Incidental Mutation 'R4201:Tbccd1'
| ID |
318770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbccd1
|
| Ensembl Gene |
ENSMUSG00000004462 |
| Gene Name |
TBCC domain containing 1 |
| Synonyms |
5730478M09Rik |
| MMRRC Submission |
041031-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22631964-22676419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22644698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 226
(V226A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004576]
[ENSMUST00000232075]
[ENSMUST00000232251]
[ENSMUST00000232345]
|
| AlphaFold |
Q640P7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004576
AA Change: V226A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462
AA Change: V226A
| 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 |
possibly damaging
Transcript: ENSMUST00000232075
AA Change: V226A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232251
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232345
AA Change: V226A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232681
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,623,952 (GRCm39) |
|
probably null |
Het |
| Als2 |
A |
T |
1: 59,219,313 (GRCm39) |
D1212E |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,495,530 (GRCm39) |
S1167P |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,494,295 (GRCm39) |
V66A |
possibly damaging |
Het |
| Bag3 |
C |
A |
7: 128,147,881 (GRCm39) |
L499I |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,310,981 (GRCm39) |
D751G |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,359,587 (GRCm39) |
Y145C |
probably benign |
Het |
| Ccdc172 |
G |
A |
19: 58,525,017 (GRCm39) |
R158H |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cd9 |
T |
C |
6: 125,439,357 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,834 (GRCm39) |
I1493V |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,359 (GRCm39) |
D57G |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,972,238 (GRCm39) |
R1201W |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 30,984,227 (GRCm39) |
V3976A |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,394 (GRCm39) |
D3317G |
possibly damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,512,337 (GRCm39) |
E353* |
probably null |
Het |
| Gch1 |
T |
C |
14: 47,393,260 (GRCm39) |
S241G |
probably benign |
Het |
| Gpr22 |
A |
T |
12: 31,758,912 (GRCm39) |
Y366* |
probably null |
Het |
| Gse1 |
A |
T |
8: 121,294,503 (GRCm39) |
M277L |
probably benign |
Het |
| Kcnt2 |
G |
A |
1: 140,353,070 (GRCm39) |
V260I |
probably damaging |
Het |
| Nbas |
G |
T |
12: 13,424,827 (GRCm39) |
C1022F |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,497 (GRCm39) |
L274H |
probably damaging |
Het |
| Parp4 |
C |
A |
14: 56,829,848 (GRCm39) |
T274K |
possibly damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,362 (GRCm39) |
S230G |
probably damaging |
Het |
| Plin4 |
T |
G |
17: 56,411,338 (GRCm39) |
T898P |
probably damaging |
Het |
| Ptprj |
A |
C |
2: 90,293,439 (GRCm39) |
V548G |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,048,791 (GRCm39) |
I139M |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,297,870 (GRCm39) |
D1142E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmed7 |
A |
G |
18: 46,726,314 (GRCm39) |
|
probably null |
Het |
| Tnfrsf23 |
A |
T |
7: 143,223,791 (GRCm39) |
C137S |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
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 |
|
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 |
|
R6554:Tbccd1
|
UTSW |
16 |
22,640,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CAAGCCAATTTCTTTCCAGACTTG -3'
(R):5'- GGACACCTTTGTTCAGTTGAG -3'
Sequencing Primer
(F):5'- TTTCCAGACTTGAGGCAAGC -3'
(R):5'- AGTCACCAGGCTTTTGTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation