Incidental Mutation 'R4467:Tbc1d9'
| ID |
329244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
041724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R4467 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83937107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 63
(Y63C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034145
AA Change: Y63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: Y63C
| 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: Y63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: Y63C
| 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 |
0.6799 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,366 (GRCm39) |
Y39* |
probably null |
Het |
| Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,953,606 (GRCm39) |
W260* |
probably null |
Het |
| Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,040,930 (GRCm39) |
W112R |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,085,566 (GRCm39) |
G80D |
probably benign |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,885,027 (GRCm39) |
D122G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
| Pih1d1 |
A |
G |
7: 44,807,921 (GRCm39) |
M132V |
possibly damaging |
Het |
| Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
| Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
| Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
| Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,158,372 (GRCm39) |
V557A |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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'- CTGACAAAGGCCAAGGTGTC -3'
(R):5'- CACCGTGTTAAGCCATCAAC -3'
Sequencing Primer
(F):5'- GGCCAAGGTGTCAAGGTG -3'
(R):5'- ACTTACCACAGGCAATGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation