Incidental Mutation 'IGL01684:Tbc1d19'
ID |
103888 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbc1d19
|
Ensembl Gene |
ENSMUSG00000039178 |
Gene Name |
TBC1 domain family, member 19 |
Synonyms |
2810453K03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.199)
|
Stock # |
IGL01684
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
53966948-54061307 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54014221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 283
(N283S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037337]
[ENSMUST00000201958]
|
AlphaFold |
Q8VDV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037337
AA Change: N283S
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000040585 Gene: ENSMUSG00000039178 AA Change: N283S
Domain | Start | End | E-Value | Type |
TBC
|
248 |
496 |
8.07e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201958
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ammecr1l |
G |
T |
18: 31,904,821 (GRCm39) |
V21F |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,116,740 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,008,885 (GRCm39) |
L283P |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,607,690 (GRCm39) |
G876S |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,222,206 (GRCm39) |
E179G |
possibly damaging |
Het |
Ckap5 |
T |
G |
2: 91,385,699 (GRCm39) |
D182E |
probably benign |
Het |
Clk1 |
A |
G |
1: 58,456,424 (GRCm39) |
|
probably null |
Het |
Dhx34 |
G |
A |
7: 15,937,204 (GRCm39) |
T831M |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,816,533 (GRCm39) |
I171T |
possibly damaging |
Het |
Fscn2 |
G |
A |
11: 120,258,131 (GRCm39) |
R351H |
probably damaging |
Het |
Gabbr2 |
G |
A |
4: 46,736,501 (GRCm39) |
S460L |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,838,330 (GRCm39) |
S308P |
possibly damaging |
Het |
Guca1a |
T |
C |
17: 47,706,068 (GRCm39) |
D137G |
probably null |
Het |
Heatr5a |
G |
A |
12: 52,002,294 (GRCm39) |
T214I |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,160,051 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,359,723 (GRCm39) |
S1854P |
probably damaging |
Het |
Mau2 |
A |
T |
8: 70,481,895 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,726,857 (GRCm39) |
I2639V |
probably benign |
Het |
Mylk |
A |
G |
16: 34,792,310 (GRCm39) |
M1544V |
possibly damaging |
Het |
Ogdh |
G |
T |
11: 6,292,546 (GRCm39) |
V420L |
probably damaging |
Het |
Or13a21 |
T |
C |
7: 139,998,828 (GRCm39) |
N286S |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,080,353 (GRCm39) |
F105S |
possibly damaging |
Het |
Pcm1 |
A |
G |
8: 41,710,960 (GRCm39) |
T77A |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,241 (GRCm39) |
I947F |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,534,031 (GRCm39) |
|
probably benign |
Het |
Ptch2 |
A |
G |
4: 116,961,984 (GRCm39) |
E107G |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,978,055 (GRCm39) |
E182G |
probably damaging |
Het |
Rpl23a-ps3 |
C |
T |
14: 33,892,745 (GRCm39) |
|
noncoding transcript |
Het |
Sorl1 |
T |
C |
9: 41,892,007 (GRCm39) |
D1881G |
probably damaging |
Het |
Tcf20 |
A |
G |
15: 82,741,361 (GRCm39) |
F30S |
probably damaging |
Het |
Tiparp |
A |
T |
3: 65,460,754 (GRCm39) |
K581I |
probably damaging |
Het |
Tle3 |
T |
C |
9: 61,310,728 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
C |
A |
2: 69,846,502 (GRCm39) |
Y1608* |
probably null |
Het |
Vmn1r59 |
T |
C |
7: 5,457,299 (GRCm39) |
T154A |
probably benign |
Het |
Vta1 |
A |
G |
10: 14,559,875 (GRCm39) |
I115T |
probably damaging |
Het |
Wwtr1 |
C |
A |
3: 57,483,210 (GRCm39) |
R31L |
probably damaging |
Het |
Zfp385b |
T |
C |
2: 77,550,019 (GRCm39) |
D22G |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 82,975,326 (GRCm39) |
E508G |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,581,191 (GRCm39) |
V76E |
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 |
|
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 |
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 |
|
|
Posted On |
2014-01-21 |