Incidental Mutation 'R7026:Tbc1d9'
| ID |
545960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
045127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R7026 (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 83968192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 431
(V431A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: V198A
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: V198A
| 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: V431A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: V431A
| 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 |
0.0576 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,805,392 (GRCm39) |
M749L |
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,818,974 (GRCm39) |
N1321S |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,191,450 (GRCm39) |
V506E |
probably damaging |
Het |
| Add2 |
G |
A |
6: 86,063,965 (GRCm39) |
R88Q |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,118,083 (GRCm39) |
V1155A |
probably benign |
Het |
| Ahsg |
T |
A |
16: 22,710,963 (GRCm39) |
D33E |
probably damaging |
Het |
| Alox12b |
A |
T |
11: 69,048,131 (GRCm39) |
D20V |
possibly damaging |
Het |
| Alppl2 |
A |
G |
1: 87,017,420 (GRCm39) |
|
probably null |
Het |
| Ankfn1 |
A |
G |
11: 89,530,403 (GRCm39) |
*49Q |
probably null |
Het |
| Bcl11b |
T |
C |
12: 107,882,851 (GRCm39) |
D488G |
probably damaging |
Het |
| Bcl2l10 |
T |
A |
9: 75,258,364 (GRCm39) |
F175L |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,081,299 (GRCm39) |
D127E |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,614,732 (GRCm39) |
V1311I |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,316,427 (GRCm39) |
I374K |
probably benign |
Het |
| Cfap36 |
T |
C |
11: 29,172,565 (GRCm39) |
T267A |
probably benign |
Het |
| Cibar2 |
G |
A |
8: 120,895,324 (GRCm39) |
H193Y |
probably damaging |
Het |
| Cog1 |
T |
C |
11: 113,540,415 (GRCm39) |
L10P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,543,448 (GRCm39) |
M2241L |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,479,504 (GRCm39) |
A1809E |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,967,156 (GRCm39) |
D255E |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,251,728 (GRCm39) |
F123L |
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,617,146 (GRCm39) |
K118N |
possibly damaging |
Het |
| Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
| Get4 |
C |
T |
5: 139,238,358 (GRCm39) |
R47W |
possibly damaging |
Het |
| Gm3676 |
G |
A |
14: 41,366,072 (GRCm39) |
S81F |
probably benign |
Het |
| Gulp1 |
C |
T |
1: 44,820,245 (GRCm39) |
P251S |
possibly damaging |
Het |
| Hhatl |
T |
C |
9: 121,617,339 (GRCm39) |
D298G |
probably benign |
Het |
| Hsf2bp |
T |
A |
17: 32,252,254 (GRCm39) |
K60N |
possibly damaging |
Het |
| Ints4 |
T |
A |
7: 97,168,361 (GRCm39) |
V625D |
possibly damaging |
Het |
| Iqch |
T |
A |
9: 63,432,421 (GRCm39) |
K286* |
probably null |
Het |
| Irak1bp1 |
T |
A |
9: 82,712,084 (GRCm39) |
S2T |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,955,517 (GRCm39) |
V1135I |
possibly damaging |
Het |
| Lama3 |
C |
A |
18: 12,649,605 (GRCm39) |
N181K |
probably damaging |
Het |
| Lrfn2 |
T |
G |
17: 49,404,005 (GRCm39) |
S709R |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,743,566 (GRCm39) |
H123R |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,159,234 (GRCm39) |
S1569P |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,352,131 (GRCm39) |
Q635P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 24,998,381 (GRCm39) |
|
probably null |
Het |
| Mctp1 |
A |
G |
13: 76,954,378 (GRCm39) |
T596A |
probably benign |
Het |
| Mroh9 |
T |
A |
1: 162,888,251 (GRCm39) |
M275L |
probably benign |
Het |
| Ms4a10 |
A |
C |
19: 10,944,869 (GRCm39) |
|
probably null |
Het |
| Myo9a |
C |
T |
9: 59,722,617 (GRCm39) |
R560C |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,918,716 (GRCm39) |
I125T |
probably damaging |
Het |
| Or5b107 |
A |
G |
19: 13,142,779 (GRCm39) |
T134A |
probably benign |
Het |
| Or6z1 |
T |
A |
7: 6,504,820 (GRCm39) |
H135L |
probably damaging |
Het |
| Ormdl3 |
A |
G |
11: 98,474,808 (GRCm39) |
V45A |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,858,049 (GRCm39) |
Y894H |
probably benign |
Het |
| Pigo |
G |
A |
4: 43,023,380 (GRCm39) |
Q259* |
probably null |
Het |
| Prrc2a |
G |
A |
17: 35,380,803 (GRCm39) |
P70S |
unknown |
Het |
| Rab3ip |
A |
G |
10: 116,773,441 (GRCm39) |
I124T |
probably benign |
Het |
| Rap1b |
A |
G |
10: 117,654,384 (GRCm39) |
I21T |
probably benign |
Het |
| Rasgrf2 |
T |
A |
13: 92,131,732 (GRCm39) |
S642C |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,535,539 (GRCm39) |
E106G |
probably benign |
Het |
| Reps1 |
C |
A |
10: 17,983,437 (GRCm39) |
R427S |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,370,481 (GRCm39) |
H4760P |
possibly damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,595 (GRCm39) |
I748T |
probably damaging |
Het |
| Sco1 |
A |
T |
11: 66,944,683 (GRCm39) |
K102M |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,362,281 (GRCm39) |
M44T |
possibly damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,898,139 (GRCm39) |
M297T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,656,662 (GRCm39) |
H1935R |
probably benign |
Het |
| Sowaha |
G |
A |
11: 53,370,050 (GRCm39) |
R229W |
probably damaging |
Het |
| Sptlc3 |
A |
T |
2: 139,379,608 (GRCm39) |
M83L |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,712,214 (GRCm39) |
E217G |
possibly damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,562 (GRCm39) |
L193* |
probably null |
Het |
| Trp53bp2 |
T |
C |
1: 182,270,300 (GRCm39) |
S367P |
probably benign |
Het |
| Tsc2 |
T |
G |
17: 24,845,713 (GRCm39) |
I202L |
probably damaging |
Het |
| Twf2 |
T |
A |
9: 106,092,079 (GRCm39) |
V312E |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,311,622 (GRCm39) |
L471F |
probably damaging |
Het |
| Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
probably damaging |
Het |
| Zfp1010 |
T |
A |
2: 176,957,361 (GRCm39) |
I46F |
probably benign |
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 |
|
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'- CCTGGAACTTGGCTGTGTAG -3'
(R):5'- TAATCCAGCAAGTTTCAGTGGACAG -3'
Sequencing Primer
(F):5'- CTGGAATTATGACTTTGCCCCAGAG -3'
(R):5'- TTTCAGTGGACAGAAAAATGCACC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation