Incidental Mutation 'IGL03099:Tbc1d19'
| ID |
418674 |
| 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: 0.213)
|
| Stock # |
IGL03099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
53966948-54061307 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 54040997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037337]
[ENSMUST00000201958]
|
| 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 |
probably benign
Transcript: ENSMUST00000201958
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
C |
A |
1: 87,055,328 (GRCm39) |
F458L |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,353 (GRCm39) |
L546P |
unknown |
Het |
| Arpc5l |
A |
G |
2: 38,903,844 (GRCm39) |
Y111C |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,877,462 (GRCm39) |
F296S |
possibly damaging |
Het |
| Bbof1 |
C |
T |
12: 84,473,539 (GRCm39) |
Q290* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,777,835 (GRCm39) |
T761S |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,424,328 (GRCm39) |
M143K |
possibly damaging |
Het |
| Daw1 |
T |
C |
1: 83,157,088 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,314,862 (GRCm39) |
N6498D |
probably damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,999,338 (GRCm39) |
L380P |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,344 (GRCm39) |
F602L |
probably benign |
Het |
| Gpatch1 |
A |
G |
7: 34,996,948 (GRCm39) |
S417P |
possibly damaging |
Het |
| Hjurp |
T |
C |
1: 88,194,011 (GRCm39) |
K223R |
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,146 (GRCm39) |
C113Y |
probably damaging |
Het |
| Igkv4-71 |
T |
C |
6: 69,220,399 (GRCm39) |
M11V |
probably benign |
Het |
| Insr |
G |
T |
8: 3,308,715 (GRCm39) |
T107K |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,919,947 (GRCm39) |
T306M |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,164,852 (GRCm39) |
I425V |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,408 (GRCm39) |
V95E |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snx10 |
T |
A |
6: 51,556,840 (GRCm39) |
M41K |
possibly damaging |
Het |
| Sos2 |
T |
A |
12: 69,663,133 (GRCm39) |
N588Y |
probably damaging |
Het |
| Srrm3 |
C |
A |
5: 135,898,152 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,448 (GRCm39) |
K612* |
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 |
|
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 |
2016-08-02 |
Incidental Mutation