Incidental Mutation 'R7608:Txlnb'
ID |
588447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Txlnb
|
Ensembl Gene |
ENSMUSG00000039891 |
Gene Name |
taxilin beta |
Synonyms |
Mdp77, 2310001N14Rik |
MMRRC Submission |
045678-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R7608 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17691146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 232
(K232R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
AlphaFold |
Q8VBT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037964
AA Change: K232R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044936 Gene: ENSMUSG00000039891 AA Change: K232R
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 |
0.1871 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
G |
1: 75,154,347 (GRCm39) |
F311S |
probably benign |
Het |
Adamts7 |
C |
A |
9: 90,055,826 (GRCm39) |
T193N |
possibly damaging |
Het |
Akr1b7 |
A |
G |
6: 34,397,457 (GRCm39) |
N273S |
probably damaging |
Het |
Asz1 |
G |
A |
6: 18,077,252 (GRCm39) |
T151M |
probably damaging |
Het |
Atosb |
A |
G |
4: 43,036,533 (GRCm39) |
L66P |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,703,119 (GRCm39) |
Y1046N |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,564,022 (GRCm39) |
S902P |
probably damaging |
Het |
Casp3 |
T |
A |
8: 47,087,368 (GRCm39) |
I105K |
probably benign |
Het |
Ccdc146 |
C |
T |
5: 21,506,450 (GRCm39) |
V664I |
probably benign |
Het |
Cfap61 |
G |
A |
2: 145,805,451 (GRCm39) |
C267Y |
possibly damaging |
Het |
Dgkz |
A |
T |
2: 91,764,399 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
T |
12: 118,104,505 (GRCm39) |
|
probably null |
Het |
Duox1 |
C |
A |
2: 122,156,616 (GRCm39) |
Y514* |
probably null |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Fan1 |
A |
T |
7: 64,003,979 (GRCm39) |
|
probably null |
Het |
Fgfrl1 |
A |
T |
5: 108,853,211 (GRCm39) |
K278M |
probably damaging |
Het |
Fign |
T |
C |
2: 63,809,063 (GRCm39) |
I736V |
possibly damaging |
Het |
Galns |
A |
G |
8: 123,318,184 (GRCm39) |
F410S |
probably benign |
Het |
Hspbp1 |
C |
A |
7: 4,663,821 (GRCm39) |
K341N |
possibly damaging |
Het |
Idh3b |
A |
T |
2: 130,122,900 (GRCm39) |
S296R |
probably damaging |
Het |
Ifi44 |
A |
G |
3: 151,438,045 (GRCm39) |
F414S |
probably damaging |
Het |
Kdm3a |
T |
A |
6: 71,577,731 (GRCm39) |
M690L |
probably benign |
Het |
Ldaf1 |
A |
G |
7: 119,704,011 (GRCm39) |
K19E |
probably damaging |
Het |
Lrrc49 |
C |
T |
9: 60,510,005 (GRCm39) |
G488S |
probably null |
Het |
Mcc |
T |
C |
18: 44,624,294 (GRCm39) |
N417S |
possibly damaging |
Het |
Melk |
T |
A |
4: 44,325,571 (GRCm39) |
|
probably null |
Het |
Mtcl1 |
T |
C |
17: 66,650,300 (GRCm39) |
R1722G |
probably damaging |
Het |
Or4a79 |
A |
G |
2: 89,551,642 (GRCm39) |
V271A |
probably benign |
Het |
Or51f23c-ps1 |
A |
G |
7: 102,431,132 (GRCm39) |
I150V |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,806 (GRCm39) |
V132D |
possibly damaging |
Het |
Pdzrn3 |
T |
C |
6: 101,128,713 (GRCm39) |
E651G |
probably damaging |
Het |
Pop5 |
A |
G |
5: 115,375,931 (GRCm39) |
|
probably benign |
Het |
Prox1 |
T |
A |
1: 189,885,642 (GRCm39) |
M602L |
probably benign |
Het |
Prpf39 |
G |
A |
12: 65,100,220 (GRCm39) |
A298T |
probably benign |
Het |
Scg2 |
T |
C |
1: 79,413,898 (GRCm39) |
E275G |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,644,379 (GRCm39) |
|
probably null |
Het |
Slc16a4 |
A |
T |
3: 107,210,443 (GRCm39) |
Y371F |
probably damaging |
Het |
Slc4a1ap |
T |
A |
5: 31,693,533 (GRCm39) |
M489K |
possibly damaging |
Het |
Spata13 |
A |
G |
14: 60,929,956 (GRCm39) |
N505D |
possibly damaging |
Het |
Tas2r129 |
A |
G |
6: 132,928,156 (GRCm39) |
N31S |
probably damaging |
Het |
Tnn |
A |
T |
1: 159,915,984 (GRCm39) |
Y1508* |
probably null |
Het |
Trim23 |
T |
C |
13: 104,328,541 (GRCm39) |
V354A |
probably benign |
Het |
Tsc1 |
A |
T |
2: 28,548,748 (GRCm39) |
T18S |
probably benign |
Het |
Vmn1r53 |
C |
T |
6: 90,201,104 (GRCm39) |
M73I |
probably benign |
Het |
Vmn1r67 |
G |
A |
7: 10,181,290 (GRCm39) |
V185M |
possibly damaging |
Het |
Vmn2r14 |
A |
G |
5: 109,369,276 (GRCm39) |
I99T |
probably benign |
Het |
Zfp318 |
T |
G |
17: 46,710,935 (GRCm39) |
V886G |
probably damaging |
Het |
Zfp760 |
A |
G |
17: 21,941,797 (GRCm39) |
N324S |
probably benign |
Het |
Zfp819 |
T |
C |
7: 43,266,357 (GRCm39) |
V280A |
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 |
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 |
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'- GCCAAATTCCCTGCTGCTTG -3'
(R):5'- CCTTCCGAGCATAGTCAGAAG -3'
Sequencing Primer
(F):5'- GTACCCCCACATCTAGCTGGATG -3'
(R):5'- CTTCCGAGCATAGTCAGAAGATGGG -3'
|
Posted On |
2019-10-24 |