Incidental Mutation 'PIT4243001:Tbccd1'
ID |
554473 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbccd1
|
Ensembl Gene |
ENSMUSG00000004462 |
Gene Name |
TBCC domain containing 1 |
Synonyms |
5730478M09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4243001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
22631964-22676419 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22641087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 430
(M430T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004576]
[ENSMUST00000232075]
[ENSMUST00000232251]
[ENSMUST00000232345]
|
AlphaFold |
Q640P7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004576
AA Change: M430T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004576 Gene: ENSMUSG00000004462 AA Change: M430T
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: M430T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232251
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232345
|
Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 85.2%
- 20x: 74.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,119,999 (GRCm39) |
E252V |
possibly damaging |
Het |
Abhd13 |
T |
C |
8: 10,037,967 (GRCm39) |
F188S |
possibly damaging |
Het |
Abtb1 |
A |
G |
6: 88,815,708 (GRCm39) |
V225A |
probably benign |
Het |
Accs |
A |
G |
2: 93,671,679 (GRCm39) |
M237T |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,236,271 (GRCm39) |
I380T |
probably damaging |
Het |
Add3 |
T |
C |
19: 53,225,121 (GRCm39) |
S414P |
probably benign |
Het |
Ak3 |
C |
T |
19: 29,015,271 (GRCm39) |
|
probably null |
Het |
Atg14 |
T |
C |
14: 47,792,031 (GRCm39) |
E132G |
possibly damaging |
Het |
Bcl2l11 |
A |
G |
2: 127,989,026 (GRCm39) |
E135G |
probably benign |
Het |
Brwd1 |
G |
A |
16: 95,803,871 (GRCm39) |
Q2100* |
probably null |
Het |
Card11 |
A |
C |
5: 140,894,359 (GRCm39) |
V90G |
possibly damaging |
Het |
Celsr3 |
T |
C |
9: 108,709,507 (GRCm39) |
V1451A |
probably benign |
Het |
Clip4 |
T |
C |
17: 72,113,723 (GRCm39) |
I291T |
probably damaging |
Het |
Clk1 |
C |
T |
1: 58,458,836 (GRCm39) |
D179N |
probably damaging |
Het |
Cyp11b2 |
A |
G |
15: 74,723,302 (GRCm39) |
L454P |
probably damaging |
Het |
Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,883,446 (GRCm39) |
S663P |
unknown |
Het |
Erich6 |
G |
A |
3: 58,537,300 (GRCm39) |
T238I |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,279,489 (GRCm39) |
H132Q |
probably benign |
Het |
Hk2 |
A |
G |
6: 82,707,858 (GRCm39) |
C704R |
probably damaging |
Het |
Ift74 |
A |
T |
4: 94,575,141 (GRCm39) |
R531W |
possibly damaging |
Het |
Ism2 |
T |
C |
12: 87,333,832 (GRCm39) |
E71G |
probably benign |
Het |
Lipe |
A |
C |
7: 25,094,971 (GRCm39) |
S22A |
probably benign |
Het |
Myl10 |
A |
G |
5: 136,723,147 (GRCm39) |
D32G |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,693,705 (GRCm39) |
H179R |
probably damaging |
Het |
Or1ad6 |
T |
C |
11: 50,860,379 (GRCm39) |
F178S |
probably damaging |
Het |
Or2n1b |
T |
C |
17: 38,460,394 (GRCm39) |
F305S |
probably benign |
Het |
Pdpn |
T |
A |
4: 142,997,108 (GRCm39) |
T129S |
probably damaging |
Het |
Pold1 |
C |
T |
7: 44,191,582 (GRCm39) |
V135I |
possibly damaging |
Het |
Rasgrp3 |
T |
A |
17: 75,807,134 (GRCm39) |
N199K |
probably damaging |
Het |
Skil |
T |
C |
3: 31,167,714 (GRCm39) |
S449P |
probably damaging |
Het |
Spag16 |
T |
C |
1: 69,892,540 (GRCm39) |
L107P |
probably damaging |
Het |
Tnfaip3 |
G |
A |
10: 18,887,322 (GRCm39) |
L68F |
probably damaging |
Het |
Trrap |
G |
A |
5: 144,733,781 (GRCm39) |
R878H |
probably benign |
Het |
Vasn |
T |
C |
16: 4,467,480 (GRCm39) |
S476P |
probably damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,802,379 (GRCm39) |
M499L |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,638,631 (GRCm39) |
T571A |
probably damaging |
Het |
Zfp608 |
C |
A |
18: 55,031,096 (GRCm39) |
G948V |
probably damaging |
Het |
Zswim5 |
A |
G |
4: 116,841,975 (GRCm39) |
I852V |
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 |
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 |
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'- TCTGCCAGATATGTATGCTCTC -3'
(R):5'- TCCTGTGGAGACGACTCTTC -3'
Sequencing Primer
(F):5'- CCAGTGCTTTCTGGTAGGCAG -3'
(R):5'- TGGAGACGACTCTTCACCTACATG -3'
|
Posted On |
2019-06-07 |