Incidental Mutation 'IGL02603:Glt1d1'
| ID |
300150 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glt1d1
|
| Ensembl Gene |
ENSMUSG00000049971 |
| Gene Name |
glycosyltransferase 1 domain containing 1 |
| Synonyms |
5730455A04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL02603
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
127709326-127786438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 127709409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 21
(R21L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118139]
[ENSMUST00000155321]
|
| AlphaFold |
A4FUP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118139
AA Change: R21L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: R21L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_1
|
153 |
319 |
8.2e-23 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
166 |
305 |
8.7e-15 |
PFAM |
|
Pfam:Glyco_trans_1_2
|
244 |
335 |
8.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144603
|
| SMART Domains |
Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
7 |
127 |
2.2e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155321
|
| SMART Domains |
Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
7 |
105 |
1e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,637,071 (GRCm39) |
S3457P |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,526 (GRCm39) |
I63T |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,289 (GRCm39) |
S286P |
possibly damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,280,807 (GRCm39) |
R946H |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,853,873 (GRCm39) |
S232P |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,125,436 (GRCm39) |
|
noncoding transcript |
Het |
| Haao |
T |
A |
17: 84,142,970 (GRCm39) |
D125V |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,657,588 (GRCm39) |
V832A |
probably damaging |
Het |
| Lrrtm4 |
C |
A |
6: 79,999,967 (GRCm39) |
Q460K |
possibly damaging |
Het |
| Lyar |
A |
G |
5: 38,391,405 (GRCm39) |
N368S |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Lztr1 |
C |
A |
16: 17,327,550 (GRCm39) |
N84K |
possibly damaging |
Het |
| Ndufa8 |
C |
A |
2: 35,934,470 (GRCm39) |
C36F |
probably damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,657 (GRCm39) |
V227E |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,404 (GRCm39) |
S119T |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,526,693 (GRCm39) |
S146P |
probably benign |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Spopfm3 |
A |
T |
3: 94,105,744 (GRCm39) |
T21S |
possibly damaging |
Het |
|
| Other mutations in Glt1d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Glt1d1
|
APN |
5 |
127,709,349 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01310:Glt1d1
|
APN |
5 |
127,709,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01608:Glt1d1
|
APN |
5 |
127,741,746 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01738:Glt1d1
|
APN |
5 |
127,709,419 (GRCm39) |
intron |
probably benign |
|
|
IGL02028:Glt1d1
|
APN |
5 |
127,783,984 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02273:Glt1d1
|
APN |
5 |
127,734,208 (GRCm39) |
splice site |
probably benign |
|
|
IGL02718:Glt1d1
|
APN |
5 |
127,727,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02850:Glt1d1
|
APN |
5 |
127,721,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03328:Glt1d1
|
APN |
5 |
127,734,183 (GRCm39) |
missense |
probably benign |
|
|
R0049:Glt1d1
|
UTSW |
5 |
127,740,391 (GRCm39) |
splice site |
probably benign |
|
|
R0312:Glt1d1
|
UTSW |
5 |
127,768,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Glt1d1
|
UTSW |
5 |
127,734,139 (GRCm39) |
splice site |
probably benign |
|
|
R1838:Glt1d1
|
UTSW |
5 |
127,755,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2060:Glt1d1
|
UTSW |
5 |
127,734,183 (GRCm39) |
missense |
probably benign |
|
|
R2262:Glt1d1
|
UTSW |
5 |
127,734,176 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3776:Glt1d1
|
UTSW |
5 |
127,771,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Glt1d1
|
UTSW |
5 |
127,766,935 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4249:Glt1d1
|
UTSW |
5 |
127,768,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4379:Glt1d1
|
UTSW |
5 |
127,771,346 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5044:Glt1d1
|
UTSW |
5 |
127,721,478 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5289:Glt1d1
|
UTSW |
5 |
127,721,420 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5374:Glt1d1
|
UTSW |
5 |
127,734,148 (GRCm39) |
splice site |
probably null |
|
|
R5533:Glt1d1
|
UTSW |
5 |
127,768,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5592:Glt1d1
|
UTSW |
5 |
127,734,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5870:Glt1d1
|
UTSW |
5 |
127,754,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Glt1d1
|
UTSW |
5 |
127,721,534 (GRCm39) |
splice site |
probably null |
|
|
R6128:Glt1d1
|
UTSW |
5 |
127,754,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Glt1d1
|
UTSW |
5 |
127,783,950 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6490:Glt1d1
|
UTSW |
5 |
127,721,360 (GRCm39) |
splice site |
probably null |
|
|
R6502:Glt1d1
|
UTSW |
5 |
127,784,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8205:Glt1d1
|
UTSW |
5 |
127,768,080 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9231:Glt1d1
|
UTSW |
5 |
127,754,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9699:Glt1d1
|
UTSW |
5 |
127,771,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation