Incidental Mutation 'IGL02247:Txlnb'
ID |
286256 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Txlnb
|
Ensembl Gene |
ENSMUSG00000039891 |
Gene Name |
taxilin beta |
Synonyms |
Mdp77, 2310001N14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL02247
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 17717276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
AlphaFold |
Q8VBT1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037964
|
SMART Domains |
Protein: ENSMUSP00000044936 Gene: ENSMUSG00000039891
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
5 |
22 |
2.13e-6 |
PROSPERO |
internal_repeat_1
|
25 |
93 |
4.27e-8 |
PROSPERO |
low complexity region
|
115 |
128 |
N/A |
INTRINSIC |
Pfam:Taxilin
|
145 |
454 |
3.1e-122 |
PFAM |
low complexity region
|
477 |
491 |
N/A |
INTRINSIC |
internal_repeat_2
|
543 |
560 |
2.13e-6 |
PROSPERO |
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
internal_repeat_1
|
600 |
659 |
4.27e-8 |
PROSPERO |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl2 |
A |
G |
2: 26,974,905 (GRCm39) |
R177G |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,531,303 (GRCm39) |
|
probably null |
Het |
Ascc3 |
A |
C |
10: 50,526,686 (GRCm39) |
K595T |
probably damaging |
Het |
Cnpy4 |
A |
G |
5: 138,191,125 (GRCm39) |
T234A |
probably benign |
Het |
Col13a1 |
T |
C |
10: 61,797,124 (GRCm39) |
Y101C |
probably damaging |
Het |
Crybg3 |
A |
G |
16: 59,323,513 (GRCm39) |
I2809T |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dgkz |
T |
C |
2: 91,767,805 (GRCm39) |
S824G |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
Efhb |
C |
T |
17: 53,708,652 (GRCm39) |
V673I |
probably benign |
Het |
Egr1 |
T |
C |
18: 34,995,916 (GRCm39) |
Y233H |
possibly damaging |
Het |
Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
Galt |
A |
G |
4: 41,755,623 (GRCm39) |
|
probably benign |
Het |
Gm4795 |
T |
C |
10: 44,883,211 (GRCm39) |
|
noncoding transcript |
Het |
Gm6563 |
G |
A |
19: 23,653,392 (GRCm39) |
E61K |
possibly damaging |
Het |
Igkv1-133 |
G |
A |
6: 67,702,590 (GRCm39) |
V103M |
probably damaging |
Het |
Iqcb1 |
T |
A |
16: 36,660,258 (GRCm39) |
H140Q |
probably benign |
Het |
Itpk1 |
G |
T |
12: 102,589,668 (GRCm39) |
P74Q |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,317,153 (GRCm39) |
W803R |
probably damaging |
Het |
Lgr4 |
A |
T |
2: 109,832,846 (GRCm39) |
D312V |
probably benign |
Het |
Lgr4 |
C |
T |
2: 109,838,420 (GRCm39) |
|
probably benign |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mllt6 |
C |
A |
11: 97,561,158 (GRCm39) |
A282E |
probably benign |
Het |
Mtif2 |
T |
C |
11: 29,490,642 (GRCm39) |
S449P |
possibly damaging |
Het |
Nrg3 |
T |
C |
14: 38,093,269 (GRCm39) |
I533M |
probably damaging |
Het |
Nynrin |
C |
T |
14: 56,109,167 (GRCm39) |
Q1425* |
probably null |
Het |
Or12e13 |
A |
G |
2: 87,663,873 (GRCm39) |
I163M |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,688 (GRCm39) |
M85L |
probably benign |
Het |
Or4n4b |
T |
A |
14: 50,536,571 (GRCm39) |
N65I |
probably damaging |
Het |
Or4p22 |
C |
T |
2: 88,317,771 (GRCm39) |
H232Y |
probably benign |
Het |
Or56a3 |
T |
A |
7: 104,735,530 (GRCm39) |
Y202* |
probably null |
Het |
Or5b3 |
T |
A |
19: 13,388,831 (GRCm39) |
S299R |
probably benign |
Het |
Or7e175 |
G |
A |
9: 20,048,516 (GRCm39) |
V35I |
probably benign |
Het |
Plcb4 |
C |
T |
2: 135,836,245 (GRCm39) |
T20I |
possibly damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,763,721 (GRCm39) |
T771K |
probably benign |
Het |
Prss22 |
T |
C |
17: 24,215,363 (GRCm39) |
T138A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,005,677 (GRCm39) |
S907T |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,993,134 (GRCm39) |
Y521* |
probably null |
Het |
Sacs |
T |
C |
14: 61,429,984 (GRCm39) |
F678S |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,647,372 (GRCm39) |
|
probably benign |
Het |
Sumf2 |
T |
C |
5: 129,888,986 (GRCm39) |
V258A |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,396,827 (GRCm39) |
Y722F |
probably damaging |
Het |
Tecpr1 |
A |
G |
5: 144,143,372 (GRCm39) |
F668L |
possibly damaging |
Het |
Timd4 |
T |
C |
11: 46,706,558 (GRCm39) |
F120S |
probably damaging |
Het |
Tnnt3 |
T |
C |
7: 142,062,062 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
G |
A |
2: 121,067,070 (GRCm39) |
S552F |
probably damaging |
Het |
Uroc1 |
A |
G |
6: 90,324,910 (GRCm39) |
E461G |
probably benign |
Het |
Vps45 |
G |
A |
3: 95,950,236 (GRCm39) |
T231I |
probably damaging |
Het |
Zfp648 |
T |
A |
1: 154,079,923 (GRCm39) |
S27R |
probably benign |
Het |
|
Other mutations in Txlnb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00815:Txlnb
|
APN |
10 |
17,718,711 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01820:Txlnb
|
APN |
10 |
17,682,606 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02244:Txlnb
|
APN |
10 |
17,719,116 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02247:Txlnb
|
APN |
10 |
17,706,090 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02931:Txlnb
|
APN |
10 |
17,703,730 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03006:Txlnb
|
APN |
10 |
17,714,723 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02991:Txlnb
|
UTSW |
10 |
17,717,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Txlnb
|
UTSW |
10 |
17,718,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0800:Txlnb
|
UTSW |
10 |
17,675,240 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0908:Txlnb
|
UTSW |
10 |
17,674,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R1172:Txlnb
|
UTSW |
10 |
17,718,504 (GRCm39) |
missense |
probably benign |
0.23 |
R1174:Txlnb
|
UTSW |
10 |
17,718,504 (GRCm39) |
missense |
probably benign |
0.23 |
R1340:Txlnb
|
UTSW |
10 |
17,718,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R1373:Txlnb
|
UTSW |
10 |
17,714,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R1641:Txlnb
|
UTSW |
10 |
17,682,521 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1680:Txlnb
|
UTSW |
10 |
17,718,981 (GRCm39) |
missense |
probably benign |
0.01 |
R1710:Txlnb
|
UTSW |
10 |
17,719,203 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1741:Txlnb
|
UTSW |
10 |
17,714,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Txlnb
|
UTSW |
10 |
17,675,168 (GRCm39) |
missense |
probably damaging |
0.98 |
R2031:Txlnb
|
UTSW |
10 |
17,706,062 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4300:Txlnb
|
UTSW |
10 |
17,703,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R4483:Txlnb
|
UTSW |
10 |
17,714,745 (GRCm39) |
nonsense |
probably null |
|
R4484:Txlnb
|
UTSW |
10 |
17,714,745 (GRCm39) |
nonsense |
probably null |
|
R4656:Txlnb
|
UTSW |
10 |
17,691,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Txlnb
|
UTSW |
10 |
17,718,942 (GRCm39) |
missense |
probably damaging |
0.99 |
R4723:Txlnb
|
UTSW |
10 |
17,675,015 (GRCm39) |
missense |
probably benign |
0.02 |
R4974:Txlnb
|
UTSW |
10 |
17,714,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5291:Txlnb
|
UTSW |
10 |
17,675,144 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5538:Txlnb
|
UTSW |
10 |
17,714,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R5791:Txlnb
|
UTSW |
10 |
17,674,876 (GRCm39) |
missense |
probably benign |
0.01 |
R5967:Txlnb
|
UTSW |
10 |
17,675,168 (GRCm39) |
missense |
probably damaging |
0.98 |
R6144:Txlnb
|
UTSW |
10 |
17,718,914 (GRCm39) |
missense |
probably benign |
0.17 |
R6212:Txlnb
|
UTSW |
10 |
17,675,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Txlnb
|
UTSW |
10 |
17,703,546 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7171:Txlnb
|
UTSW |
10 |
17,718,732 (GRCm39) |
missense |
probably benign |
0.22 |
R7253:Txlnb
|
UTSW |
10 |
17,703,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R7468:Txlnb
|
UTSW |
10 |
17,675,082 (GRCm39) |
missense |
probably damaging |
0.96 |
R7608:Txlnb
|
UTSW |
10 |
17,691,146 (GRCm39) |
missense |
probably damaging |
0.98 |
R7936:Txlnb
|
UTSW |
10 |
17,703,712 (GRCm39) |
missense |
probably benign |
0.26 |
R8245:Txlnb
|
UTSW |
10 |
17,717,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R8262:Txlnb
|
UTSW |
10 |
17,718,752 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8435:Txlnb
|
UTSW |
10 |
17,703,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R8933:Txlnb
|
UTSW |
10 |
17,682,546 (GRCm39) |
missense |
probably damaging |
0.97 |
R9218:Txlnb
|
UTSW |
10 |
17,718,570 (GRCm39) |
missense |
probably damaging |
0.99 |
R9329:Txlnb
|
UTSW |
10 |
17,682,594 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Txlnb
|
UTSW |
10 |
17,675,170 (GRCm39) |
missense |
probably benign |
0.39 |
Z1177:Txlnb
|
UTSW |
10 |
17,709,056 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1177:Txlnb
|
UTSW |
10 |
17,703,552 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Txlnb
|
UTSW |
10 |
17,682,554 (GRCm39) |
missense |
probably benign |
0.33 |
|
Posted On |
2015-04-16 |