Incidental Mutation 'R5122:Tbc1d9'
ID |
393351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
042710-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5122 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83963172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 295
(Y295N)
|
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 damaging
Transcript: ENSMUST00000093393
AA Change: Y295N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: Y295N
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,750,409 (GRCm39) |
S1727P |
probably damaging |
Het |
Actr8 |
A |
T |
14: 29,704,672 (GRCm39) |
K57N |
possibly damaging |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,088,906 (GRCm39) |
|
probably null |
Het |
Bmp2k |
A |
G |
5: 97,234,874 (GRCm39) |
|
probably benign |
Het |
Cd274 |
A |
G |
19: 29,357,965 (GRCm39) |
H219R |
possibly damaging |
Het |
Cdc16 |
A |
T |
8: 13,814,570 (GRCm39) |
Y118F |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Chchd3 |
T |
C |
6: 32,945,240 (GRCm39) |
R89G |
probably benign |
Het |
Clstn2 |
C |
T |
9: 97,343,474 (GRCm39) |
V658M |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,308,226 (GRCm39) |
S160P |
probably benign |
Het |
Crym |
T |
C |
7: 119,794,718 (GRCm39) |
N167S |
probably benign |
Het |
Dhx16 |
T |
A |
17: 36,194,202 (GRCm39) |
Y438N |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,439,155 (GRCm39) |
R536G |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,061,454 (GRCm39) |
D382G |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,596,114 (GRCm39) |
G1547D |
probably damaging |
Het |
Eml3 |
T |
A |
19: 8,915,060 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,816,036 (GRCm39) |
P2799S |
probably damaging |
Het |
Ephb6 |
T |
C |
6: 41,590,338 (GRCm39) |
V30A |
probably benign |
Het |
Fam53b |
T |
A |
7: 132,380,991 (GRCm39) |
|
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,293,081 (GRCm39) |
K246R |
probably benign |
Het |
Focad |
G |
A |
4: 88,325,602 (GRCm39) |
|
probably null |
Het |
Glipr1l2 |
T |
C |
10: 111,942,961 (GRCm39) |
I272T |
possibly damaging |
Het |
Gm8104 |
A |
G |
14: 42,966,550 (GRCm39) |
I101V |
probably benign |
Het |
Grm5 |
A |
G |
7: 87,724,028 (GRCm39) |
I773V |
probably damaging |
Het |
Hyal1 |
A |
T |
9: 107,455,268 (GRCm39) |
T193S |
probably benign |
Het |
Igkv10-94 |
C |
A |
6: 68,681,655 (GRCm39) |
G62* |
probably null |
Het |
Itsn1 |
A |
G |
16: 91,690,732 (GRCm39) |
|
probably benign |
Het |
Kank4 |
A |
G |
4: 98,644,804 (GRCm39) |
S983P |
probably damaging |
Het |
Krtap16-1 |
C |
A |
11: 99,876,523 (GRCm39) |
V294F |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,672,823 (GRCm39) |
V866G |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,256,461 (GRCm39) |
R1268* |
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,023,314 (GRCm39) |
V984I |
probably damaging |
Het |
Macf1 |
A |
C |
4: 123,346,085 (GRCm39) |
V4136G |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,670,593 (GRCm39) |
E419D |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,324,518 (GRCm39) |
Y473C |
probably damaging |
Het |
Nod2 |
G |
T |
8: 89,390,748 (GRCm39) |
D330Y |
probably damaging |
Het |
Nt5c2 |
C |
T |
19: 46,878,360 (GRCm39) |
C458Y |
probably damaging |
Het |
Numa1 |
T |
C |
7: 101,662,976 (GRCm39) |
I681T |
probably damaging |
Het |
Or10a5 |
C |
A |
7: 106,636,055 (GRCm39) |
S231* |
probably null |
Het |
Papolg |
C |
T |
11: 23,817,501 (GRCm39) |
|
probably null |
Het |
Parn |
A |
G |
16: 13,472,311 (GRCm39) |
|
probably null |
Het |
Pgap2 |
T |
C |
7: 101,880,598 (GRCm39) |
F42S |
probably damaging |
Het |
Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
Pofut2 |
G |
C |
10: 77,104,399 (GRCm39) |
R392P |
probably damaging |
Het |
Prpf18 |
T |
C |
2: 4,648,520 (GRCm39) |
D102G |
probably damaging |
Het |
Rreb1 |
T |
A |
13: 38,114,744 (GRCm39) |
I701N |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,052,194 (GRCm39) |
K45R |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,361,032 (GRCm39) |
|
probably null |
Het |
Slf1 |
T |
A |
13: 77,198,106 (GRCm39) |
M723L |
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,819,141 (GRCm39) |
S47P |
probably benign |
Het |
Sra1 |
T |
C |
18: 36,800,647 (GRCm39) |
T187A |
probably benign |
Het |
Stk17b |
A |
C |
1: 53,815,717 (GRCm39) |
N27K |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 89,000,306 (GRCm39) |
V353A |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,718,749 (GRCm39) |
T2991S |
possibly damaging |
Het |
Urb1 |
G |
A |
16: 90,548,983 (GRCm39) |
R2242* |
probably null |
Het |
Vasp |
T |
C |
7: 18,998,697 (GRCm39) |
N20S |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
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 |
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 |
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'- CTGTAGTAAAATTATGTGCTCAGGGG -3'
(R):5'- AATCGATCCCAGGTTTCCAC -3'
Sequencing Primer
(F):5'- GGGGTTGAAGCTCCACCAATAC -3'
(R):5'- CACTTACTTCCCGGAGTGGAATTATG -3'
|
Posted On |
2016-06-15 |