Incidental Mutation 'R5908:Tbc1d9'
| ID |
460789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
044105-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5908 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83976174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 578
(M578L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: M345L
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: M345L
| 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: M578L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: M578L
| 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 |
0.0602 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.8%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,624,730 (GRCm39) |
L198H |
probably damaging |
Het |
| Anks1 |
C |
T |
17: 28,214,993 (GRCm39) |
T480I |
probably damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,503,165 (GRCm39) |
R857Q |
probably damaging |
Het |
| B230208B08Rik |
A |
G |
4: 78,132,297 (GRCm39) |
|
noncoding transcript |
Het |
| B9d2 |
T |
A |
7: 25,382,724 (GRCm39) |
W33R |
probably damaging |
Het |
| Bcl2a1c |
A |
G |
9: 114,159,572 (GRCm39) |
T117A |
probably benign |
Het |
| Btbd8 |
T |
G |
5: 107,655,460 (GRCm39) |
D574E |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,557,366 (GRCm39) |
S1091P |
probably damaging |
Het |
| Clip3 |
C |
A |
7: 29,996,298 (GRCm39) |
D64E |
probably damaging |
Het |
| Col6a5 |
C |
G |
9: 105,740,000 (GRCm39) |
D2540H |
possibly damaging |
Het |
| Commd5 |
A |
T |
15: 76,785,136 (GRCm39) |
M178L |
probably benign |
Het |
| Crtc3 |
T |
A |
7: 80,245,542 (GRCm39) |
H361L |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,049,065 (GRCm39) |
L153Q |
possibly damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,926,817 (GRCm39) |
V189D |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,748,718 (GRCm39) |
A483V |
probably damaging |
Het |
| Foxo3 |
T |
C |
10: 42,072,583 (GRCm39) |
I645V |
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,506 (GRCm39) |
S196P |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,453,717 (GRCm39) |
|
probably null |
Het |
| Il36rn |
G |
T |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
A |
G |
11: 86,106,371 (GRCm39) |
|
probably null |
Het |
| Khnyn |
A |
G |
14: 56,124,523 (GRCm39) |
D259G |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,871,346 (GRCm39) |
Y2694* |
probably null |
Het |
| Map4k2 |
T |
C |
19: 6,401,346 (GRCm39) |
|
probably benign |
Het |
| Marchf10 |
C |
T |
11: 105,281,065 (GRCm39) |
V407I |
probably benign |
Het |
| Mast4 |
C |
A |
13: 102,874,764 (GRCm39) |
V1367F |
probably damaging |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,366 (GRCm39) |
S62T |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,039,392 (GRCm39) |
F801S |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,115,941 (GRCm39) |
S908P |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,031,239 (GRCm39) |
|
probably benign |
Het |
| Nr2e1 |
T |
C |
10: 42,448,765 (GRCm39) |
S158G |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,881,353 (GRCm39) |
I404V |
probably benign |
Het |
| Or13n4 |
T |
C |
7: 106,423,404 (GRCm39) |
T110A |
probably benign |
Het |
| Pik3c2g |
G |
A |
6: 139,714,436 (GRCm39) |
R196H |
|
Het |
| Pik3r3 |
A |
T |
4: 116,129,955 (GRCm39) |
D213V |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,374,501 (GRCm39) |
S27T |
possibly damaging |
Het |
| Pkp1 |
G |
A |
1: 135,846,621 (GRCm39) |
Q44* |
probably null |
Het |
| Pnma8b |
C |
T |
7: 16,680,968 (GRCm39) |
R651C |
unknown |
Het |
| Pnpt1 |
T |
A |
11: 29,080,887 (GRCm39) |
S44T |
probably benign |
Het |
| Polb |
A |
T |
8: 23,132,319 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,165,984 (GRCm39) |
N85S |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,853,893 (GRCm39) |
K104E |
probably damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,040 (GRCm39) |
Y223F |
probably benign |
Het |
| Rbak |
T |
G |
5: 143,159,391 (GRCm39) |
H554P |
probably damaging |
Het |
| Serpina3c |
T |
C |
12: 104,117,970 (GRCm39) |
R123G |
probably benign |
Het |
| Sh3bp4 |
T |
G |
1: 89,073,605 (GRCm39) |
S818A |
probably damaging |
Het |
| Sh3rf3 |
C |
G |
10: 58,885,270 (GRCm39) |
H384Q |
probably benign |
Het |
| Slc9a8 |
C |
T |
2: 167,293,090 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,103,678 (GRCm39) |
E1181G |
probably benign |
Het |
| Taf2 |
G |
A |
15: 54,935,402 (GRCm39) |
|
probably benign |
Het |
| Taf7l2 |
A |
T |
10: 115,949,133 (GRCm39) |
I131N |
probably benign |
Het |
| Tinagl1 |
G |
T |
4: 130,066,763 (GRCm39) |
Y111* |
probably null |
Het |
| Tor2a |
T |
C |
2: 32,651,697 (GRCm39) |
L304P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,067,304 (GRCm39) |
V474A |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,723,518 (GRCm39) |
A325E |
probably damaging |
Het |
| Ube4a |
A |
G |
9: 44,859,322 (GRCm39) |
|
probably null |
Het |
| Use1 |
G |
C |
8: 71,822,257 (GRCm39) |
K239N |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,973,563 (GRCm39) |
Q407K |
probably benign |
Het |
| Zfp36l1 |
A |
T |
12: 80,156,449 (GRCm39) |
S311T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,374 (GRCm39) |
K964E |
probably benign |
Het |
| Zfp974 |
T |
A |
7: 27,610,382 (GRCm39) |
M448L |
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,374,214 (GRCm39) |
V600E |
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 |
|
|
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 |
|
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'- ATTGCTGTCTATAGCTGGATCAG -3'
(R):5'- GGTCTGATGCTGAATCTCGTC -3'
Sequencing Primer
(F):5'- CTGGATCAGCAGGATTTTAGCTTTC -3'
(R):5'- GATGCTGAATCTCGTCTGAATTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation