Incidental Mutation 'R7804:Tbc1d9'
ID |
600671 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
045859-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R7804 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83963341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 351
(L351P)
|
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 |
possibly damaging
Transcript: ENSMUST00000093393
AA Change: L351P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: L351P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
95% (55/58) |
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGTGTATGTGT |
GTGTGT |
11: 43,478,241 (GRCm39) |
|
probably benign |
Het |
Ago4 |
A |
T |
4: 126,406,423 (GRCm39) |
C296S |
probably benign |
Het |
Apbb1 |
A |
G |
7: 105,215,807 (GRCm39) |
L401P |
probably damaging |
Het |
Cacnb2 |
C |
A |
2: 14,972,848 (GRCm39) |
P252T |
probably benign |
Het |
Ctnna2 |
C |
T |
6: 77,618,357 (GRCm39) |
V202I |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,873,153 (GRCm39) |
I352F |
probably benign |
Het |
Dexi |
T |
C |
16: 10,360,349 (GRCm39) |
D69G |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,215,388 (GRCm39) |
E645G |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,551,841 (GRCm39) |
I2826T |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,610,235 (GRCm39) |
W1734R |
probably damaging |
Het |
Dtna |
A |
G |
18: 23,728,666 (GRCm39) |
K287R |
probably damaging |
Het |
Elovl5 |
A |
G |
9: 77,887,105 (GRCm39) |
|
probably null |
Het |
Ess2 |
T |
A |
16: 17,729,031 (GRCm39) |
I47F |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,979 (GRCm39) |
P180Q |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,901,888 (GRCm39) |
V3046I |
probably benign |
Het |
Fem1a |
A |
G |
17: 56,565,068 (GRCm39) |
D387G |
probably damaging |
Het |
Frmd5 |
A |
G |
2: 121,422,225 (GRCm39) |
Y33H |
probably damaging |
Het |
Gucy2g |
A |
T |
19: 55,216,584 (GRCm39) |
L464H |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,103,489 (GRCm39) |
E1189G |
possibly damaging |
Het |
Itgb4 |
T |
C |
11: 115,894,510 (GRCm39) |
V1355A |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,639,783 (GRCm39) |
S750C |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,526,798 (GRCm39) |
D603G |
probably benign |
Het |
Map4k3 |
A |
C |
17: 80,922,499 (GRCm39) |
V474G |
probably damaging |
Het |
Myl4 |
T |
A |
11: 104,475,787 (GRCm39) |
V167E |
probably damaging |
Het |
Naa25 |
T |
C |
5: 121,562,652 (GRCm39) |
V478A |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,796,700 (GRCm39) |
L487H |
probably benign |
Het |
Nkx2-9 |
C |
T |
12: 56,658,917 (GRCm39) |
R99H |
probably damaging |
Het |
Or4c110 |
C |
G |
2: 88,831,855 (GRCm39) |
R259P |
unknown |
Het |
Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
Or6c76 |
A |
G |
10: 129,612,091 (GRCm39) |
I103V |
probably benign |
Het |
Pcdhga9 |
A |
G |
18: 37,871,132 (GRCm39) |
I320M |
probably damaging |
Het |
Pi15 |
T |
A |
1: 17,695,137 (GRCm39) |
C251* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,460,534 (GRCm39) |
K4248* |
probably null |
Het |
Prkg1 |
C |
T |
19: 30,556,032 (GRCm39) |
V625I |
probably benign |
Het |
Prkg1 |
G |
A |
19: 30,602,170 (GRCm39) |
A362V |
possibly damaging |
Het |
Prol1 |
C |
T |
5: 88,476,264 (GRCm39) |
T218I |
unknown |
Het |
Ptpro |
G |
A |
6: 137,376,599 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,699,481 (GRCm39) |
I1326K |
probably benign |
Het |
Shank1 |
C |
A |
7: 43,962,308 (GRCm39) |
R60S |
unknown |
Het |
Slc24a2 |
A |
G |
4: 86,909,774 (GRCm39) |
V648A |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
Specc1 |
C |
T |
11: 62,096,223 (GRCm39) |
T895I |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,023,471 (GRCm39) |
E626G |
possibly damaging |
Het |
Syngr2 |
C |
A |
11: 117,703,401 (GRCm39) |
S72R |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,069,809 (GRCm39) |
L490Q |
unknown |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Themis3 |
G |
A |
17: 66,862,605 (GRCm39) |
T451I |
probably benign |
Het |
Tia1 |
T |
C |
6: 86,401,364 (GRCm39) |
S146P |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,022,441 (GRCm39) |
N946K |
probably benign |
Het |
Tpr |
A |
T |
1: 150,308,310 (GRCm39) |
R1688S |
probably damaging |
Het |
Trav12-1 |
A |
G |
14: 53,775,988 (GRCm39) |
Q47R |
possibly damaging |
Het |
Ttll9 |
G |
A |
2: 152,844,278 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
A |
2: 76,537,585 (GRCm39) |
T34781M |
possibly damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,298 (GRCm39) |
Y167C |
probably damaging |
Het |
Vegfb |
T |
C |
19: 6,963,707 (GRCm39) |
D84G |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
Wdr26 |
A |
G |
1: 181,010,387 (GRCm39) |
I554T |
probably damaging |
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 |
R5270:Tbc1d9
|
UTSW |
8 |
83,960,283 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CTTGCAGTGATCTGGATGCC -3'
(R):5'- AGGCACCATCAGTACTCACG -3'
Sequencing Primer
(F):5'- CGAAGAGCGAGCGATACC -3'
(R):5'- GGTTTGAATGCCATGAACCC -3'
|
Posted On |
2019-11-26 |