,943,797 (GRCm39) |
V46A |
probably damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,307 (GRCm39) |
M265L |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,810,598 (GRCm39) |
N97D |
possibly damaging |
Het |
| Cobl |
T |
G |
11: 12,203,987 (GRCm39) |
H823P |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,279,908 (GRCm39) |
H90Q |
probably benign |
Het |
| Dpagt1 |
T |
C |
9: 44,238,899 (GRCm39) |
F73S |
possibly damaging |
Het |
| Dph3 |
C |
T |
14: 31,807,417 (GRCm39) |
E20K |
possibly damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,695,412 (GRCm39) |
T660K |
possibly damaging |
Het |
| Gask1a |
G |
A |
9: 121,794,149 (GRCm39) |
S101N |
possibly damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,358 (GRCm39) |
V649I |
probably benign |
Het |
| Mta3 |
T |
C |
17: 84,063,072 (GRCm39) |
Y4H |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,292,956 (GRCm39) |
L369P |
probably damaging |
Het |
| Or2y1 |
G |
T |
11: 49,385,793 (GRCm39) |
L144F |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,351 (GRCm39) |
C26R |
probably benign |
Het |
| Paxx |
T |
C |
2: 25,350,277 (GRCm39) |
D110G |
probably damaging |
Het |
| Pcyox1 |
T |
G |
6: 86,365,735 (GRCm39) |
D493A |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,535,976 (GRCm39) |
E560G |
probably benign |
Het |
| Rnf6 |
A |
G |
5: 146,147,036 (GRCm39) |
F661L |
probably benign |
Het |
| Sema4a |
T |
C |
3: 88,345,491 (GRCm39) |
K531E |
probably benign |
Het |
| Svs5 |
T |
C |
2: 164,079,446 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tbx4 |
A |
T |
11: 85,802,769 (GRCm39) |
Q242L |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,488 (GRCm39) |
I570F |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,059,322 (GRCm39) |
M908K |
possibly damaging |
Het |
| Trmo |
A |
G |
4: 46,386,092 (GRCm39) |
|
probably null |
Het |
| Usp8 |
T |
A |
2: 126,600,072 (GRCm39) |
L997Q |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,890 (GRCm39) |
R176G |
probably benign |
Het |
| Vps52 |
T |
A |
17: 34,180,589 (GRCm39) |
Y308* |
probably null |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation