Incidental Mutation 'IGL00468:Glt6d1'
| ID |
7259 |
| 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 # |
IGL00468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25683871-25705860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 25701041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 36
(L36R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038010]
|
| AlphaFold |
Q2NKH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038010
AA Change: L36R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401
AA Change: L36R
| 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
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,630,453 (GRCm39) |
E123G |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,126,061 (GRCm39) |
Y51H |
probably damaging |
Het |
| Bcl11b |
A |
G |
12: 107,932,074 (GRCm39) |
V166A |
possibly damaging |
Het |
| Cfap70 |
T |
A |
14: 20,462,530 (GRCm39) |
D565V |
possibly damaging |
Het |
| Cops5 |
C |
A |
1: 10,104,295 (GRCm39) |
G132W |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,135 (GRCm39) |
V468M |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,711,365 (GRCm39) |
D216E |
probably damaging |
Het |
| Fktn |
T |
A |
4: 53,734,866 (GRCm39) |
I168K |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 93,936,771 (GRCm39) |
R239G |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,895,751 (GRCm39) |
I1000V |
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,569,391 (GRCm39) |
E396A |
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,049,874 (GRCm39) |
V551I |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,391,991 (GRCm39) |
S437R |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,595,151 (GRCm39) |
|
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,816 (GRCm39) |
D155G |
probably damaging |
Het |
| Mcf2 |
G |
A |
X: 59,179,095 (GRCm39) |
T104I |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
A |
G |
14: 61,112,709 (GRCm39) |
E664G |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,385,124 (GRCm39) |
V519D |
probably damaging |
Het |
| Nfil3 |
C |
A |
13: 53,121,610 (GRCm39) |
L431F |
probably damaging |
Het |
| Sctr |
T |
A |
1: 119,972,450 (GRCm39) |
V197E |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,227,124 (GRCm39) |
T103A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,117,390 (GRCm39) |
V453D |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,807 (GRCm39) |
H1023Q |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,947,640 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,982 (GRCm39) |
E262D |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,523,679 (GRCm39) |
H1732Q |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,251,469 (GRCm39) |
D840G |
possibly damaging |
Het |
| Tox4 |
A |
G |
14: 52,523,202 (GRCm39) |
D54G |
probably damaging |
Het |
|
| Other mutations in Glt6d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation