Incidental Mutation 'R6663:Tbccd1'
| ID |
526891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbccd1
|
| Ensembl Gene |
ENSMUSG00000004462 |
| Gene Name |
TBCC domain containing 1 |
| Synonyms |
5730478M09Rik |
| MMRRC Submission |
044783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
22631964-22676419 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AT to ATGT
at 22652778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004576]
[ENSMUST00000232075]
[ENSMUST00000232251]
[ENSMUST00000232345]
|
| AlphaFold |
Q640P7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004576
|
| SMART Domains |
Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462
| 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 |
noncoding transcript
Transcript: ENSMUST00000231267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232009
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232075
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232251
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232681
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
| Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
possibly 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 |
|
R6554:Tbccd1
|
UTSW |
16 |
22,640,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AAGACTCATTGTGTTTGACAGGTTG -3'
(R):5'- TGGTTTCCAGAAGTGACTCCAG -3'
Sequencing Primer
(F):5'- AGCATGCTCTACAATGCCTGG -3'
(R):5'- CCAGAAGTGACTCCAGTTATGTAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation