Incidental Mutation 'R5056:Tbc1d9'
ID |
390849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
042646-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5056 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83995835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1013
(S1013P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
AlphaFold |
Q3UYK3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: S780P
|
SMART Domains |
Protein: ENSMUSP00000034145 Gene: ENSMUSG00000031709 AA Change: S780P
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: S1013P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: S1013P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211568
|
Meta Mutation Damage Score |
0.0584 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.2%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
T |
A |
8: 117,698,421 (GRCm39) |
K229* |
probably null |
Het |
Adora2a |
T |
A |
10: 75,161,992 (GRCm39) |
S44T |
probably damaging |
Het |
Agap3 |
T |
C |
5: 24,682,860 (GRCm39) |
V459A |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,137,148 (GRCm39) |
V31A |
probably benign |
Het |
Asic2 |
T |
A |
11: 80,862,429 (GRCm39) |
K189N |
possibly damaging |
Het |
Bbs10 |
C |
T |
10: 111,136,401 (GRCm39) |
P505S |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,694,759 (GRCm39) |
I1578K |
probably benign |
Het |
Cdh20 |
G |
T |
1: 104,881,722 (GRCm39) |
V396L |
probably benign |
Het |
Cenpb |
C |
T |
2: 131,020,091 (GRCm39) |
|
probably benign |
Het |
Chil6 |
T |
A |
3: 106,301,659 (GRCm39) |
Y147F |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,552,772 (GRCm39) |
R606C |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,909,302 (GRCm39) |
T404A |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,467,636 (GRCm39) |
N1499S |
probably damaging |
Het |
Dmkn |
T |
C |
7: 30,463,529 (GRCm39) |
S61P |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,003,990 (GRCm39) |
C872R |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,620,169 (GRCm39) |
Y1587H |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,183,199 (GRCm39) |
V73D |
probably damaging |
Het |
F5 |
A |
T |
1: 164,019,601 (GRCm39) |
Y692F |
possibly damaging |
Het |
Fam184a |
A |
T |
10: 53,550,670 (GRCm39) |
L80I |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,810,833 (GRCm39) |
H271R |
probably benign |
Het |
Grm7 |
A |
G |
6: 111,057,404 (GRCm39) |
T335A |
probably damaging |
Het |
Hspa9 |
A |
G |
18: 35,071,734 (GRCm39) |
L622P |
probably damaging |
Het |
Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
Kcnd3 |
T |
A |
3: 105,574,244 (GRCm39) |
|
probably benign |
Het |
Klhdc8b |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
9: 108,326,184 (GRCm39) |
|
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrch4 |
C |
G |
5: 137,635,113 (GRCm39) |
N237K |
probably damaging |
Het |
Lss |
T |
G |
10: 76,388,760 (GRCm39) |
|
probably null |
Het |
Map6 |
T |
C |
7: 98,985,859 (GRCm39) |
F588L |
probably benign |
Het |
Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
Med13 |
A |
T |
11: 86,219,391 (GRCm39) |
S352T |
probably benign |
Het |
Mettl16 |
T |
A |
11: 74,707,766 (GRCm39) |
V320E |
probably benign |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Nup188 |
T |
A |
2: 30,194,143 (GRCm39) |
D149E |
probably damaging |
Het |
Ogfrl1 |
A |
G |
1: 23,418,130 (GRCm39) |
S83P |
probably damaging |
Het |
Or52l1 |
T |
A |
7: 104,829,779 (GRCm39) |
H262L |
probably damaging |
Het |
Or5m13 |
T |
A |
2: 85,748,480 (GRCm39) |
D70E |
probably damaging |
Het |
Or8k36-ps1 |
T |
A |
2: 86,437,364 (GRCm39) |
I184F |
unknown |
Het |
Or9m1 |
T |
C |
2: 87,733,915 (GRCm39) |
Y35C |
probably damaging |
Het |
Pafah1b3 |
C |
T |
7: 24,994,764 (GRCm39) |
R98Q |
probably damaging |
Het |
Pde6b |
A |
T |
5: 108,571,357 (GRCm39) |
K437* |
probably null |
Het |
Ppp1r12b |
A |
T |
1: 134,762,130 (GRCm39) |
|
probably benign |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Pramel34 |
T |
C |
5: 93,786,784 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,782,679 (GRCm39) |
Q104R |
possibly damaging |
Het |
Rgs22 |
A |
T |
15: 36,050,391 (GRCm39) |
|
probably null |
Het |
Rnf14 |
C |
T |
18: 38,441,441 (GRCm39) |
P277L |
probably damaging |
Het |
Robo4 |
T |
C |
9: 37,316,102 (GRCm39) |
S258P |
probably benign |
Het |
Sfrp1 |
T |
A |
8: 23,907,420 (GRCm39) |
F207I |
probably damaging |
Het |
Sgms1 |
A |
G |
19: 32,137,087 (GRCm39) |
S160P |
probably damaging |
Het |
Sil1 |
T |
C |
18: 35,402,755 (GRCm39) |
K263R |
probably benign |
Het |
St14 |
A |
G |
9: 31,008,847 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 75,955,905 (GRCm39) |
|
probably benign |
Het |
Tent5b |
C |
T |
4: 133,207,749 (GRCm39) |
R47W |
possibly damaging |
Het |
Tmem67 |
T |
C |
4: 12,070,471 (GRCm39) |
S352G |
probably benign |
Het |
Trib2 |
C |
A |
12: 15,843,795 (GRCm39) |
K282N |
possibly damaging |
Het |
Trnau1ap |
T |
C |
4: 132,054,482 (GRCm39) |
|
probably benign |
Het |
Trpm4 |
T |
C |
7: 44,958,054 (GRCm39) |
D952G |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,992,762 (GRCm39) |
N305D |
possibly damaging |
Het |
Usp32 |
A |
G |
11: 84,917,621 (GRCm39) |
V802A |
probably benign |
Het |
Vmn2r48 |
T |
A |
7: 9,676,251 (GRCm39) |
H410L |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,132,931 (GRCm39) |
N116S |
probably benign |
Het |
Wif1 |
A |
T |
10: 120,935,684 (GRCm39) |
H333L |
probably benign |
Het |
Zfp109 |
T |
C |
7: 23,928,162 (GRCm39) |
T416A |
possibly damaging |
Het |
Zfp808 |
T |
A |
13: 62,320,444 (GRCm39) |
C558S |
probably damaging |
Het |
Zpbp |
T |
C |
11: 11,409,734 (GRCm39) |
D116G |
possibly 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 |
|
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 |
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'- TTCGTCACAGTGAGCCTGAAG -3'
(R):5'- AGTCTCAGATCCGAGTACTTTG -3'
Sequencing Primer
(F):5'- GCAGGACAGAGGTACAGATGTC -3'
(R):5'- TGAAGTCCAGGGTTCAACTC -3'
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Posted On |
2016-06-06 |