Incidental Mutation 'R0800:Txlnb'
| ID |
76238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txlnb
|
| Ensembl Gene |
ENSMUSG00000039891 |
| Gene Name |
taxilin beta |
| Synonyms |
Mdp77, 2310001N14Rik |
| MMRRC Submission |
038980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
17671974-17721413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17675240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 131
(N131S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037964]
|
| AlphaFold |
Q8VBT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037964
AA Change: N131S
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: N131S
| 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 |
0.0742 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B230217C12Rik |
T |
C |
11: 97,732,086 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,317,265 (GRCm39) |
D1498G |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,440,614 (GRCm39) |
Y158C |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,984,662 (GRCm39) |
T1033A |
probably benign |
Het |
| Cst13 |
A |
T |
2: 148,672,247 (GRCm39) |
I141F |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,604,855 (GRCm39) |
L1301P |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,923,636 (GRCm39) |
F1201L |
probably benign |
Het |
| Dok7 |
T |
C |
5: 35,232,633 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,774,171 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,699,877 (GRCm39) |
V1753A |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,887,583 (GRCm39) |
F538L |
possibly damaging |
Het |
| Fmo2 |
C |
T |
1: 162,704,383 (GRCm39) |
D508N |
probably benign |
Het |
| Gabpb1 |
A |
T |
2: 126,472,248 (GRCm39) |
Y351N |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,312,428 (GRCm39) |
V230E |
probably damaging |
Het |
| Gprc5c |
A |
C |
11: 114,757,537 (GRCm39) |
K48Q |
probably damaging |
Het |
| Gzmd |
A |
G |
14: 56,369,948 (GRCm39) |
L11P |
unknown |
Het |
| Hbq1b |
A |
C |
11: 32,237,581 (GRCm39) |
H123P |
probably damaging |
Het |
| Hibadh |
T |
A |
6: 52,533,490 (GRCm39) |
I209F |
probably damaging |
Het |
| Il17f |
G |
T |
1: 20,848,177 (GRCm39) |
C100* |
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Itga8 |
A |
T |
2: 12,198,362 (GRCm39) |
V541E |
possibly damaging |
Het |
| Kifc5b |
T |
A |
17: 27,142,158 (GRCm39) |
V212D |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,207,137 (GRCm39) |
Y157* |
probably null |
Het |
| Kprp |
T |
C |
3: 92,732,342 (GRCm39) |
Y236C |
unknown |
Het |
| Mmp12 |
A |
T |
9: 7,357,827 (GRCm39) |
M414L |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,190,735 (GRCm39) |
|
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,716,823 (GRCm39) |
F573L |
possibly damaging |
Het |
| Or10j7 |
C |
T |
1: 173,011,627 (GRCm39) |
A125T |
probably damaging |
Het |
| Or4c124 |
A |
G |
2: 89,156,008 (GRCm39) |
V172A |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,709,650 (GRCm39) |
D198E |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,305,615 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,827,408 (GRCm39) |
T181A |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,646,486 (GRCm39) |
|
probably benign |
Het |
| Pla2g12b |
A |
G |
10: 59,239,642 (GRCm39) |
N17S |
probably benign |
Het |
| Polr3c |
C |
A |
3: 96,626,627 (GRCm39) |
V266L |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,527 (GRCm39) |
T408A |
probably damaging |
Het |
| Pskh1 |
A |
G |
8: 106,640,238 (GRCm39) |
Y306C |
probably damaging |
Het |
| Rom1 |
T |
A |
19: 8,906,272 (GRCm39) |
D89V |
probably damaging |
Het |
| Sell |
T |
A |
1: 163,893,770 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
G |
7: 115,178,249 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,400,133 (GRCm39) |
S2527P |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,981 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
A |
G |
4: 45,882,797 (GRCm39) |
T503A |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,145,227 (GRCm39) |
T375A |
probably benign |
Het |
| Tgm6 |
G |
A |
2: 129,985,342 (GRCm39) |
V382M |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 72,824,981 (GRCm39) |
|
probably benign |
Het |
| Usp19 |
A |
G |
9: 108,372,353 (GRCm39) |
E469G |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,192 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,402,838 (GRCm39) |
T637A |
probably benign |
Het |
| Zhx2 |
A |
C |
15: 57,686,124 (GRCm39) |
I498L |
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 |
|
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 |
|
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'- ATCATAAGCACGTATGGGTCTGCTG -3'
(R):5'- TTGAGCCTGTCAGGGTTAGACCAC -3'
Sequencing Primer
(F):5'- ATGGGTCTGCTGCCAGTC -3'
(R):5'- ggaggaaggagagagcgag -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation