Incidental Mutation 'R8532:Tbc1d30'
ID |
659113 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d30
|
Ensembl Gene |
ENSMUSG00000052302 |
Gene Name |
TBC1 domain family, member 30 |
Synonyms |
4930505D03Rik |
MMRRC Submission |
068502-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8532 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
121099725-121187183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121103335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 566
(W566R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064107]
|
AlphaFold |
Q69ZT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064107
AA Change: W566R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070488 Gene: ENSMUSG00000052302 AA Change: W566R
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
A |
2: 69,090,035 (GRCm39) |
V950L |
possibly damaging |
Het |
Acsl6 |
T |
A |
11: 54,218,001 (GRCm39) |
V238E |
probably damaging |
Het |
Adam2 |
C |
A |
14: 66,293,970 (GRCm39) |
A286S |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,412,679 (GRCm39) |
I1215N |
probably damaging |
Het |
Anxa2 |
T |
C |
9: 69,374,594 (GRCm39) |
Y24H |
probably benign |
Het |
Brms1l |
T |
C |
12: 55,891,264 (GRCm39) |
L106P |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,341,510 (GRCm39) |
L1166Q |
probably damaging |
Het |
Ccdc110 |
T |
C |
8: 46,396,032 (GRCm39) |
L641P |
probably damaging |
Het |
Cep78 |
T |
A |
19: 15,936,948 (GRCm39) |
D586V |
possibly damaging |
Het |
Chek1 |
T |
C |
9: 36,630,988 (GRCm39) |
D142G |
probably benign |
Het |
Dennd1b |
A |
G |
1: 139,097,912 (GRCm39) |
|
probably benign |
Het |
Eif2b5 |
T |
C |
16: 20,323,956 (GRCm39) |
V433A |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,070,302 (GRCm39) |
Y868* |
probably null |
Het |
Fam149a |
T |
A |
8: 45,801,991 (GRCm39) |
T414S |
possibly damaging |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gm3604 |
A |
T |
13: 62,516,769 (GRCm39) |
C530S |
possibly damaging |
Het |
Gtf2e2 |
T |
C |
8: 34,248,633 (GRCm39) |
F140S |
probably damaging |
Het |
Ighv1-63 |
T |
C |
12: 115,459,270 (GRCm39) |
D109G |
probably damaging |
Het |
Igkv3-9 |
G |
C |
6: 70,565,706 (GRCm39) |
V102L |
possibly damaging |
Het |
Kif12 |
G |
A |
4: 63,087,656 (GRCm39) |
Q276* |
probably null |
Het |
Lrba |
C |
T |
3: 86,664,790 (GRCm39) |
R557C |
probably damaging |
Het |
Matn2 |
C |
A |
15: 34,316,699 (GRCm39) |
Q14K |
probably benign |
Het |
Mical2 |
C |
A |
7: 111,917,751 (GRCm39) |
F369L |
probably damaging |
Het |
Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
Or52e8b |
T |
C |
7: 104,673,773 (GRCm39) |
Y138C |
probably damaging |
Het |
Or9m2 |
A |
G |
2: 87,820,913 (GRCm39) |
T153A |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,125,125 (GRCm39) |
T350A |
probably benign |
Het |
Rcbtb1 |
T |
A |
14: 59,447,973 (GRCm39) |
C72* |
probably null |
Het |
Ros1 |
T |
G |
10: 51,974,852 (GRCm39) |
T1578P |
possibly damaging |
Het |
Rps6kb2 |
A |
T |
19: 4,209,243 (GRCm39) |
I200N |
probably damaging |
Het |
Slc17a4 |
C |
A |
13: 24,088,718 (GRCm39) |
W223L |
probably damaging |
Het |
Slitrk5 |
A |
T |
14: 111,916,909 (GRCm39) |
M178L |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,891,027 (GRCm39) |
|
probably null |
Het |
Syt10 |
C |
T |
15: 89,676,889 (GRCm39) |
E366K |
probably damaging |
Het |
Tbc1d16 |
A |
G |
11: 119,045,993 (GRCm39) |
F484L |
probably benign |
Het |
Tcaf1 |
A |
T |
6: 42,655,065 (GRCm39) |
I551K |
probably damaging |
Het |
Tdrd7 |
A |
G |
4: 46,016,920 (GRCm39) |
T654A |
probably damaging |
Het |
Timm44 |
A |
T |
8: 4,310,549 (GRCm39) |
I401N |
possibly damaging |
Het |
Xcl1 |
T |
A |
1: 164,759,515 (GRCm39) |
T62S |
probably damaging |
Het |
Zbtb11 |
A |
T |
16: 55,811,252 (GRCm39) |
H470L |
probably benign |
Het |
Zfp57 |
A |
G |
17: 37,320,793 (GRCm39) |
T213A |
possibly damaging |
Het |
Zfp715 |
A |
C |
7: 42,948,829 (GRCm39) |
I377S |
possibly damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,134 (GRCm39) |
D275E |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACTGTGAGCTGTTACTGTACG -3'
(R):5'- TAAGACAGCTGTGTTTCTGCG -3'
Sequencing Primer
(F):5'- AGCTGTTACTGTACGACCGGAG -3'
(R):5'- TTCTTTCAGACAAAGGGCCG -3'
|
Posted On |
2021-01-18 |