Incidental Mutation 'IGL01121:Tbc1d19'
| ID |
51146 |
| 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 # |
IGL01121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
53966948-54061307 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 54054404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 464
(L464*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037337]
[ENSMUST00000201958]
|
| AlphaFold |
Q8VDV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037337
AA Change: L464*
|
| SMART Domains |
Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: L464*
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
| 4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
| Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
| Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,950,058 (GRCm39) |
S369P |
probably benign |
Het |
| Car4 |
A |
T |
11: 84,855,172 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
| Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
| Dscc1 |
A |
G |
15: 54,945,721 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
| E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
| Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,705,464 (GRCm39) |
F47L |
probably benign |
Het |
| Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
| Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
| Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
| Lrif1 |
C |
A |
3: 106,642,980 (GRCm39) |
S177* |
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
| Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
| Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
A |
T |
17: 44,328,775 (GRCm39) |
I69L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,683,862 (GRCm39) |
L373P |
probably damaging |
Het |
| Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
| Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
| Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
| Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
| Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
| Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
possibly damaging |
Het |
|
| Other mutations in Tbc1d19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation