Incidental Mutation 'R2082:Tbc1d9'
| ID |
230080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
040087-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R2082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83997616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 1058
(S1058C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: S825C
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: S825C
| 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: S1058C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: S1058C
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211568
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,686,391 (GRCm39) |
|
probably null |
Het |
| 4933427I04Rik |
A |
G |
4: 123,754,769 (GRCm39) |
I228V |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,797,896 (GRCm39) |
W657R |
possibly damaging |
Het |
| Acsm2 |
T |
A |
7: 119,179,857 (GRCm39) |
H333Q |
probably benign |
Het |
| Adamts18 |
C |
T |
8: 114,501,965 (GRCm39) |
V299I |
probably damaging |
Het |
| Adat2 |
G |
A |
10: 13,435,907 (GRCm39) |
C84Y |
probably damaging |
Het |
| Arhgef11 |
C |
T |
3: 87,633,303 (GRCm39) |
T690I |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,860,155 (GRCm39) |
D1242G |
probably damaging |
Het |
| Casp14 |
A |
G |
10: 78,550,867 (GRCm39) |
M106T |
probably benign |
Het |
| Ccdc69 |
T |
A |
11: 54,943,215 (GRCm39) |
I130F |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,599,513 (GRCm39) |
L189P |
probably damaging |
Het |
| Cfhr1 |
C |
T |
1: 139,478,624 (GRCm39) |
V249I |
possibly damaging |
Het |
| Chst1 |
T |
C |
2: 92,444,335 (GRCm39) |
V269A |
possibly damaging |
Het |
| Col18a1 |
G |
T |
10: 76,895,127 (GRCm39) |
P1178Q |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,545,430 (GRCm39) |
L1014P |
probably damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,751 (GRCm39) |
Y188C |
probably damaging |
Het |
| Dse |
G |
A |
10: 34,031,936 (GRCm39) |
R363C |
probably damaging |
Het |
| Exoc5 |
T |
C |
14: 49,253,044 (GRCm39) |
I525V |
probably benign |
Het |
| Fech |
A |
T |
18: 64,591,260 (GRCm39) |
I388N |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,082,851 (GRCm39) |
L363P |
probably damaging |
Het |
| Gm10842 |
T |
A |
11: 105,037,909 (GRCm39) |
L64Q |
unknown |
Het |
| Gm8225 |
C |
A |
17: 26,762,670 (GRCm39) |
P287Q |
possibly damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,261 (GRCm39) |
L512H |
probably damaging |
Het |
| Ifi30 |
T |
C |
8: 71,216,373 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,671,556 (GRCm39) |
D115E |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,411,577 (GRCm39) |
L174H |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,279,701 (GRCm39) |
V153A |
probably damaging |
Het |
| Krt18 |
G |
A |
15: 101,939,455 (GRCm39) |
|
probably null |
Het |
| Micu1 |
A |
G |
10: 59,699,129 (GRCm39) |
T469A |
probably benign |
Het |
| Mtss2 |
T |
C |
8: 111,452,889 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
A |
15: 25,786,079 (GRCm39) |
F1253L |
probably damaging |
Het |
| N4bp2 |
A |
T |
5: 65,964,908 (GRCm39) |
T986S |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,440,852 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
G |
A |
4: 152,643,821 (GRCm39) |
V1117M |
probably benign |
Het |
| Oca2 |
C |
A |
7: 55,946,885 (GRCm39) |
Q305K |
probably benign |
Het |
| Or56b34 |
C |
T |
7: 104,937,710 (GRCm39) |
Q137* |
probably null |
Het |
| Or5k3 |
T |
A |
16: 58,969,248 (GRCm39) |
F12I |
probably damaging |
Het |
| Or7g27 |
G |
A |
9: 19,250,574 (GRCm39) |
V273I |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,782,158 (GRCm39) |
N8Y |
possibly damaging |
Het |
| Pag1 |
A |
T |
3: 9,764,545 (GRCm39) |
S203T |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,439 (GRCm39) |
|
probably null |
Het |
| Pip4k2c |
T |
C |
10: 127,034,958 (GRCm39) |
D414G |
probably damaging |
Het |
| Pkp1 |
T |
G |
1: 135,812,714 (GRCm39) |
Q329P |
possibly damaging |
Het |
| Polrmt |
A |
T |
10: 79,579,346 (GRCm39) |
I135N |
probably benign |
Het |
| Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,558,746 (GRCm39) |
T439A |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,533,827 (GRCm39) |
Y1555C |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,553,774 (GRCm39) |
D859G |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,619,002 (GRCm39) |
M510K |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,461,335 (GRCm39) |
E379G |
probably benign |
Het |
| Slc30a5 |
C |
A |
13: 100,943,041 (GRCm39) |
|
probably null |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,191,488 (GRCm39) |
L982P |
possibly damaging |
Het |
| Tmem101 |
G |
T |
11: 102,044,203 (GRCm39) |
T228K |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,728,135 (GRCm39) |
K441N |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,794,222 (GRCm39) |
I228N |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,921,338 (GRCm39) |
I692N |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,230 (GRCm39) |
S665P |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,910,892 (GRCm39) |
V3552A |
possibly damaging |
Het |
| Vps35 |
A |
T |
8: 85,990,094 (GRCm39) |
M638K |
possibly damaging |
Het |
| Vps41 |
T |
G |
13: 19,036,521 (GRCm39) |
I645S |
probably benign |
Het |
| Zfp703 |
T |
C |
8: 27,469,016 (GRCm39) |
S227P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAGAGCATTTCCCGGGG -3'
(R):5'- TCCTTGGTGTCATCATCGGAG -3'
Sequencing Primer
(F):5'- CATTTCCCGGGGGCTTTGAG -3'
(R):5'- ACTGTCCACTGCCAGGCTAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation