Incidental Mutation 'IGL00837:Tbc1d30'
| ID |
14385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d30
|
| Ensembl Gene |
ENSMUSG00000052302 |
| Gene Name |
TBC1 domain family, member 30 |
| Synonyms |
4930505D03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00837
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121099725-121187183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121132750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 205
(I205V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064107]
|
| AlphaFold |
Q69ZT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064107
AA Change: I205V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: I205V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
TBC
|
84 |
318 |
2.22e-30 |
SMART |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
Pfam:DUF4682
|
475 |
613 |
4.3e-50 |
PFAM |
|
low complexity region
|
623 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218688
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
T |
C |
6: 55,438,605 (GRCm39) |
|
probably benign |
Het |
| Adig |
T |
A |
2: 158,344,709 (GRCm39) |
F16Y |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,211,880 (GRCm39) |
T210A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,646,724 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,885,598 (GRCm39) |
I701N |
possibly damaging |
Het |
| Armc1 |
A |
C |
3: 19,198,584 (GRCm39) |
N125K |
probably benign |
Het |
| Bcl2a1c |
A |
T |
9: 114,159,560 (GRCm39) |
T113S |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 19,013,490 (GRCm39) |
I697L |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,829,137 (GRCm39) |
S256T |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,883,999 (GRCm39) |
N82S |
probably benign |
Het |
| Gart |
T |
C |
16: 91,435,608 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
A |
G |
10: 40,130,470 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,851,100 (GRCm39) |
|
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,517,666 (GRCm39) |
Y92* |
probably null |
Het |
| Muc13 |
A |
T |
16: 33,628,329 (GRCm39) |
K360* |
probably null |
Het |
| Nfyc |
A |
G |
4: 120,638,744 (GRCm39) |
|
probably benign |
Het |
| Pole |
T |
A |
5: 110,449,875 (GRCm39) |
V774E |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,379,770 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,272,816 (GRCm39) |
I373F |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,750,887 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,189,430 (GRCm39) |
D270V |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,123,971 (GRCm39) |
S483N |
probably benign |
Het |
| Tor1aip1 |
T |
A |
1: 155,882,662 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
A |
C |
1: 37,840,992 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,065,915 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,825 (GRCm39) |
L143* |
probably null |
Het |
|
| Other mutations in Tbc1d30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Tbc1d30
|
APN |
10 |
121,102,729 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01081:Tbc1d30
|
APN |
10 |
121,103,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:Tbc1d30
|
APN |
10 |
121,102,956 (GRCm39) |
missense |
probably benign |
|
|
IGL01844:Tbc1d30
|
APN |
10 |
121,103,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1782:Tbc1d30
|
UTSW |
10 |
121,103,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Tbc1d30
|
UTSW |
10 |
121,142,135 (GRCm39) |
splice site |
probably null |
|
|
R2025:Tbc1d30
|
UTSW |
10 |
121,115,051 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2197:Tbc1d30
|
UTSW |
10 |
121,140,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:Tbc1d30
|
UTSW |
10 |
121,108,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Tbc1d30
|
UTSW |
10 |
121,130,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Tbc1d30
|
UTSW |
10 |
121,115,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4624:Tbc1d30
|
UTSW |
10 |
121,132,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4960:Tbc1d30
|
UTSW |
10 |
121,103,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5170:Tbc1d30
|
UTSW |
10 |
121,142,743 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5566:Tbc1d30
|
UTSW |
10 |
121,138,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Tbc1d30
|
UTSW |
10 |
121,132,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Tbc1d30
|
UTSW |
10 |
121,103,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6051:Tbc1d30
|
UTSW |
10 |
121,132,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Tbc1d30
|
UTSW |
10 |
121,130,630 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7106:Tbc1d30
|
UTSW |
10 |
121,137,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7233:Tbc1d30
|
UTSW |
10 |
121,107,962 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7256:Tbc1d30
|
UTSW |
10 |
121,124,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Tbc1d30
|
UTSW |
10 |
121,132,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Tbc1d30
|
UTSW |
10 |
121,183,061 (GRCm39) |
nonsense |
probably null |
|
|
R7958:Tbc1d30
|
UTSW |
10 |
121,107,962 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7978:Tbc1d30
|
UTSW |
10 |
121,142,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Tbc1d30
|
UTSW |
10 |
121,103,448 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8394:Tbc1d30
|
UTSW |
10 |
121,183,013 (GRCm39) |
nonsense |
probably null |
|
|
R8472:Tbc1d30
|
UTSW |
10 |
121,187,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Tbc1d30
|
UTSW |
10 |
121,103,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Tbc1d30
|
UTSW |
10 |
121,187,059 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9124:Tbc1d30
|
UTSW |
10 |
121,132,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9186:Tbc1d30
|
UTSW |
10 |
121,111,639 (GRCm39) |
missense |
probably benign |
|
|
R9282:Tbc1d30
|
UTSW |
10 |
121,142,128 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9342:Tbc1d30
|
UTSW |
10 |
121,103,366 (GRCm39) |
nonsense |
probably null |
|
|
R9531:Tbc1d30
|
UTSW |
10 |
121,183,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Tbc1d30
|
UTSW |
10 |
121,102,886 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9799:Tbc1d30
|
UTSW |
10 |
121,142,074 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9803:Tbc1d30
|
UTSW |
10 |
121,107,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tbc1d30
|
UTSW |
10 |
121,138,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d30
|
UTSW |
10 |
121,186,969 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2012-12-06 |
Incidental Mutation