Incidental Mutation 'IGL01640:B3gntl1'
| ID |
93117 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B3gntl1
|
| Ensembl Gene |
ENSMUSG00000046605 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 |
| Synonyms |
6030413G23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
IGL01640
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
121507023-121563979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121563846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 5
(E5K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062654]
[ENSMUST00000067399]
|
| AlphaFold |
Q3U129 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062654
AA Change: E5K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049890
Gene: ENSMUSG00000046605
AA Change: E5K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_tranf_2_3
|
14 |
244 |
3e-13 |
PFAM |
|
Pfam:Glycos_transf_2
|
17 |
189 |
2.2e-24 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
17 |
237 |
9.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067399
AA Change: E5K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068590
Gene: ENSMUSG00000046605
AA Change: E5K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_tranf_2_3
|
14 |
245 |
1.4e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
17 |
189 |
1.2e-23 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
17 |
248 |
2.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,587 (GRCm39) |
T3A |
probably damaging |
Het |
| 4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
| Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
| Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,303 (GRCm39) |
F44L |
probably damaging |
Het |
| Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
| Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,668,292 (GRCm39) |
I453V |
possibly damaging |
Het |
| Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
| Lrrc19 |
C |
T |
4: 94,526,745 (GRCm39) |
V271I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,958 (GRCm39) |
|
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,214,228 (GRCm39) |
V86A |
probably damaging |
Het |
| Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
| Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
| Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
| Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
| Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
| Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
| Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
| Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
| Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
| Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in B3gntl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01573:B3gntl1
|
APN |
11 |
121,561,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02609:B3gntl1
|
APN |
11 |
121,535,427 (GRCm39) |
splice site |
probably benign |
|
|
R0370:B3gntl1
|
UTSW |
11 |
121,514,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:B3gntl1
|
UTSW |
11 |
121,510,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:B3gntl1
|
UTSW |
11 |
121,563,851 (GRCm39) |
missense |
probably benign |
|
|
R0520:B3gntl1
|
UTSW |
11 |
121,514,314 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0541:B3gntl1
|
UTSW |
11 |
121,535,430 (GRCm39) |
splice site |
probably benign |
|
|
R1460:B3gntl1
|
UTSW |
11 |
121,530,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1600:B3gntl1
|
UTSW |
11 |
121,521,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:B3gntl1
|
UTSW |
11 |
121,535,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4884:B3gntl1
|
UTSW |
11 |
121,520,795 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5779:B3gntl1
|
UTSW |
11 |
121,542,502 (GRCm39) |
splice site |
probably null |
|
|
R7387:B3gntl1
|
UTSW |
11 |
121,520,741 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7421:B3gntl1
|
UTSW |
11 |
121,515,004 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7506:B3gntl1
|
UTSW |
11 |
121,561,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:B3gntl1
|
UTSW |
11 |
121,542,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7715:B3gntl1
|
UTSW |
11 |
121,530,622 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8809:B3gntl1
|
UTSW |
11 |
121,521,690 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9245:B3gntl1
|
UTSW |
11 |
121,514,770 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9577:B3gntl1
|
UTSW |
11 |
121,515,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9770:B3gntl1
|
UTSW |
11 |
121,521,652 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:B3gntl1
|
UTSW |
11 |
121,530,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation