Incidental Mutation 'R2920:Tbc1d9'
ID |
255476 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
040505-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R2920 (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 83937098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 60
(V60A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
AlphaFold |
Q3UYK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034145
AA Change: V60A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034145 Gene: ENSMUSG00000031709 AA Change: V60A
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: V60A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: V60A
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 |
0.1349 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,265,987 (GRCm39) |
Y1025H |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,596,984 (GRCm39) |
A4122T |
probably benign |
Het |
Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
Atp2b3 |
A |
C |
X: 72,577,526 (GRCm39) |
T318P |
probably benign |
Het |
Atrx |
A |
T |
X: 104,874,474 (GRCm39) |
V1962D |
probably benign |
Het |
Chl1 |
C |
A |
6: 103,672,304 (GRCm39) |
T531K |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,543,614 (GRCm39) |
D405V |
probably benign |
Het |
Clca3b |
C |
T |
3: 144,552,692 (GRCm39) |
D115N |
probably benign |
Het |
Comtd1 |
A |
G |
14: 21,897,686 (GRCm39) |
L149P |
possibly damaging |
Het |
Cops7a |
A |
G |
6: 124,939,325 (GRCm39) |
V108A |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,936,946 (GRCm39) |
V343A |
probably damaging |
Het |
Edrf1 |
T |
A |
7: 133,269,301 (GRCm39) |
D1109E |
probably benign |
Het |
Elmo3 |
A |
G |
8: 106,034,691 (GRCm39) |
E359G |
possibly damaging |
Het |
Ep400 |
C |
A |
5: 110,903,780 (GRCm39) |
G273V |
probably damaging |
Het |
Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
Glb1l |
T |
A |
1: 75,185,834 (GRCm39) |
E31D |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
Il12rb2 |
C |
T |
6: 67,337,552 (GRCm39) |
V110I |
probably damaging |
Het |
Ints3 |
T |
C |
3: 90,300,469 (GRCm39) |
E884G |
probably benign |
Het |
Lin7b |
A |
G |
7: 45,017,821 (GRCm39) |
V170A |
possibly damaging |
Het |
Lrch2 |
A |
T |
X: 146,256,026 (GRCm39) |
V750E |
probably damaging |
Het |
Mepe |
C |
T |
5: 104,486,113 (GRCm39) |
R418C |
probably damaging |
Het |
Mettl25 |
A |
T |
10: 105,601,038 (GRCm39) |
|
probably null |
Het |
Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo10 |
G |
T |
15: 25,801,226 (GRCm39) |
V1472L |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,778,501 (GRCm39) |
K445R |
probably damaging |
Het |
Ntng2 |
T |
C |
2: 29,094,223 (GRCm39) |
M383V |
probably benign |
Het |
Or13n4 |
C |
T |
7: 106,423,571 (GRCm39) |
R54Q |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,403 (GRCm39) |
Y124C |
probably damaging |
Het |
Or7a37 |
A |
C |
10: 78,805,846 (GRCm39) |
D121A |
probably damaging |
Het |
Pak6 |
A |
T |
2: 118,524,488 (GRCm39) |
|
probably benign |
Het |
Pcdh8 |
G |
T |
14: 80,006,154 (GRCm39) |
P803Q |
possibly damaging |
Het |
Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,010,400 (GRCm39) |
E203G |
probably benign |
Het |
Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
Slc14a2 |
G |
T |
18: 78,201,512 (GRCm39) |
S669* |
probably null |
Het |
Slc38a7 |
A |
G |
8: 96,572,571 (GRCm39) |
I157T |
possibly damaging |
Het |
Slc4a5 |
T |
C |
6: 83,241,369 (GRCm39) |
L215P |
probably damaging |
Het |
Tcerg1l |
T |
C |
7: 137,850,108 (GRCm39) |
R422G |
probably damaging |
Het |
Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
Vmn1r19 |
A |
T |
6: 57,381,909 (GRCm39) |
N154I |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,060,973 (GRCm39) |
I204L |
probably benign |
Het |
Zbtb1 |
T |
A |
12: 76,432,619 (GRCm39) |
S202T |
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 |
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 |
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'- AATGTAGAGCCCGAGTCCTG -3'
(R):5'- CGTAACCTGACAAAAGACTGAG -3'
Sequencing Primer
(F):5'- AGCCCGAGTCCTGTAAGATG -3'
(R):5'- GACTTACCACAGGCAATG -3'
|
Posted On |
2014-12-29 |