Incidental Mutation 'R3431:Tbc1d19'
| ID |
268109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d19
|
| Ensembl Gene |
ENSMUSG00000039178 |
| Gene Name |
TBC1 domain family, member 19 |
| Synonyms |
2810453K03Rik |
| MMRRC Submission |
040649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R3431 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53966948-54061307 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 54005548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037337]
[ENSMUST00000201958]
[ENSMUST00000202528]
|
| AlphaFold |
Q8VDV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037337
|
| SMART Domains |
Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
248 |
496 |
8.07e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202528
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,746,560 (GRCm39) |
H140R |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
G |
12: 8,060,778 (GRCm39) |
F3054V |
probably damaging |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Calcb |
A |
T |
7: 114,319,064 (GRCm39) |
R30W |
probably damaging |
Het |
| Cbl |
T |
C |
9: 44,062,743 (GRCm39) |
*914W |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,097,523 (GRCm39) |
|
probably benign |
Het |
| Clec4a2 |
A |
T |
6: 123,116,370 (GRCm39) |
|
probably null |
Het |
| Crb2 |
T |
A |
2: 37,682,229 (GRCm39) |
V870E |
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,306 (GRCm39) |
E203G |
probably damaging |
Het |
| Dhrs7 |
A |
T |
12: 72,711,501 (GRCm39) |
L12Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,413 (GRCm39) |
Y1382C |
probably benign |
Het |
| Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
| Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
| Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,354 (GRCm39) |
E6029G |
possibly damaging |
Het |
| Gm20775 |
A |
T |
Y: 10,641,956 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4924 |
T |
A |
10: 82,214,864 (GRCm39) |
Y887* |
probably null |
Het |
| H60c |
G |
T |
10: 3,210,382 (GRCm39) |
R56S |
possibly damaging |
Het |
| Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,892,843 (GRCm39) |
E46D |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,280,479 (GRCm39) |
T164A |
probably benign |
Het |
| Mthfd2 |
T |
C |
6: 83,288,330 (GRCm39) |
R142G |
probably benign |
Het |
| Mup4 |
T |
G |
4: 59,959,192 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 54,115,832 (GRCm39) |
Q900L |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,022,205 (GRCm39) |
D141G |
probably damaging |
Het |
| Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,113,695 (GRCm39) |
T1705A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,486,876 (GRCm39) |
V3834E |
probably damaging |
Het |
| Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,572,297 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Tulp4 |
C |
A |
17: 6,257,239 (GRCm39) |
S311R |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
| Usp34 |
T |
C |
11: 23,320,466 (GRCm39) |
I917T |
possibly damaging |
Het |
|
| Other mutations in Tbc1d19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01121:Tbc1d19
|
APN |
5 |
54,054,404 (GRCm39) |
nonsense |
probably null |
|
|
IGL01684:Tbc1d19
|
APN |
5 |
54,014,221 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02476:Tbc1d19
|
APN |
5 |
54,046,755 (GRCm39) |
splice site |
probably null |
|
|
IGL02869:Tbc1d19
|
APN |
5 |
53,992,559 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03036:Tbc1d19
|
APN |
5 |
54,054,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03099:Tbc1d19
|
APN |
5 |
54,040,997 (GRCm39) |
splice site |
probably benign |
|
|
LCD18:Tbc1d19
|
UTSW |
5 |
53,974,051 (GRCm39) |
intron |
probably benign |
|
|
R0194:Tbc1d19
|
UTSW |
5 |
54,017,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Tbc1d19
|
UTSW |
5 |
53,986,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Tbc1d19
|
UTSW |
5 |
54,046,653 (GRCm39) |
splice site |
probably null |
|
|
R1784:Tbc1d19
|
UTSW |
5 |
53,986,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Tbc1d19
|
UTSW |
5 |
53,986,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3432:Tbc1d19
|
UTSW |
5 |
54,005,548 (GRCm39) |
unclassified |
probably benign |
|
|
R4333:Tbc1d19
|
UTSW |
5 |
54,029,619 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4335:Tbc1d19
|
UTSW |
5 |
54,029,619 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4681:Tbc1d19
|
UTSW |
5 |
54,029,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Tbc1d19
|
UTSW |
5 |
53,967,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5178:Tbc1d19
|
UTSW |
5 |
54,046,667 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5214:Tbc1d19
|
UTSW |
5 |
54,007,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6265:Tbc1d19
|
UTSW |
5 |
53,995,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6372:Tbc1d19
|
UTSW |
5 |
54,014,252 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6494:Tbc1d19
|
UTSW |
5 |
53,986,725 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6495:Tbc1d19
|
UTSW |
5 |
54,046,555 (GRCm39) |
splice site |
probably null |
|
|
R6612:Tbc1d19
|
UTSW |
5 |
53,967,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6787:Tbc1d19
|
UTSW |
5 |
53,992,591 (GRCm39) |
splice site |
probably null |
|
|
R6965:Tbc1d19
|
UTSW |
5 |
54,014,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7275:Tbc1d19
|
UTSW |
5 |
54,029,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Tbc1d19
|
UTSW |
5 |
54,014,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7655:Tbc1d19
|
UTSW |
5 |
54,054,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Tbc1d19
|
UTSW |
5 |
54,054,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Tbc1d19
|
UTSW |
5 |
54,054,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8479:Tbc1d19
|
UTSW |
5 |
54,041,031 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0026:Tbc1d19
|
UTSW |
5 |
53,992,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTGCCGCATAAACACAC -3'
(R):5'- GTGCTTAACTTACTGAGACAGC -3'
Sequencing Primer
(F):5'- CACACGAACAAAATCTCATGTTTTC -3'
(R):5'- AGCTAATATGCTGCATTTTGCTTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation