Incidental Mutation 'R4484:Txlnb'
| ID |
377771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txlnb
|
| Ensembl Gene |
ENSMUSG00000039891 |
| Gene Name |
taxilin beta |
| Synonyms |
Mdp77, 2310001N14Rik |
| MMRRC Submission |
041740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4484 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to TTA
at 17714745 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,301,730 (GRCm39) |
C1101R |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,357,016 (GRCm39) |
I588T |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd164l2 |
T |
A |
4: 132,950,986 (GRCm39) |
V147E |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,723,262 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,836,482 (GRCm39) |
T894A |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,239,696 (GRCm39) |
D552G |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,733 (GRCm39) |
N593I |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,083 (GRCm39) |
E142G |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Gm44501 |
T |
A |
17: 40,887,507 (GRCm39) |
F8L |
unknown |
Het |
| Gpr179 |
T |
C |
11: 97,226,537 (GRCm39) |
S1873G |
probably benign |
Het |
| Gprin2 |
C |
A |
14: 33,916,754 (GRCm39) |
A339S |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,649,038 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,208 (GRCm39) |
R91* |
probably null |
Het |
| Igtp |
G |
A |
11: 58,097,824 (GRCm39) |
V332I |
possibly damaging |
Het |
| Itfg1 |
G |
A |
8: 86,452,878 (GRCm39) |
P497S |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,517 (GRCm39) |
N181S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,614,145 (GRCm39) |
Y1305H |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,616,503 (GRCm39) |
N44I |
probably damaging |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Mkks |
T |
C |
2: 136,722,494 (GRCm39) |
E221G |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,970,379 (GRCm39) |
V374A |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,422,187 (GRCm39) |
C4441F |
possibly damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,710 (GRCm39) |
Q395* |
probably null |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Ntng1 |
C |
A |
3: 110,051,124 (GRCm39) |
|
probably benign |
Het |
| Padi1 |
G |
T |
4: 140,544,581 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
T |
C |
1: 167,452,596 (GRCm39) |
S133P |
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,339,192 (GRCm39) |
I110T |
probably benign |
Het |
| Strap |
T |
C |
6: 137,726,334 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,631,831 (GRCm39) |
D890G |
probably benign |
Het |
| Tgtp2 |
A |
T |
11: 48,950,179 (GRCm39) |
M131K |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,868 (GRCm39) |
F82L |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,863,126 (GRCm39) |
K397E |
possibly damaging |
Het |
| Usp36 |
T |
A |
11: 118,176,621 (GRCm39) |
R66W |
probably damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,980,174 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r61 |
G |
A |
7: 41,950,120 (GRCm39) |
D847N |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,987,137 (GRCm39) |
|
probably null |
Het |
| Zfp963 |
T |
C |
8: 70,197,135 (GRCm39) |
I36V |
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,107,351 (GRCm39) |
Y428H |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGACCTGGTAGTATATAAAATAGC -3'
(R):5'- CCTAGTATTTTGAGGCCATTGATC -3'
Sequencing Primer
(F):5'- CTCAAATAATGAACAGTGACTTGGG -3'
(R):5'- GGCCATTGATCAGATCTATTTACTGG -3'
|
| Posted On |
2016-04-04 |
Incidental Mutation