Incidental Mutation 'IGL03006:Txlnb'
ID |
407572 |
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: 0.067)
|
Stock # |
IGL03006
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 17714723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 385
(A385V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
AlphaFold |
Q8VBT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037964
AA Change: A385V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000044936 Gene: ENSMUSG00000039891 AA Change: A385V
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
A |
11: 109,718,671 (GRCm39) |
S21C |
probably damaging |
Het |
2210408I21Rik |
T |
C |
13: 77,471,891 (GRCm39) |
|
probably null |
Het |
Abcc3 |
T |
C |
11: 94,259,421 (GRCm39) |
D340G |
probably benign |
Het |
Adamts17 |
G |
T |
7: 66,728,095 (GRCm39) |
R879L |
possibly damaging |
Het |
Adissp |
A |
C |
2: 130,993,634 (GRCm39) |
D22E |
probably damaging |
Het |
Cacna1f |
C |
A |
X: 7,493,142 (GRCm39) |
T1275K |
probably damaging |
Het |
Csmd2 |
T |
A |
4: 128,374,558 (GRCm39) |
|
probably benign |
Het |
Dll1 |
C |
T |
17: 15,593,854 (GRCm39) |
R171Q |
probably benign |
Het |
Dnm1 |
T |
A |
2: 32,243,133 (GRCm39) |
D30V |
possibly damaging |
Het |
Fam184a |
G |
A |
10: 53,574,793 (GRCm39) |
S216L |
probably damaging |
Het |
Fbxo33 |
G |
A |
12: 59,251,105 (GRCm39) |
A470V |
probably benign |
Het |
Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
Ighv7-1 |
A |
T |
12: 113,860,145 (GRCm39) |
S82R |
probably damaging |
Het |
Klk1b4 |
A |
G |
7: 43,861,019 (GRCm39) |
I221V |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,601,425 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
A |
G |
14: 75,051,060 (GRCm39) |
L359P |
probably damaging |
Het |
Mapk8ip3 |
T |
C |
17: 25,120,489 (GRCm39) |
T882A |
probably benign |
Het |
Med12 |
C |
T |
X: 100,321,684 (GRCm39) |
R456W |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,521,253 (GRCm39) |
S267P |
probably damaging |
Het |
Mtpap |
G |
A |
18: 4,375,721 (GRCm39) |
G34R |
possibly damaging |
Het |
Nf1 |
G |
A |
11: 79,436,257 (GRCm39) |
D1966N |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,071,507 (GRCm39) |
T867I |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,335,596 (GRCm39) |
V941I |
probably benign |
Het |
Or5k1b |
T |
A |
16: 58,581,511 (GRCm39) |
K9N |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,333,937 (GRCm39) |
I84V |
probably damaging |
Het |
Polr3d |
T |
A |
14: 70,678,603 (GRCm39) |
|
probably null |
Het |
Prkar2a |
G |
T |
9: 108,617,640 (GRCm39) |
V233L |
probably benign |
Het |
Prl4a1 |
T |
C |
13: 28,207,359 (GRCm39) |
V211A |
probably damaging |
Het |
Qpct |
T |
C |
17: 79,378,151 (GRCm39) |
V107A |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,079,031 (GRCm39) |
S1032P |
possibly damaging |
Het |
Rims1 |
G |
T |
1: 22,367,178 (GRCm39) |
T1113K |
probably damaging |
Het |
Rxra |
C |
T |
2: 27,649,657 (GRCm39) |
T454I |
probably damaging |
Het |
S100z |
T |
C |
13: 95,615,127 (GRCm39) |
I13V |
probably damaging |
Het |
Scp2 |
T |
C |
4: 107,948,477 (GRCm39) |
K167E |
probably benign |
Het |
Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,286,514 (GRCm39) |
E520G |
unknown |
Het |
Slc28a2 |
G |
A |
2: 122,283,019 (GRCm39) |
V308M |
possibly damaging |
Het |
Smarcad1 |
T |
A |
6: 65,060,873 (GRCm39) |
I451K |
probably benign |
Het |
Tarbp1 |
C |
T |
8: 127,170,881 (GRCm39) |
D1040N |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,936,323 (GRCm39) |
D1575G |
probably damaging |
Het |
Tll1 |
T |
A |
8: 64,527,251 (GRCm39) |
|
probably benign |
Het |
Tsks |
A |
T |
7: 44,600,198 (GRCm39) |
|
probably benign |
Het |
Ttc1 |
A |
T |
11: 43,636,147 (GRCm39) |
M32K |
probably benign |
Het |
Zc4h2 |
T |
C |
X: 94,687,019 (GRCm39) |
H98R |
probably damaging |
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 |
17,717,276 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2016-08-02 |