Incidental Mutation 'R4205:Glt1d1'
ID |
318864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glt1d1
|
Ensembl Gene |
ENSMUSG00000049971 |
Gene Name |
glycosyltransferase 1 domain containing 1 |
Synonyms |
5730455A04Rik |
MMRRC Submission |
041034-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R4205 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
127709326-127786438 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 127766935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 217
(R217L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118139]
|
AlphaFold |
A4FUP9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000118139
AA Change: R217L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113864 Gene: ENSMUSG00000049971 AA Change: R217L
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
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 |
R3776:Glt1d1
|
UTSW |
5 |
127,771,375 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGTCCCACCTGCATAATTGG -3'
(R):5'- ACCCAAAGCATGACCTTGG -3'
Sequencing Primer
(F):5'- CACACGTCATGGTGCATATG -3'
(R):5'- CTTGGGAGGTCACAGGGAAC -3'
|
Posted On |
2015-06-10 |