Incidental Mutation 'R6212:Txlnb'
ID |
503516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Txlnb
|
Ensembl Gene |
ENSMUSG00000039891 |
Gene Name |
taxilin beta |
Synonyms |
Mdp77, 2310001N14Rik |
MMRRC Submission |
044345-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R6212 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17675057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 70
(I70T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
AlphaFold |
Q8VBT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037964
AA Change: I70T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044936 Gene: ENSMUSG00000039891 AA Change: I70T
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181428
|
Meta Mutation Damage Score |
0.2150 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
A |
7: 119,172,505 (GRCm39) |
I116N |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
Ap3b1 |
C |
A |
13: 94,630,207 (GRCm39) |
H821N |
unknown |
Het |
Apex1 |
C |
T |
14: 51,164,350 (GRCm39) |
P264S |
probably benign |
Het |
Arhgap27 |
T |
C |
11: 103,251,698 (GRCm39) |
Y10C |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,359,278 (GRCm39) |
T208A |
probably benign |
Het |
Brd4 |
G |
T |
17: 32,421,423 (GRCm39) |
P771Q |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,307,667 (GRCm39) |
S69G |
probably benign |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
T |
C |
15: 85,800,888 (GRCm39) |
H2519R |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,439,155 (GRCm39) |
N48I |
probably damaging |
Het |
Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,353,255 (GRCm39) |
P2803S |
probably damaging |
Het |
Dusp26 |
G |
A |
8: 31,584,252 (GRCm39) |
D120N |
probably damaging |
Het |
Epha6 |
T |
C |
16: 60,245,719 (GRCm39) |
H160R |
possibly damaging |
Het |
Erg |
C |
T |
16: 95,180,022 (GRCm39) |
V215I |
probably damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Gabbr2 |
T |
C |
4: 46,681,189 (GRCm39) |
D124G |
probably damaging |
Het |
Gapdh |
T |
C |
6: 125,139,661 (GRCm39) |
H203R |
probably damaging |
Het |
Garin1b |
T |
C |
6: 29,319,373 (GRCm39) |
L59P |
probably damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,727,503 (GRCm39) |
M42V |
possibly damaging |
Het |
Hk2 |
C |
A |
6: 82,705,823 (GRCm39) |
A827S |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,179,694 (GRCm39) |
E227G |
probably damaging |
Het |
Itgax |
C |
A |
7: 127,729,504 (GRCm39) |
H31N |
possibly damaging |
Het |
Itgax |
A |
G |
7: 127,747,025 (GRCm39) |
D942G |
probably benign |
Het |
Kars1 |
A |
T |
8: 112,726,829 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
C |
18: 12,646,702 (GRCm39) |
F1739L |
probably damaging |
Het |
Map2k1 |
A |
T |
9: 64,112,445 (GRCm39) |
L155Q |
probably damaging |
Het |
Mcf2l |
A |
T |
8: 13,067,431 (GRCm39) |
D1013V |
probably damaging |
Het |
Mocs1 |
G |
A |
17: 49,742,224 (GRCm39) |
G118S |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,229,650 (GRCm39) |
S37P |
probably damaging |
Het |
Nfxl1 |
A |
G |
5: 72,673,553 (GRCm39) |
|
probably null |
Het |
Nodal |
C |
T |
10: 61,259,300 (GRCm39) |
H246Y |
possibly damaging |
Het |
Nwd1 |
G |
A |
8: 73,421,950 (GRCm39) |
V999M |
possibly damaging |
Het |
Oaz3 |
T |
A |
3: 94,342,375 (GRCm39) |
T139S |
probably benign |
Het |
Or6z6 |
T |
C |
7: 6,491,367 (GRCm39) |
|
probably null |
Het |
Or7e165 |
A |
G |
9: 19,694,585 (GRCm39) |
D52G |
probably damaging |
Het |
P3h3 |
T |
A |
6: 124,822,606 (GRCm39) |
T522S |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,554,052 (GRCm39) |
F457S |
probably damaging |
Het |
Prkce |
T |
C |
17: 86,866,729 (GRCm39) |
Y530H |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,270,070 (GRCm39) |
C31S |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,025,220 (GRCm39) |
N24Y |
probably damaging |
Het |
Slc4a8 |
T |
C |
15: 100,709,452 (GRCm39) |
V937A |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,734,830 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,148,861 (GRCm39) |
N2027K |
probably damaging |
Het |
Stra6l |
T |
C |
4: 45,884,664 (GRCm39) |
Y565H |
probably benign |
Het |
Tmem262 |
A |
G |
19: 6,130,668 (GRCm39) |
E62G |
possibly damaging |
Het |
Tnrc6a |
T |
A |
7: 122,742,965 (GRCm39) |
|
probably null |
Het |
Whrn |
A |
T |
4: 63,412,923 (GRCm39) |
L25* |
probably null |
Het |
Zfp326 |
T |
A |
5: 106,058,097 (GRCm39) |
V412E |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,487,661 (GRCm39) |
R779G |
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 |
|
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 |
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'- ATGGAGATTAATCATCCTGATCAGC -3'
(R):5'- TGCTCTTTATTGCTGACAGGC -3'
Sequencing Primer
(F):5'- ATCCTGATCAGCTCTCAGTGGAG -3'
(R):5'- GCTGACAGGCTCTTTGGC -3'
|
Posted On |
2018-02-27 |