Incidental Mutation 'R5291:Txlnb'
ID |
405157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Txlnb
|
Ensembl Gene |
ENSMUSG00000039891 |
Gene Name |
taxilin beta |
Synonyms |
Mdp77, 2310001N14Rik |
MMRRC Submission |
042874-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R5291 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17675144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 99
(D99V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
AlphaFold |
Q8VBT1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037964
AA Change: D99V
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000044936 Gene: ENSMUSG00000039891 AA Change: D99V
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,823,394 (GRCm39) |
S328G |
probably damaging |
Het |
Acot5 |
T |
G |
12: 84,120,293 (GRCm39) |
L216R |
probably benign |
Het |
Ankrd6 |
A |
G |
4: 32,823,446 (GRCm39) |
L192P |
probably damaging |
Het |
Atp6v1e1 |
C |
A |
6: 120,795,294 (GRCm39) |
|
probably null |
Het |
Bbs9 |
T |
C |
9: 22,540,293 (GRCm39) |
Y358H |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Camk2a |
A |
G |
18: 61,090,236 (GRCm39) |
K192R |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,256 (GRCm39) |
R223W |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,703,096 (GRCm39) |
F173I |
probably damaging |
Het |
Cntrl |
A |
C |
2: 35,024,072 (GRCm39) |
I33L |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,800,738 (GRCm39) |
S633P |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,956,566 (GRCm39) |
H181R |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 71,025,205 (GRCm39) |
S542G |
probably benign |
Het |
Dnm2 |
T |
G |
9: 21,390,203 (GRCm39) |
L402R |
probably damaging |
Het |
Fndc3b |
C |
A |
3: 27,697,144 (GRCm39) |
V23L |
probably benign |
Het |
Gata4 |
A |
C |
14: 63,478,048 (GRCm39) |
F184V |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,072,268 (GRCm39) |
R304G |
probably damaging |
Het |
Gm10563 |
TTTC |
TTTCCTTC |
4: 155,698,969 (GRCm39) |
|
probably benign |
Het |
Gm26558 |
G |
A |
2: 70,491,873 (GRCm39) |
|
probably benign |
Het |
Grip1 |
G |
A |
10: 119,922,874 (GRCm39) |
V1107I |
probably benign |
Het |
Herpud2 |
C |
T |
9: 25,036,256 (GRCm39) |
G135S |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,429,747 (GRCm39) |
I441T |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,793,015 (GRCm39) |
D2553G |
probably damaging |
Het |
Mkln1 |
T |
A |
6: 31,467,416 (GRCm39) |
N43K |
possibly damaging |
Het |
Or4c12 |
A |
T |
2: 89,773,780 (GRCm39) |
Y226* |
probably null |
Het |
Or5k17 |
T |
C |
16: 58,746,764 (GRCm39) |
T57A |
possibly damaging |
Het |
Paxbp1 |
C |
T |
16: 90,841,240 (GRCm39) |
M1I |
probably null |
Het |
Phip |
A |
G |
9: 82,827,936 (GRCm39) |
Y97H |
probably damaging |
Het |
Plec |
T |
A |
15: 76,058,211 (GRCm39) |
I3774F |
probably damaging |
Het |
Pramel11 |
G |
T |
4: 143,622,237 (GRCm39) |
P373T |
probably damaging |
Het |
Prrc2c |
C |
A |
1: 162,533,151 (GRCm39) |
|
probably benign |
Het |
Prss12 |
T |
C |
3: 123,299,112 (GRCm39) |
L628P |
probably damaging |
Het |
Ptpre |
G |
A |
7: 135,280,030 (GRCm39) |
V578I |
probably benign |
Het |
Qsox2 |
A |
T |
2: 26,107,710 (GRCm39) |
L261H |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 78,977,366 (GRCm39) |
V1327E |
possibly damaging |
Het |
Rnf216 |
A |
G |
5: 143,075,967 (GRCm39) |
S306P |
probably benign |
Het |
Rtel1 |
A |
G |
2: 180,993,888 (GRCm39) |
Q640R |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,815,023 (GRCm39) |
D175V |
probably benign |
Het |
Scarf1 |
T |
C |
11: 75,414,900 (GRCm39) |
S525P |
probably damaging |
Het |
Senp7 |
T |
A |
16: 56,006,542 (GRCm39) |
Y982* |
probably null |
Het |
Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,223,446 (GRCm39) |
K1375E |
possibly damaging |
Het |
Spats2 |
G |
T |
15: 99,076,422 (GRCm39) |
A167S |
probably benign |
Het |
Spen |
C |
A |
4: 141,215,390 (GRCm39) |
A481S |
unknown |
Het |
Spred3 |
T |
A |
7: 28,867,255 (GRCm39) |
H47L |
probably damaging |
Het |
Srsf4 |
T |
A |
4: 131,613,617 (GRCm39) |
|
probably benign |
Het |
Tdrd3 |
A |
T |
14: 87,743,234 (GRCm39) |
H394L |
probably benign |
Het |
Terf1 |
A |
G |
1: 15,889,310 (GRCm39) |
|
probably null |
Het |
Ugt1a7c |
A |
T |
1: 88,023,231 (GRCm39) |
N130I |
possibly damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,781,752 (GRCm39) |
D331V |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,789,139 (GRCm39) |
I744T |
probably damaging |
Het |
Ythdc1 |
A |
G |
5: 86,983,547 (GRCm39) |
D664G |
probably 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 |
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'- GGGACAGCTCATCACTCAATC -3'
(R):5'- TGCATTGTATAAGGAAATGCCGG -3'
Sequencing Primer
(F):5'- GTGCTCAACCTCAGGCCAAG -3'
(R):5'- CCTTGAACAGGGTTGGGGAC -3'
|
Posted On |
2016-07-22 |