Incidental Mutation 'R4804:Tbc1d9'
| ID |
370547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
041998-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R4804 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 83982554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000034145]
[ENSMUST00000093393]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000093393
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000093393
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142673
|
| Meta Mutation Damage Score |
0.9486 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
T |
C |
1: 178,103,675 (GRCm39) |
|
noncoding transcript |
Het |
| Ap4e1 |
T |
C |
2: 126,885,678 (GRCm39) |
|
probably null |
Het |
| Apbb1ip |
T |
C |
2: 22,713,610 (GRCm39) |
|
probably null |
Het |
| Apol11b |
T |
A |
15: 77,519,466 (GRCm39) |
I205F |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,728,775 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
G |
9: 31,758,108 (GRCm39) |
S277P |
unknown |
Het |
| BC035947 |
T |
G |
1: 78,474,513 (GRCm39) |
D673A |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,564,206 (GRCm39) |
I930F |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,292 (GRCm39) |
V63A |
possibly damaging |
Het |
| Cdk8 |
A |
G |
5: 146,233,209 (GRCm39) |
K236E |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,969,389 (GRCm39) |
L449P |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,822,154 (GRCm39) |
D1721G |
possibly damaging |
Het |
| Chtf18 |
T |
C |
17: 25,938,231 (GRCm39) |
D934G |
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,172,150 (GRCm39) |
L271Q |
probably damaging |
Het |
| Cnnm1 |
C |
A |
19: 43,480,014 (GRCm39) |
T853N |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,865,579 (GRCm39) |
V103A |
probably damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,786,996 (GRCm39) |
|
probably null |
Het |
| Ddx39a |
A |
G |
8: 84,447,724 (GRCm39) |
K190E |
probably damaging |
Het |
| Dgkg |
G |
A |
16: 22,393,943 (GRCm39) |
|
probably benign |
Het |
| Dnajc14 |
A |
T |
10: 128,649,926 (GRCm39) |
H477L |
probably benign |
Het |
| Dytn |
A |
G |
1: 63,682,525 (GRCm39) |
V374A |
probably benign |
Het |
| Gfra2 |
T |
C |
14: 71,163,361 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Grik1 |
A |
G |
16: 87,754,457 (GRCm39) |
I376T |
probably damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,890 (GRCm39) |
T231S |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,480,570 (GRCm39) |
S499P |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,794,948 (GRCm39) |
I511V |
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,647 (GRCm39) |
D361G |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,400 (GRCm39) |
V60A |
probably benign |
Het |
| Ipo4 |
G |
C |
14: 55,868,313 (GRCm39) |
R495G |
possibly damaging |
Het |
| Kat2b-ps |
A |
T |
5: 93,540,392 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mblac2 |
T |
A |
13: 81,898,428 (GRCm39) |
L268* |
probably null |
Het |
| Mipep |
C |
T |
14: 61,040,401 (GRCm39) |
T307I |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,281,404 (GRCm39) |
S385P |
possibly damaging |
Het |
| Myh2 |
T |
A |
11: 67,077,328 (GRCm39) |
I821N |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,152,306 (GRCm39) |
I65F |
probably damaging |
Het |
| Neurog1 |
A |
G |
13: 56,399,579 (GRCm39) |
L56P |
probably benign |
Het |
| Nrsn1 |
C |
A |
13: 25,437,580 (GRCm39) |
C116F |
probably benign |
Het |
| Nscme3l |
A |
T |
19: 5,553,028 (GRCm39) |
M251K |
possibly damaging |
Het |
| Nynrin |
T |
C |
14: 56,102,326 (GRCm39) |
V665A |
probably benign |
Het |
| Or10w1 |
A |
G |
19: 13,631,882 (GRCm39) |
M30V |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,175 (GRCm39) |
Y104* |
probably null |
Het |
| Or5ak20 |
T |
C |
2: 85,183,425 (GRCm39) |
I282V |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,854,688 (GRCm39) |
S67P |
probably benign |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,231 (GRCm39) |
S348L |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,976 (GRCm39) |
I932T |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,827,228 (GRCm39) |
T486I |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,126,025 (GRCm39) |
M1115K |
possibly damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,631,828 (GRCm39) |
W173R |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,338,239 (GRCm39) |
C900S |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,731,983 (GRCm39) |
V2319A |
probably damaging |
Het |
| Scnn1g |
AATCCTGCAGGTGA |
AA |
7: 121,362,303 (GRCm39) |
|
probably null |
Het |
| Slc25a13 |
A |
T |
6: 6,109,213 (GRCm39) |
L383H |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,950,383 (GRCm39) |
P325L |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,029,882 (GRCm39) |
N162S |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,299,310 (GRCm39) |
Q982K |
possibly damaging |
Het |
| Tbc1d31 |
C |
T |
15: 57,814,502 (GRCm39) |
Q568* |
probably null |
Het |
| Tbx3 |
A |
G |
5: 119,818,577 (GRCm39) |
D384G |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,309,533 (GRCm39) |
I14V |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,943,076 (GRCm39) |
V588E |
probably benign |
Het |
| Tpk1 |
A |
C |
6: 43,570,012 (GRCm39) |
|
probably benign |
Het |
| Tspear |
A |
T |
10: 77,612,791 (GRCm39) |
|
probably null |
Het |
| Ubxn10 |
G |
T |
4: 138,448,515 (GRCm39) |
Q54K |
possibly damaging |
Het |
| Ubxn4 |
C |
T |
1: 128,194,141 (GRCm39) |
R312* |
probably null |
Het |
| Vmn1r230 |
A |
T |
17: 21,067,345 (GRCm39) |
K178M |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,687,976 (GRCm39) |
V445I |
probably damaging |
Het |
| Zfp688 |
C |
A |
7: 127,021,057 (GRCm39) |
W40C |
probably 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 |
|
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'- TTCGTTCCTAGTGACAGCTG -3'
(R):5'- CATCTGTAAAGGTCCTGGCCAG -3'
Sequencing Primer
(F):5'- ACAGCTGGTTTGTATCTCGTCTAAG -3'
(R):5'- GTCGAATGACCCTTTCACAGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation