Incidental Mutation 'IGL01081:Tbc1d30'
| ID |
52067 |
| 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 # |
IGL01081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121099725-121187183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 121103319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 571
(R571L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064107]
|
| AlphaFold |
Q69ZT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064107
AA Change: R571L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: R571L
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
A |
G |
9: 26,901,890 (GRCm39) |
L158P |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,197,576 (GRCm39) |
Q860R |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,181 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Adam26b |
T |
C |
8: 43,972,975 (GRCm39) |
I676V |
probably benign |
Het |
| Aldoart2 |
A |
C |
12: 55,612,920 (GRCm39) |
I282L |
probably benign |
Het |
| Capns1 |
G |
T |
7: 29,889,565 (GRCm39) |
S211R |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,245,983 (GRCm39) |
V1158A |
probably damaging |
Het |
| Cryl1 |
C |
T |
14: 57,523,821 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
A |
G |
9: 44,425,607 (GRCm39) |
|
probably benign |
Het |
| Dcaf13 |
A |
G |
15: 38,982,201 (GRCm39) |
K56E |
probably damaging |
Het |
| Dlx6 |
T |
G |
6: 6,867,068 (GRCm39) |
S85A |
probably damaging |
Het |
| Dsg2 |
C |
T |
18: 20,722,999 (GRCm39) |
|
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,549,665 (GRCm39) |
S412T |
possibly damaging |
Het |
| Ebf3 |
C |
A |
7: 136,827,625 (GRCm39) |
|
probably benign |
Het |
| Fads3 |
T |
C |
19: 10,030,366 (GRCm39) |
I168T |
probably benign |
Het |
| Gm10295 |
G |
A |
7: 71,000,296 (GRCm39) |
P95S |
unknown |
Het |
| Gm43638 |
T |
C |
5: 87,634,455 (GRCm39) |
T51A |
probably damaging |
Het |
| Gm5114 |
G |
A |
7: 39,060,071 (GRCm39) |
|
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,737 (GRCm39) |
T974M |
probably damaging |
Het |
| Ighv1-19-1 |
T |
C |
12: 114,672,258 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,191,723 (GRCm39) |
L173Q |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,531,338 (GRCm39) |
D210G |
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,638,149 (GRCm39) |
N958K |
probably damaging |
Het |
| Msl3l2 |
G |
A |
10: 55,992,021 (GRCm39) |
A249T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,254 (GRCm39) |
E287G |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,519 (GRCm39) |
N290I |
possibly damaging |
Het |
| Or2b28 |
T |
G |
13: 21,531,185 (GRCm39) |
L29R |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,688,484 (GRCm39) |
T205A |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,955 (GRCm39) |
G41D |
probably benign |
Het |
| Pcsk7 |
A |
G |
9: 45,840,005 (GRCm39) |
D731G |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,480,298 (GRCm39) |
|
probably benign |
Het |
| Podxl |
T |
C |
6: 31,505,639 (GRCm39) |
T135A |
possibly damaging |
Het |
| Pole |
T |
G |
5: 110,485,106 (GRCm39) |
C407G |
possibly damaging |
Het |
| Prl |
C |
A |
13: 27,249,024 (GRCm39) |
N224K |
possibly damaging |
Het |
| Prnp |
A |
T |
2: 131,778,340 (GRCm39) |
|
probably benign |
Het |
| Proser2 |
A |
G |
2: 6,105,149 (GRCm39) |
*472R |
probably null |
Het |
| Rhag |
T |
C |
17: 41,122,178 (GRCm39) |
S38P |
possibly damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,856 (GRCm39) |
D10G |
probably damaging |
Het |
| Rps3a1 |
T |
C |
3: 86,049,085 (GRCm39) |
D29G |
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,097,012 (GRCm39) |
I446F |
probably benign |
Het |
| Tfrc |
T |
A |
16: 32,443,646 (GRCm39) |
|
probably null |
Het |
| Tnfaip1 |
G |
A |
11: 78,419,129 (GRCm39) |
P156S |
probably damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,166 (GRCm39) |
S133P |
probably damaging |
Het |
| Wnt9b |
C |
T |
11: 103,622,836 (GRCm39) |
R189K |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,983,726 (GRCm39) |
H564R |
probably benign |
Het |
| Zfp442 |
C |
A |
2: 150,251,267 (GRCm39) |
E211* |
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 |
|
|
IGL00837:Tbc1d30
|
APN |
10 |
121,132,750 (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 |
2013-06-21 |
Incidental Mutation