Incidental Mutation 'R5270:Tbc1d9'
ID |
400207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
042835-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5270 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83960283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 179
(M179V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
AlphaFold |
Q3UYK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034145
|
SMART Domains |
Protein: ENSMUSP00000034145 Gene: ENSMUSG00000031709
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
TBC
|
279 |
492 |
8.68e-56 |
SMART |
Blast:TBC
|
500 |
587 |
5e-35 |
BLAST |
PDB:1BJF|B
|
579 |
703 |
3e-7 |
PDB |
low complexity region
|
917 |
937 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093393
AA Change: M179V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: M179V
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
GRAM
|
146 |
213 |
1.2e-25 |
SMART |
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
GRAM
|
293 |
361 |
1.37e-20 |
SMART |
low complexity region
|
425 |
441 |
N/A |
INTRINSIC |
TBC
|
512 |
725 |
8.68e-56 |
SMART |
Blast:TBC
|
733 |
820 |
6e-35 |
BLAST |
PDB:1BJF|B
|
812 |
936 |
4e-7 |
PDB |
low complexity region
|
1150 |
1170 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1243 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
T |
C |
19: 55,282,650 (GRCm39) |
V585A |
possibly damaging |
Het |
Adam6a |
A |
T |
12: 113,507,747 (GRCm39) |
H40L |
possibly damaging |
Het |
Adamts20 |
G |
A |
15: 94,180,400 (GRCm39) |
P1752S |
probably benign |
Het |
Atp5if1 |
A |
G |
4: 132,260,611 (GRCm39) |
F27L |
probably damaging |
Het |
B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
Ciz1 |
C |
A |
2: 32,264,511 (GRCm39) |
|
probably null |
Het |
Crb1 |
T |
A |
1: 139,164,602 (GRCm39) |
Y1174F |
probably damaging |
Het |
Csf2rb2 |
A |
T |
15: 78,176,182 (GRCm39) |
|
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,918,312 (GRCm39) |
M433K |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,783,270 (GRCm39) |
I735V |
probably benign |
Het |
Dpp6 |
C |
T |
5: 27,839,532 (GRCm39) |
S349L |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,026,778 (GRCm39) |
N1256K |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,244 (GRCm39) |
V255A |
probably damaging |
Het |
Gabrb1 |
A |
T |
5: 72,265,669 (GRCm39) |
D155V |
probably damaging |
Het |
Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
Hcrt |
T |
C |
11: 100,652,823 (GRCm39) |
T64A |
probably damaging |
Het |
Henmt1 |
G |
A |
3: 108,867,530 (GRCm39) |
R355H |
probably benign |
Het |
Hrh1 |
C |
A |
6: 114,458,179 (GRCm39) |
R487S |
possibly damaging |
Het |
Ints2 |
T |
C |
11: 86,106,621 (GRCm39) |
S930G |
probably damaging |
Het |
Irs2 |
G |
A |
8: 11,056,678 (GRCm39) |
Q585* |
probably null |
Het |
Kcns1 |
C |
A |
2: 164,010,249 (GRCm39) |
R170L |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,960,467 (GRCm39) |
S1351P |
probably damaging |
Het |
Ly9 |
T |
C |
1: 171,428,730 (GRCm39) |
T297A |
probably damaging |
Het |
M6pr |
G |
A |
6: 122,292,048 (GRCm39) |
D127N |
possibly damaging |
Het |
Macir |
T |
C |
1: 97,573,720 (GRCm39) |
Q115R |
probably damaging |
Het |
Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
Nit2 |
G |
A |
16: 56,977,494 (GRCm39) |
P179S |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,994,424 (GRCm39) |
M516T |
probably benign |
Het |
Pkdrej |
A |
T |
15: 85,702,528 (GRCm39) |
I1136N |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,468 (GRCm39) |
M243V |
probably damaging |
Het |
Prdm9 |
G |
T |
17: 15,773,625 (GRCm39) |
T257K |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,552,819 (GRCm39) |
L2085P |
probably damaging |
Het |
Rasgrf1 |
A |
C |
9: 89,908,747 (GRCm39) |
E1240D |
probably benign |
Het |
Rrh |
T |
C |
3: 129,606,998 (GRCm39) |
I142V |
probably benign |
Het |
Saal1 |
G |
T |
7: 46,351,157 (GRCm39) |
|
probably benign |
Het |
Sdcbp2 |
A |
G |
2: 151,426,812 (GRCm39) |
I70V |
probably benign |
Het |
Skida1 |
C |
A |
2: 18,052,460 (GRCm39) |
A231S |
probably benign |
Het |
Smtnl2 |
T |
A |
11: 72,290,743 (GRCm39) |
T401S |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Spag4 |
G |
T |
2: 155,907,853 (GRCm39) |
|
probably benign |
Het |
Tm9sf1 |
G |
T |
14: 55,873,938 (GRCm39) |
T520N |
probably damaging |
Het |
Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
Vmn1r47 |
A |
T |
6: 89,999,525 (GRCm39) |
Q219L |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,258,528 (GRCm39) |
C539S |
probably damaging |
Het |
Wdr17 |
G |
T |
8: 55,096,221 (GRCm39) |
S1024R |
probably benign |
Het |
Zc3h4 |
A |
G |
7: 16,168,440 (GRCm39) |
T850A |
unknown |
Het |
Zfa-ps |
A |
G |
10: 52,419,552 (GRCm39) |
|
noncoding transcript |
Het |
Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
Zfp353-ps |
G |
T |
8: 42,534,572 (GRCm39) |
|
noncoding transcript |
Het |
Zfp607a |
A |
T |
7: 27,577,730 (GRCm39) |
K267* |
probably null |
Het |
|
Other mutations in Tbc1d9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01067:Tbc1d9
|
APN |
8 |
83,960,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01443:Tbc1d9
|
APN |
8 |
83,966,560 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01536:Tbc1d9
|
APN |
8 |
83,987,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01811:Tbc1d9
|
APN |
8 |
83,960,307 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02068:Tbc1d9
|
APN |
8 |
83,966,497 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02938:Tbc1d9
|
APN |
8 |
83,995,696 (GRCm39) |
splice site |
probably benign |
|
IGL02995:Tbc1d9
|
APN |
8 |
83,995,688 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03127:Tbc1d9
|
APN |
8 |
83,976,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03128:Tbc1d9
|
APN |
8 |
83,892,714 (GRCm39) |
missense |
probably benign |
0.01 |
H9600:Tbc1d9
|
UTSW |
8 |
83,937,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Tbc1d9
|
UTSW |
8 |
83,960,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Tbc1d9
|
UTSW |
8 |
83,960,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R0112:Tbc1d9
|
UTSW |
8 |
83,991,466 (GRCm39) |
splice site |
probably benign |
|
R0525:Tbc1d9
|
UTSW |
8 |
83,995,614 (GRCm39) |
missense |
probably benign |
0.08 |
R0528:Tbc1d9
|
UTSW |
8 |
83,937,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Tbc1d9
|
UTSW |
8 |
83,985,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1144:Tbc1d9
|
UTSW |
8 |
83,963,200 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1354:Tbc1d9
|
UTSW |
8 |
83,995,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1551:Tbc1d9
|
UTSW |
8 |
83,992,787 (GRCm39) |
missense |
probably benign |
0.03 |
R1620:Tbc1d9
|
UTSW |
8 |
83,976,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Tbc1d9
|
UTSW |
8 |
83,976,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Tbc1d9
|
UTSW |
8 |
83,997,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:Tbc1d9
|
UTSW |
8 |
83,997,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R2149:Tbc1d9
|
UTSW |
8 |
83,998,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R2442:Tbc1d9
|
UTSW |
8 |
83,892,705 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
R2920:Tbc1d9
|
UTSW |
8 |
83,937,098 (GRCm39) |
missense |
probably benign |
0.00 |
R3832:Tbc1d9
|
UTSW |
8 |
83,960,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R3953:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R3955:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R3956:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R3957:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R4117:Tbc1d9
|
UTSW |
8 |
83,992,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4467:Tbc1d9
|
UTSW |
8 |
83,937,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4533:Tbc1d9
|
UTSW |
8 |
83,997,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R4568:Tbc1d9
|
UTSW |
8 |
83,997,806 (GRCm39) |
missense |
probably benign |
0.00 |
R4694:Tbc1d9
|
UTSW |
8 |
83,960,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R4804:Tbc1d9
|
UTSW |
8 |
83,982,554 (GRCm39) |
critical splice donor site |
probably null |
|
R5056:Tbc1d9
|
UTSW |
8 |
83,995,835 (GRCm39) |
missense |
probably benign |
|
R5073:Tbc1d9
|
UTSW |
8 |
83,960,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R5122:Tbc1d9
|
UTSW |
8 |
83,963,172 (GRCm39) |
missense |
probably damaging |
0.98 |
R5618:Tbc1d9
|
UTSW |
8 |
83,969,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R5738:Tbc1d9
|
UTSW |
8 |
83,997,655 (GRCm39) |
missense |
probably benign |
|
R5793:Tbc1d9
|
UTSW |
8 |
83,998,069 (GRCm39) |
missense |
probably damaging |
0.96 |
R5908:Tbc1d9
|
UTSW |
8 |
83,976,174 (GRCm39) |
missense |
probably benign |
0.05 |
R6258:Tbc1d9
|
UTSW |
8 |
83,937,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6584:Tbc1d9
|
UTSW |
8 |
83,987,629 (GRCm39) |
missense |
probably damaging |
0.98 |
R6888:Tbc1d9
|
UTSW |
8 |
83,998,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6897:Tbc1d9
|
UTSW |
8 |
83,892,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R6969:Tbc1d9
|
UTSW |
8 |
83,968,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R7026:Tbc1d9
|
UTSW |
8 |
83,968,192 (GRCm39) |
missense |
probably benign |
0.06 |
R7072:Tbc1d9
|
UTSW |
8 |
83,991,494 (GRCm39) |
missense |
probably damaging |
0.97 |
R7099:Tbc1d9
|
UTSW |
8 |
83,981,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Tbc1d9
|
UTSW |
8 |
83,937,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7172:Tbc1d9
|
UTSW |
8 |
83,981,390 (GRCm39) |
missense |
probably damaging |
0.96 |
R7267:Tbc1d9
|
UTSW |
8 |
83,997,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Tbc1d9
|
UTSW |
8 |
83,997,890 (GRCm39) |
missense |
probably damaging |
0.96 |
R7457:Tbc1d9
|
UTSW |
8 |
83,963,309 (GRCm39) |
missense |
probably damaging |
0.99 |
R7552:Tbc1d9
|
UTSW |
8 |
83,966,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7645:Tbc1d9
|
UTSW |
8 |
83,969,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7728:Tbc1d9
|
UTSW |
8 |
83,985,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R7804:Tbc1d9
|
UTSW |
8 |
83,963,341 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7978:Tbc1d9
|
UTSW |
8 |
83,966,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R8150:Tbc1d9
|
UTSW |
8 |
83,982,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R8325:Tbc1d9
|
UTSW |
8 |
83,966,667 (GRCm39) |
critical splice donor site |
probably null |
|
R8940:Tbc1d9
|
UTSW |
8 |
83,981,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R8995:Tbc1d9
|
UTSW |
8 |
83,998,180 (GRCm39) |
missense |
probably benign |
|
R9075:Tbc1d9
|
UTSW |
8 |
83,982,501 (GRCm39) |
missense |
probably benign |
0.06 |
R9291:Tbc1d9
|
UTSW |
8 |
83,987,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R9335:Tbc1d9
|
UTSW |
8 |
83,937,160 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9749:Tbc1d9
|
UTSW |
8 |
83,968,339 (GRCm39) |
critical splice donor site |
probably null |
|
X0062:Tbc1d9
|
UTSW |
8 |
83,960,331 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTGCTTCACTCCTCTGTG -3'
(R):5'- GAAACAGTCTTGACTCCCCTC -3'
Sequencing Primer
(F):5'- TGTTCCGCTGCAGGCATAAC -3'
(R):5'- GACTCCCCTCTGTATTCATGG -3'
|
Posted On |
2016-07-06 |