Incidental Mutation 'R3776:Glt1d1'
| ID |
273588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glt1d1
|
| Ensembl Gene |
ENSMUSG00000049971 |
| Gene Name |
glycosyltransferase 1 domain containing 1 |
| Synonyms |
5730455A04Rik |
| MMRRC Submission |
040874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R3776 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
127709326-127786438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127771375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 289
(F289I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118139]
|
| AlphaFold |
A4FUP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118139
AA Change: F289I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: F289I
| 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: ENSMUST00000134529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137157
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
C |
T |
17: 57,262,111 (GRCm39) |
V264M |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,283 (GRCm39) |
S479F |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,735,911 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
CTTTTT |
CTTTTTT |
10: 98,815,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,913,438 (GRCm39) |
T529M |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,406,263 (GRCm39) |
E617D |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,880,962 (GRCm39) |
V367A |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,928,900 (GRCm39) |
Q1445* |
probably null |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,588,786 (GRCm39) |
S630G |
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,724 (GRCm39) |
S189P |
probably damaging |
Het |
| Eif6 |
T |
A |
2: 155,668,296 (GRCm39) |
T20S |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,618 (GRCm39) |
V555A |
possibly damaging |
Het |
| Gdpd5 |
G |
A |
7: 99,103,779 (GRCm39) |
R422Q |
probably benign |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,882,182 (GRCm39) |
R204* |
probably null |
Het |
| Hhex |
A |
T |
19: 37,425,718 (GRCm39) |
Q149L |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,874,609 (GRCm39) |
|
probably null |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,219,926 (GRCm39) |
L85H |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Nin |
G |
T |
12: 70,085,456 (GRCm39) |
Q1592K |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,467 (GRCm39) |
E26G |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,108 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,214,992 (GRCm39) |
D1007G |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,612,543 (GRCm39) |
L98P |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,371 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,015,734 (GRCm39) |
V105A |
possibly damaging |
Het |
| Polg2 |
G |
T |
11: 106,670,110 (GRCm39) |
F53L |
probably benign |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 185,009,402 (GRCm39) |
L1086P |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,266,058 (GRCm39) |
N13I |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Ubxn11 |
C |
T |
4: 133,835,605 (GRCm39) |
P4S |
probably damaging |
Het |
| Zg16 |
T |
A |
7: 126,649,704 (GRCm39) |
I86F |
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 |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTAAATGATAGACGCTCGTGG -3'
(R):5'- AGATGCTGCGTGTCCCTC -3'
Sequencing Primer
(F):5'- AGAGGGTCTTTCACAACCTG -3'
(R):5'- CCTCCAGGGTGAGAAAAGAAGTCAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation