Incidental Mutation 'IGL00156:Glt1d1'
ID |
1619 |
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 # |
IGL00156
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
127709326-127786438 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 127709349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118139]
[ENSMUST00000155321]
|
AlphaFold |
A4FUP9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000118139
AA Change: M1T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113864 Gene: ENSMUSG00000049971 AA Change: M1T
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,856,353 (GRCm39) |
|
probably null |
Het |
Adamts19 |
T |
A |
18: 59,157,537 (GRCm39) |
V943E |
probably damaging |
Het |
C530025M09Rik |
C |
A |
2: 149,672,646 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
G |
18: 67,953,407 (GRCm39) |
W475G |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 8,014,795 (GRCm39) |
Y870C |
probably damaging |
Het |
Cyp2a22 |
A |
T |
7: 26,637,163 (GRCm39) |
M207K |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,052,495 (GRCm39) |
V247A |
probably benign |
Het |
Gm9507 |
A |
T |
10: 77,647,114 (GRCm39) |
C188* |
probably null |
Het |
Hectd4 |
T |
C |
5: 121,501,933 (GRCm39) |
V4222A |
possibly damaging |
Het |
Igkv3-3 |
T |
A |
6: 70,664,397 (GRCm39) |
S80T |
possibly damaging |
Het |
Lrrc49 |
T |
C |
9: 60,508,603 (GRCm39) |
K520E |
probably damaging |
Het |
Ltbp1 |
A |
T |
17: 75,692,155 (GRCm39) |
Y1273F |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,823,463 (GRCm39) |
H1478Q |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,736,504 (GRCm39) |
D518G |
probably benign |
Het |
Or1e22 |
T |
A |
11: 73,377,398 (GRCm39) |
N84I |
probably benign |
Het |
Or4a71 |
C |
T |
2: 89,358,551 (GRCm39) |
D68N |
probably damaging |
Het |
Or7e168 |
T |
C |
9: 19,719,692 (GRCm39) |
I26T |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,900,515 (GRCm39) |
S9C |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,098,731 (GRCm39) |
H681R |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,612,281 (GRCm39) |
S644G |
probably benign |
Het |
Sgce |
T |
A |
6: 4,689,750 (GRCm39) |
H361L |
probably damaging |
Het |
Specc1 |
G |
T |
11: 62,008,835 (GRCm39) |
W117L |
probably benign |
Het |
Srrm4 |
A |
G |
5: 116,584,616 (GRCm39) |
S485P |
possibly damaging |
Het |
Traf2 |
G |
T |
2: 25,410,463 (GRCm39) |
Y395* |
probably null |
Het |
Trf |
A |
G |
9: 103,098,156 (GRCm39) |
I34T |
probably benign |
Het |
Vdac2 |
T |
C |
14: 21,888,592 (GRCm39) |
Y165H |
possibly damaging |
Het |
Wwp1 |
T |
C |
4: 19,650,360 (GRCm39) |
T269A |
probably benign |
Het |
|
Other mutations in Glt1d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |