Incidental Mutation 'IGL01820:Txlnb'
ID |
154533 |
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 # |
IGL01820
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 17682606 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 null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175676
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,765,896 (GRCm39) |
|
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,886,664 (GRCm39) |
|
probably null |
Het |
Akna |
G |
T |
4: 63,304,495 (GRCm39) |
T553N |
probably benign |
Het |
Boc |
A |
G |
16: 44,312,235 (GRCm39) |
I609T |
possibly damaging |
Het |
Btbd9 |
C |
T |
17: 30,746,383 (GRCm39) |
V148I |
possibly damaging |
Het |
Cacna1d |
A |
T |
14: 29,764,823 (GRCm39) |
I2049N |
possibly damaging |
Het |
Cdhr1 |
A |
T |
14: 36,807,536 (GRCm39) |
M368K |
probably benign |
Het |
Cftr |
A |
G |
6: 18,226,138 (GRCm39) |
Y362C |
probably damaging |
Het |
Cnppd1 |
G |
T |
1: 75,116,236 (GRCm39) |
|
probably null |
Het |
Col3a1 |
T |
C |
1: 45,360,768 (GRCm39) |
I66T |
unknown |
Het |
Col5a2 |
C |
A |
1: 45,481,985 (GRCm39) |
M46I |
unknown |
Het |
Csmd3 |
G |
T |
15: 47,470,538 (GRCm39) |
C3379* |
probably null |
Het |
Ctla2b |
T |
A |
13: 61,044,503 (GRCm39) |
*28C |
probably null |
Het |
Ddhd2 |
C |
T |
8: 26,239,781 (GRCm39) |
E33K |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,773,092 (GRCm39) |
H387R |
probably damaging |
Het |
Dyrk1b |
T |
A |
7: 27,881,025 (GRCm39) |
|
probably benign |
Het |
Fam131c |
T |
C |
4: 141,107,648 (GRCm39) |
C53R |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,463,539 (GRCm39) |
F1360L |
probably damaging |
Het |
Gm10320 |
G |
T |
13: 98,626,045 (GRCm39) |
S113* |
probably null |
Het |
Ifih1 |
T |
C |
2: 62,447,657 (GRCm39) |
D349G |
probably damaging |
Het |
Il12a |
T |
C |
3: 68,599,495 (GRCm39) |
|
probably benign |
Het |
Ivl |
A |
T |
3: 92,478,940 (GRCm39) |
M375K |
possibly damaging |
Het |
Krt82 |
C |
A |
15: 101,451,887 (GRCm39) |
|
probably benign |
Het |
Mc4r |
C |
T |
18: 66,992,226 (GRCm39) |
V296I |
probably benign |
Het |
Met |
T |
A |
6: 17,534,230 (GRCm39) |
I691N |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,425,937 (GRCm39) |
I2396K |
probably damaging |
Het |
Napg |
C |
A |
18: 63,119,516 (GRCm39) |
Q135K |
probably benign |
Het |
Nf2 |
A |
T |
11: 4,739,655 (GRCm39) |
|
probably null |
Het |
Nrxn1 |
G |
T |
17: 90,950,531 (GRCm39) |
H549Q |
probably damaging |
Het |
P4ha1 |
T |
A |
10: 59,197,736 (GRCm39) |
I321K |
probably damaging |
Het |
Prl5a1 |
T |
C |
13: 28,332,683 (GRCm39) |
S94P |
probably benign |
Het |
Prnp |
T |
C |
2: 131,778,990 (GRCm39) |
V214A |
probably benign |
Het |
Ptprc |
A |
T |
1: 137,993,936 (GRCm39) |
F1165I |
probably damaging |
Het |
Rdh10 |
T |
C |
1: 16,198,483 (GRCm39) |
V207A |
possibly damaging |
Het |
Rel |
A |
T |
11: 23,703,218 (GRCm39) |
N131K |
probably benign |
Het |
Rgs14 |
A |
T |
13: 55,531,338 (GRCm39) |
D448V |
probably benign |
Het |
Spag5 |
T |
G |
11: 78,195,085 (GRCm39) |
S131A |
probably benign |
Het |
Styxl1 |
C |
T |
5: 135,794,604 (GRCm39) |
D88N |
probably damaging |
Het |
Tlr3 |
C |
T |
8: 45,851,376 (GRCm39) |
R507H |
probably benign |
Het |
Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,107,591 (GRCm39) |
V567A |
probably damaging |
Het |
Vmn1r8 |
T |
C |
6: 57,013,653 (GRCm39) |
S235P |
possibly damaging |
Het |
Vmn2r51 |
T |
A |
7: 9,839,409 (GRCm39) |
N60Y |
probably damaging |
Het |
Wbp1l |
T |
A |
19: 46,640,922 (GRCm39) |
L68Q |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,071,947 (GRCm39) |
V981E |
probably benign |
Het |
Zdhhc13 |
T |
C |
7: 48,458,613 (GRCm39) |
S316P |
probably damaging |
Het |
Zfp516 |
C |
T |
18: 83,005,486 (GRCm39) |
R797C |
probably benign |
Het |
Zp3r |
A |
G |
1: 130,526,657 (GRCm39) |
V182A |
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 |
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 |
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 |
2014-02-04 |