Incidental Mutation 'R1340:Txlnb'
ID |
157007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Txlnb
|
Ensembl Gene |
ENSMUSG00000039891 |
Gene Name |
taxilin beta |
Synonyms |
Mdp77, 2310001N14Rik |
MMRRC Submission |
039405-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R1340 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17718488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 440
(I440F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
AlphaFold |
Q8VBT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037964
AA Change: I440F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044936 Gene: ENSMUSG00000039891 AA Change: I440F
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 |
0.4474 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,628,581 (GRCm39) |
|
probably benign |
Het |
Acat3 |
C |
T |
17: 13,148,564 (GRCm39) |
|
probably benign |
Het |
Actn1 |
T |
C |
12: 80,219,918 (GRCm39) |
|
probably null |
Het |
Adam8 |
G |
A |
7: 139,571,290 (GRCm39) |
S38F |
probably damaging |
Het |
Aldh9a1 |
T |
G |
1: 167,184,913 (GRCm39) |
I275S |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,113,695 (GRCm39) |
N1289S |
probably benign |
Het |
Cacna1d |
A |
G |
14: 29,794,024 (GRCm39) |
V1539A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,348,403 (GRCm39) |
L724P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,395,218 (GRCm39) |
T370A |
probably benign |
Het |
Ccdc9 |
G |
A |
7: 16,009,315 (GRCm39) |
|
probably benign |
Het |
Cep120 |
A |
T |
18: 53,857,463 (GRCm39) |
V334E |
probably damaging |
Het |
Ces3a |
C |
T |
8: 105,784,545 (GRCm39) |
P462L |
probably damaging |
Het |
Cgref1 |
A |
G |
5: 31,102,690 (GRCm39) |
|
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Csrnp3 |
T |
A |
2: 65,832,740 (GRCm39) |
F81Y |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,653 (GRCm39) |
T316A |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Epb41l5 |
A |
T |
1: 119,476,861 (GRCm39) |
*740R |
probably null |
Het |
Gfpt2 |
A |
G |
11: 49,723,688 (GRCm39) |
K559E |
probably damaging |
Het |
Gm2381 |
A |
G |
7: 42,469,828 (GRCm39) |
Y99H |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,475 (GRCm39) |
V242A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
Lrriq4 |
A |
C |
3: 30,704,472 (GRCm39) |
T167P |
possibly damaging |
Het |
Mtarc2 |
T |
C |
1: 184,554,744 (GRCm39) |
T254A |
probably benign |
Het |
Naip2 |
G |
A |
13: 100,325,630 (GRCm39) |
L93F |
possibly damaging |
Het |
Nefh |
G |
GNNNNNNNNNNNNNNNNNN |
11: 4,891,002 (GRCm39) |
|
probably benign |
Het |
Nrp1 |
T |
C |
8: 129,160,836 (GRCm39) |
S321P |
probably damaging |
Het |
Nt5c1b |
T |
C |
12: 10,427,276 (GRCm39) |
V342A |
probably damaging |
Het |
Nt5c3 |
A |
G |
6: 56,860,018 (GRCm39) |
M273T |
probably benign |
Het |
Or12j2 |
A |
G |
7: 139,916,038 (GRCm39) |
T88A |
probably benign |
Het |
Or1l4b |
T |
G |
2: 37,036,769 (GRCm39) |
L182V |
probably benign |
Het |
Or6b1 |
G |
A |
6: 42,814,943 (GRCm39) |
V43M |
probably benign |
Het |
Polr3f |
A |
G |
2: 144,380,548 (GRCm39) |
H297R |
probably benign |
Het |
Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,418,079 (GRCm39) |
P142L |
possibly damaging |
Het |
Rps17 |
A |
G |
7: 80,993,481 (GRCm39) |
|
probably null |
Het |
Ryr1 |
A |
G |
7: 28,815,437 (GRCm39) |
S132P |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,441,958 (GRCm39) |
S1335P |
probably damaging |
Het |
Senp6 |
T |
C |
9: 80,029,305 (GRCm39) |
V383A |
possibly damaging |
Het |
Skint7 |
T |
C |
4: 111,837,416 (GRCm39) |
F65L |
probably damaging |
Het |
Slc35f1 |
T |
C |
10: 52,965,550 (GRCm39) |
Y322H |
probably damaging |
Het |
Slc38a4 |
C |
A |
15: 96,908,153 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sox15 |
T |
A |
11: 69,546,373 (GRCm39) |
S59T |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,159,910 (GRCm39) |
|
probably benign |
Het |
Vmn1r178 |
A |
G |
7: 23,593,281 (GRCm39) |
S37G |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 85,797,798 (GRCm39) |
T672A |
probably damaging |
Het |
Wscd1 |
T |
C |
11: 71,659,586 (GRCm39) |
V222A |
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 |
17,717,276 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATCAACACTCATCAGATGGCTGC -3'
(R):5'- TGAAAACTGTTGGCTTCCTCTGCG -3'
Sequencing Primer
(F):5'- GAAGATGTTGCCTATACCCTCCAG -3'
(R):5'- GTCCACCTCTTCATTTTCAGAGAC -3'
|
Posted On |
2014-02-11 |