Incidental Mutation 'R5178:Tbc1d19'
| ID |
399456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d19
|
| Ensembl Gene |
ENSMUSG00000039178 |
| Gene Name |
TBC1 domain family, member 19 |
| Synonyms |
2810453K03Rik |
| MMRRC Submission |
042758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R5178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53966948-54061307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54046667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 413
(S413T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037337]
[ENSMUST00000201958]
|
| AlphaFold |
Q8VDV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037337
AA Change: S413T
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: S413T
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
248 |
496 |
8.07e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202880
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lhx1 |
G |
T |
11: 84,411,214 (GRCm39) |
A155E |
possibly damaging |
Het |
| Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Mmp17 |
T |
A |
5: 129,672,122 (GRCm39) |
W132R |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,821,218 (GRCm39) |
T169A |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
| Wasf1 |
G |
A |
10: 40,813,672 (GRCm39) |
R518H |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
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 |
|
R3431:Tbc1d19
|
UTSW |
5 |
54,005,548 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- GTGGCTCACAAAATGGCAGG -3'
(R):5'- TAACATGGTCGCTTTGAGGG -3'
Sequencing Primer
(F):5'- CAAAATGGCAGGGTTTTTATAAAGG -3'
(R):5'- AGGGGAGAACTGTTGCCTCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation