Incidental Mutation 'R1641:Txlnb'
| ID |
173541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txlnb
|
| Ensembl Gene |
ENSMUSG00000039891 |
| Gene Name |
taxilin beta |
| Synonyms |
Mdp77, 2310001N14Rik |
| MMRRC Submission |
039677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17682521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 148
(A148T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
| AlphaFold |
Q8VBT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037964
AA Change: A148T
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: A148T
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,626 (GRCm39) |
T228S |
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,683,612 (GRCm39) |
P965S |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,618,485 (GRCm39) |
I1768T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,743,234 (GRCm39) |
L1579Q |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,757,034 (GRCm39) |
V684A |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,665 (GRCm39) |
I86F |
probably benign |
Het |
| Capn13 |
A |
T |
17: 73,689,889 (GRCm39) |
S41T |
possibly damaging |
Het |
| Cep192 |
C |
A |
18: 67,980,504 (GRCm39) |
L1422I |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,354,380 (GRCm39) |
F217L |
unknown |
Het |
| Clca3b |
A |
T |
3: 144,529,274 (GRCm39) |
M800K |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,258,443 (GRCm39) |
T2230A |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,388 (GRCm39) |
V1836A |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,377,188 (GRCm39) |
V2023M |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,486 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ddx52 |
T |
C |
11: 83,834,269 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
A |
C |
6: 148,969,703 (GRCm39) |
V250G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,023,285 (GRCm39) |
M593K |
probably benign |
Het |
| Il21 |
A |
G |
3: 37,286,681 (GRCm39) |
F12L |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,791,105 (GRCm39) |
N261K |
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,364,562 (GRCm39) |
C151F |
probably damaging |
Het |
| Lsm14a |
C |
A |
7: 34,050,799 (GRCm39) |
R426L |
probably damaging |
Het |
| Maml1 |
G |
A |
11: 50,157,774 (GRCm39) |
P134S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,722,542 (GRCm39) |
C235R |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nsmaf |
T |
C |
4: 6,409,884 (GRCm39) |
E663G |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,005,822 (GRCm39) |
N513S |
probably damaging |
Het |
| Nufip1 |
T |
G |
14: 76,363,692 (GRCm39) |
N305K |
possibly damaging |
Het |
| Or10al5 |
C |
T |
17: 38,062,916 (GRCm39) |
T57I |
possibly damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,918 (GRCm39) |
T7S |
probably benign |
Het |
| Or4c10b |
A |
T |
2: 89,711,745 (GRCm39) |
T192S |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,175 (GRCm39) |
D218V |
probably benign |
Het |
| Or9r3 |
A |
T |
10: 129,947,872 (GRCm39) |
Y262* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,894 (GRCm39) |
V168A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,301,996 (GRCm39) |
V1433A |
probably damaging |
Het |
| Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
| Prr3 |
G |
A |
17: 36,285,484 (GRCm39) |
R86* |
probably null |
Het |
| Ptprz1 |
T |
C |
6: 23,049,605 (GRCm39) |
F1350L |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,552,046 (GRCm39) |
S348P |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,459,960 (GRCm39) |
Q90L |
probably benign |
Het |
| Scel |
T |
C |
14: 103,770,752 (GRCm39) |
L62P |
probably damaging |
Het |
| Serpini1 |
A |
T |
3: 75,521,977 (GRCm39) |
E156V |
possibly damaging |
Het |
| Skint4 |
T |
A |
4: 111,993,240 (GRCm39) |
I321K |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,286,098 (GRCm39) |
D478G |
probably damaging |
Het |
| Sppl2b |
G |
T |
10: 80,700,965 (GRCm39) |
V164F |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,729,470 (GRCm39) |
N527I |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,244,176 (GRCm39) |
D17E |
probably benign |
Het |
| Ubtf |
A |
G |
11: 102,201,757 (GRCm39) |
Y256H |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,868,559 (GRCm39) |
F320S |
possibly damaging |
Het |
| Utp14b |
T |
C |
1: 78,643,656 (GRCm39) |
V518A |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,593,834 (GRCm39) |
V2192A |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,533 (GRCm39) |
M256K |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,515,962 (GRCm39) |
M510L |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,233,547 (GRCm39) |
Q189L |
probably benign |
Het |
| Zfat |
C |
T |
15: 68,051,959 (GRCm39) |
A605T |
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 |
|
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'- ACAAAGAGGGAACTTGCTGAGGCTC -3'
(R):5'- TGCGAACTGTGGGGTGGCATAAAC -3'
Sequencing Primer
(F):5'- CTTGCTGAGGCTCAGGAAG -3'
(R):5'- GGTGGCATAAACTCCACTTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation