Incidental Mutation 'R6554:Tbccd1'
ID |
521873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbccd1
|
Ensembl Gene |
ENSMUSG00000004462 |
Gene Name |
TBCC domain containing 1 |
Synonyms |
5730478M09Rik |
MMRRC Submission |
044679-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6554 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22631964-22676419 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 22640874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 501
(I501K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004576]
[ENSMUST00000232075]
[ENSMUST00000232251]
[ENSMUST00000232345]
|
AlphaFold |
Q640P7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004576
AA Change: I501K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000004576 Gene: ENSMUSG00000004462 AA Change: I501K
Domain | Start | End | E-Value | Type |
low complexity region
|
118 |
129 |
N/A |
INTRINSIC |
low complexity region
|
144 |
160 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
CARP
|
337 |
374 |
5.55e-5 |
SMART |
CARP
|
375 |
409 |
8.75e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231229
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232075
AA Change: I501K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232251
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232345
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232681
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,618,246 (GRCm39) |
R180C |
probably damaging |
Het |
B3galt9 |
C |
A |
2: 34,729,276 (GRCm39) |
S358R |
probably benign |
Het |
Ces1b |
C |
A |
8: 93,791,619 (GRCm39) |
V327L |
probably benign |
Het |
Cps1 |
C |
T |
1: 67,213,628 (GRCm39) |
R787* |
probably null |
Het |
Dmrt2 |
C |
T |
19: 25,655,312 (GRCm39) |
P304S |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,557,346 (GRCm39) |
D429G |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,616,282 (GRCm39) |
M3111K |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,037,699 (GRCm39) |
V3393A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,517,063 (GRCm39) |
D1007G |
possibly damaging |
Het |
Flt3 |
A |
C |
5: 147,312,545 (GRCm39) |
L132W |
probably damaging |
Het |
Gm14322 |
G |
A |
2: 177,410,220 (GRCm39) |
S60N |
possibly damaging |
Het |
Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
Kcnj16 |
T |
A |
11: 110,916,131 (GRCm39) |
Y264* |
probably null |
Het |
Klkb1 |
T |
A |
8: 45,726,591 (GRCm39) |
I471F |
probably damaging |
Het |
Lrfn4 |
T |
C |
19: 4,663,914 (GRCm39) |
T207A |
probably damaging |
Het |
Mfsd4b5 |
T |
A |
10: 39,862,428 (GRCm39) |
T32S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,430,645 (GRCm39) |
D234G |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,454,279 (GRCm39) |
T218A |
possibly damaging |
Het |
Nsd3 |
A |
T |
8: 26,152,891 (GRCm39) |
E410D |
probably damaging |
Het |
Or4g17 |
C |
T |
2: 111,209,504 (GRCm39) |
S53F |
possibly damaging |
Het |
Or5aq7 |
A |
T |
2: 86,937,970 (GRCm39) |
S254T |
probably benign |
Het |
Reln |
T |
C |
5: 22,101,838 (GRCm39) |
Y3364C |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Serpina1d |
A |
T |
12: 103,731,062 (GRCm39) |
H305Q |
probably benign |
Het |
Skic8 |
A |
T |
9: 54,634,929 (GRCm39) |
I88N |
probably damaging |
Het |
Skint8 |
G |
A |
4: 111,784,413 (GRCm39) |
C13Y |
probably benign |
Het |
Smc4 |
G |
A |
3: 68,936,848 (GRCm39) |
V863I |
probably benign |
Het |
Spdl1 |
T |
G |
11: 34,713,397 (GRCm39) |
N224T |
possibly damaging |
Het |
Sprr1b |
T |
G |
3: 92,344,420 (GRCm39) |
Q152P |
possibly damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,405 (GRCm39) |
N192S |
probably benign |
Het |
Tbc1d8 |
T |
C |
1: 39,445,903 (GRCm39) |
N96S |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Unk |
T |
C |
11: 115,942,285 (GRCm39) |
I293T |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,926,139 (GRCm39) |
E548G |
probably damaging |
Het |
Wdr97 |
A |
G |
15: 76,239,178 (GRCm39) |
D85G |
possibly damaging |
Het |
Zeb2 |
A |
T |
2: 44,887,524 (GRCm39) |
V496E |
probably damaging |
Het |
|
Other mutations in Tbccd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00594:Tbccd1
|
APN |
16 |
22,641,294 (GRCm39) |
missense |
possibly damaging |
0.81 |
PIT4243001:Tbccd1
|
UTSW |
16 |
22,641,087 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4402001:Tbccd1
|
UTSW |
16 |
22,640,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Tbccd1
|
UTSW |
16 |
22,660,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Tbccd1
|
UTSW |
16 |
22,644,844 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0894:Tbccd1
|
UTSW |
16 |
22,640,995 (GRCm39) |
missense |
probably benign |
0.27 |
R1183:Tbccd1
|
UTSW |
16 |
22,660,519 (GRCm39) |
missense |
probably benign |
0.01 |
R1795:Tbccd1
|
UTSW |
16 |
22,640,995 (GRCm39) |
missense |
probably benign |
0.27 |
R1813:Tbccd1
|
UTSW |
16 |
22,641,271 (GRCm39) |
missense |
probably benign |
|
R2049:Tbccd1
|
UTSW |
16 |
22,637,291 (GRCm39) |
splice site |
probably null |
|
R2131:Tbccd1
|
UTSW |
16 |
22,660,739 (GRCm39) |
missense |
probably benign |
0.00 |
R3964:Tbccd1
|
UTSW |
16 |
22,660,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R4201:Tbccd1
|
UTSW |
16 |
22,644,698 (GRCm39) |
missense |
probably damaging |
0.96 |
R4602:Tbccd1
|
UTSW |
16 |
22,637,285 (GRCm39) |
splice site |
probably null |
|
R4921:Tbccd1
|
UTSW |
16 |
22,660,649 (GRCm39) |
missense |
probably benign |
0.02 |
R6493:Tbccd1
|
UTSW |
16 |
22,641,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6663:Tbccd1
|
UTSW |
16 |
22,652,778 (GRCm39) |
frame shift |
probably null |
|
R7220:Tbccd1
|
UTSW |
16 |
22,652,747 (GRCm39) |
missense |
probably benign |
0.21 |
R7431:Tbccd1
|
UTSW |
16 |
22,644,563 (GRCm39) |
missense |
probably benign |
0.03 |
R8090:Tbccd1
|
UTSW |
16 |
22,660,805 (GRCm39) |
missense |
probably benign |
0.00 |
R8186:Tbccd1
|
UTSW |
16 |
22,637,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R8315:Tbccd1
|
UTSW |
16 |
22,641,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R8545:Tbccd1
|
UTSW |
16 |
22,652,779 (GRCm39) |
missense |
probably benign |
0.09 |
R8688:Tbccd1
|
UTSW |
16 |
22,641,208 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9522:Tbccd1
|
UTSW |
16 |
22,641,249 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9775:Tbccd1
|
UTSW |
16 |
22,652,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCATCTTCTAGCCACACAGC -3'
(R):5'- AGTGCCTAACTATTGGGATAACCC -3'
Sequencing Primer
(F):5'- TCTAGAATGCTAACCTGGGACTC -3'
(R):5'- CCCGATGGTGGTGTGCAAAG -3'
|
Posted On |
2018-06-06 |