Incidental Mutation 'IGL01067:Tbc1d9'
| ID |
51714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL01067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83960791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 214
(T214A)
|
| 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: T214A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: T214A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| A330008L17Rik |
T |
C |
8: 100,148,586 (GRCm39) |
|
noncoding transcript |
Het |
| Acp4 |
C |
T |
7: 43,902,876 (GRCm39) |
V331I |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,629,807 (GRCm39) |
V128A |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,686,026 (GRCm39) |
K280E |
probably damaging |
Het |
| Bfar |
T |
C |
16: 13,503,105 (GRCm39) |
C36R |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,128 (GRCm39) |
I311T |
probably damaging |
Het |
| Cd300c |
T |
C |
11: 114,851,253 (GRCm39) |
|
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,383,096 (GRCm39) |
E513V |
probably damaging |
Het |
| Clip1 |
C |
A |
5: 123,768,867 (GRCm39) |
K612N |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,056,411 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,959,572 (GRCm39) |
|
probably null |
Het |
| Dph6 |
A |
T |
2: 114,478,290 (GRCm39) |
M17K |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,042 (GRCm39) |
Q177R |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,262,958 (GRCm39) |
H800R |
probably damaging |
Het |
| Fastkd2 |
T |
G |
1: 63,776,930 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
A |
T |
1: 170,795,622 (GRCm39) |
N102K |
possibly damaging |
Het |
| Fezf1 |
C |
T |
6: 23,247,842 (GRCm39) |
V78I |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,330,885 (GRCm39) |
D425V |
unknown |
Het |
| Fnta |
G |
A |
8: 26,497,229 (GRCm39) |
Q207* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,190,828 (GRCm39) |
V33D |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,821 (GRCm39) |
C619Y |
possibly damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,358 (GRCm39) |
|
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,629 (GRCm39) |
V193A |
possibly damaging |
Het |
| Il4ra |
A |
G |
7: 125,174,333 (GRCm39) |
T292A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,818,336 (GRCm39) |
|
probably benign |
Het |
| Marveld3 |
G |
T |
8: 110,688,596 (GRCm39) |
D48E |
possibly damaging |
Het |
| Meox1 |
A |
T |
11: 101,784,599 (GRCm39) |
I78N |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,283,354 (GRCm39) |
H444Q |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,340,466 (GRCm39) |
Q784R |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,714 (GRCm39) |
I107M |
probably benign |
Het |
| Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,445 (GRCm39) |
|
probably benign |
Het |
| Plk1 |
G |
A |
7: 121,768,148 (GRCm39) |
R456H |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,638,840 (GRCm39) |
I65F |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,977,922 (GRCm39) |
I196F |
probably damaging |
Het |
| Qsox2 |
T |
C |
2: 26,118,408 (GRCm39) |
N121S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,184,664 (GRCm39) |
L1617S |
probably damaging |
Het |
| Rragc |
T |
C |
4: 123,823,761 (GRCm39) |
F345L |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,407,605 (GRCm39) |
E240D |
possibly damaging |
Het |
| Shcbp1l |
A |
C |
1: 153,311,770 (GRCm39) |
S308R |
possibly damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,520,804 (GRCm39) |
C224* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,722,999 (GRCm39) |
E567G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,088,201 (GRCm39) |
N1417K |
possibly damaging |
Het |
| Tjp3 |
C |
A |
10: 81,109,699 (GRCm39) |
V835L |
probably benign |
Het |
| Trpc4 |
C |
A |
3: 54,129,983 (GRCm39) |
Q250K |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,506 (GRCm39) |
I25129N |
probably damaging |
Het |
| Ube4a |
T |
A |
9: 44,856,163 (GRCm39) |
Y523F |
probably damaging |
Het |
| Zfp971 |
G |
A |
2: 177,665,175 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tbc1d9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation