Incidental Mutation 'IGL01738:Glt1d1'
| ID |
105779 |
| 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 # |
IGL01738
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
127709326-127786438 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 127709419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118139]
[ENSMUST00000155321]
|
| AlphaFold |
A4FUP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118139
|
| SMART Domains |
Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,436,668 (GRCm39) |
D288V |
probably damaging |
Het |
| Agtr1a |
G |
A |
13: 30,565,021 (GRCm39) |
V29I |
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,933,600 (GRCm39) |
C364F |
probably damaging |
Het |
| Calcrl |
T |
G |
2: 84,200,793 (GRCm39) |
M84L |
probably benign |
Het |
| Cep128 |
C |
A |
12: 91,197,616 (GRCm39) |
G402C |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,785,624 (GRCm39) |
L422P |
probably damaging |
Het |
| Cnbd2 |
C |
A |
2: 156,217,537 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,182,016 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,731,745 (GRCm39) |
S134P |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,114,922 (GRCm39) |
L179R |
possibly damaging |
Het |
| Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
| Gfm1 |
A |
G |
3: 67,363,994 (GRCm39) |
E490G |
probably benign |
Het |
| Gm10267 |
A |
T |
18: 44,292,342 (GRCm39) |
I10K |
possibly damaging |
Het |
| Htra4 |
A |
G |
8: 25,515,727 (GRCm39) |
V437A |
probably damaging |
Het |
| Ighv1-69 |
T |
C |
12: 115,587,061 (GRCm39) |
Q24R |
possibly damaging |
Het |
| Igkv14-111 |
G |
A |
6: 68,233,443 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
A |
T |
10: 6,840,575 (GRCm39) |
I374N |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,373,648 (GRCm39) |
D1447G |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,873,749 (GRCm39) |
F1681S |
probably damaging |
Het |
| Mmp3 |
A |
T |
9: 7,446,946 (GRCm39) |
N42I |
possibly damaging |
Het |
| Mybpc1 |
G |
T |
10: 88,406,507 (GRCm39) |
F126L |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,266,652 (GRCm39) |
K631E |
probably damaging |
Het |
| Or8b43 |
A |
C |
9: 38,360,942 (GRCm39) |
Y258S |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,411,144 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,097,091 (GRCm39) |
L124R |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,224,164 (GRCm39) |
I95V |
probably benign |
Het |
| Sstr5 |
A |
T |
17: 25,710,584 (GRCm39) |
I215N |
probably damaging |
Het |
| Top3b |
G |
A |
16: 16,698,468 (GRCm39) |
V104M |
probably benign |
Het |
| Tspan8 |
G |
A |
10: 115,653,570 (GRCm39) |
|
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,898,020 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r17 |
G |
A |
5: 109,577,364 (GRCm39) |
G472S |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 120,918,308 (GRCm39) |
L438Q |
probably 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 |
|
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 |
|
|
IGL02603:Glt1d1
|
APN |
5 |
127,709,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation