Incidental Mutation 'R6969:Tbc1d9'
| ID |
543386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
045079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R6969 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83968171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 424
(Y424C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: Y191C
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: Y191C
| 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: Y424C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: Y424C
| 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 |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,958,317 (GRCm39) |
L800H |
unknown |
Het |
| Ap2b1 |
T |
A |
11: 83,280,552 (GRCm39) |
D788E |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arhgap9 |
G |
A |
10: 127,162,512 (GRCm39) |
E348K |
probably benign |
Het |
| B4galnt2 |
A |
T |
11: 95,782,756 (GRCm39) |
F19I |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,211,039 (GRCm39) |
I551N |
probably damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,586,230 (GRCm39) |
*427Q |
probably null |
Het |
| Chd9 |
A |
C |
8: 91,705,542 (GRCm39) |
Q260P |
probably benign |
Het |
| Col16a1 |
A |
T |
4: 129,986,880 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 17,266,805 (GRCm39) |
N40K |
possibly damaging |
Het |
| Depdc5 |
T |
G |
5: 33,141,204 (GRCm39) |
V1368G |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,397,398 (GRCm39) |
P3943Q |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,076,141 (GRCm39) |
Q691R |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 183,801,085 (GRCm39) |
L284P |
probably damaging |
Het |
| Efr3b |
A |
G |
12: 4,018,624 (GRCm39) |
V574A |
probably benign |
Het |
| Erc2 |
A |
T |
14: 27,620,553 (GRCm39) |
I60F |
probably damaging |
Het |
| Exoc2 |
A |
G |
13: 31,095,161 (GRCm39) |
V245A |
probably benign |
Het |
| Fasl |
G |
T |
1: 161,609,244 (GRCm39) |
F37L |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,941,212 (GRCm39) |
P1360S |
probably benign |
Het |
| Gpsm1 |
C |
T |
2: 26,230,555 (GRCm39) |
P502S |
probably benign |
Het |
| Gtpbp10 |
C |
A |
5: 5,605,331 (GRCm39) |
G124V |
probably damaging |
Het |
| Insm2 |
T |
C |
12: 55,646,963 (GRCm39) |
C236R |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,929,468 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Irx6 |
A |
G |
8: 93,403,958 (GRCm39) |
E175G |
probably damaging |
Het |
| Kcnh8 |
C |
T |
17: 53,184,971 (GRCm39) |
R418* |
probably null |
Het |
| Kif3c |
G |
A |
12: 3,416,114 (GRCm39) |
R45Q |
probably benign |
Het |
| Larp7-ps |
A |
G |
4: 92,079,826 (GRCm39) |
I54T |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,630,862 (GRCm39) |
F12S |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,526,897 (GRCm39) |
T156S |
probably benign |
Het |
| Lrrc19 |
G |
T |
4: 94,527,610 (GRCm39) |
N200K |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,862,550 (GRCm39) |
H1296Y |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,212,578 (GRCm39) |
F661Y |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,351,593 (GRCm39) |
Y1893C |
probably benign |
Het |
| Mmd |
G |
C |
11: 90,148,362 (GRCm39) |
A15P |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,092 (GRCm39) |
F1903L |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,528,371 (GRCm39) |
L1072P |
probably damaging |
Het |
| Or13l2 |
A |
T |
3: 97,318,118 (GRCm39) |
Y126* |
probably null |
Het |
| Or56a41 |
T |
C |
7: 104,740,463 (GRCm39) |
I128V |
probably benign |
Het |
| Or5bw2 |
G |
A |
7: 6,573,320 (GRCm39) |
C110Y |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,495,886 (GRCm39) |
T18S |
possibly damaging |
Het |
| Patl2 |
A |
T |
2: 121,959,410 (GRCm39) |
V18D |
possibly damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,055 (GRCm39) |
S395G |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,219,413 (GRCm39) |
I726T |
possibly damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,968,209 (GRCm39) |
L187P |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,563,182 (GRCm39) |
E535V |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,827,657 (GRCm39) |
K598R |
probably benign |
Het |
| Rnf40 |
A |
G |
7: 127,195,495 (GRCm39) |
E607G |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,452,616 (GRCm39) |
T544A |
probably benign |
Het |
| Scaf1 |
C |
A |
7: 44,657,253 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,591,643 (GRCm39) |
M1018V |
probably benign |
Het |
| Shmt1 |
C |
T |
11: 60,695,153 (GRCm39) |
A54T |
probably damaging |
Het |
| Slc39a14 |
C |
A |
14: 70,546,275 (GRCm39) |
V383F |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,871,249 (GRCm39) |
T346A |
probably benign |
Het |
| Slco4a1 |
G |
A |
2: 180,106,601 (GRCm39) |
S261N |
probably benign |
Het |
| Smarcc1 |
C |
G |
9: 110,025,388 (GRCm39) |
S688R |
probably damaging |
Het |
| Sppl2b |
G |
A |
10: 80,700,959 (GRCm39) |
A314T |
probably damaging |
Het |
| Sptb |
A |
T |
12: 76,654,781 (GRCm39) |
V1513E |
probably damaging |
Het |
| Stx17 |
A |
T |
4: 48,140,462 (GRCm39) |
I56F |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,949 (GRCm39) |
K536E |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,644,329 (GRCm39) |
I309V |
possibly damaging |
Het |
| Tymp |
G |
A |
15: 89,258,251 (GRCm39) |
S334L |
probably benign |
Het |
| Unc13b |
T |
C |
4: 43,263,538 (GRCm39) |
F1587L |
possibly damaging |
Het |
| Vgf |
G |
T |
5: 137,060,507 (GRCm39) |
|
probably benign |
Het |
| Zfp59 |
T |
C |
7: 27,552,922 (GRCm39) |
S125P |
probably damaging |
Het |
| Zfp641 |
A |
T |
15: 98,188,448 (GRCm39) |
M144K |
possibly damaging |
Het |
| Zfp93 |
A |
T |
7: 23,974,806 (GRCm39) |
K264* |
probably null |
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 |
|
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'- CCTGGAACTTGGCTGTGTAG -3'
(R):5'- TTCTAATCCAGCAAGTTTCAGTGG -3'
Sequencing Primer
(F):5'- CTGGGATTATAGACTCAGGCCAC -3'
(R):5'- TTTCAGTGGACAGAAAAATGCACC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation