Incidental Mutation 'R0374:Tbc1d2'
| ID |
38506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2
|
| Ensembl Gene |
ENSMUSG00000039813 |
| Gene Name |
TBC1 domain family, member 2 |
| Synonyms |
PARIS-1, LOC381605, PARIS1, A630005A06Rik |
| MMRRC Submission |
038580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R0374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46649913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 41
(T41M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
[ENSMUST00000107750]
|
| AlphaFold |
B1AVH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084621
AA Change: T41M
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: T41M
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
44 |
143 |
1.94e-11 |
SMART |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
333 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
Blast:TBC
|
454 |
491 |
3e-14 |
BLAST |
|
low complexity region
|
526 |
539 |
N/A |
INTRINSIC |
|
Blast:TBC
|
557 |
591 |
3e-10 |
BLAST |
|
TBC
|
616 |
834 |
1.63e-60 |
SMART |
|
coiled coil region
|
869 |
906 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107750
AA Change: T41M
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813
AA Change: T41M
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
44 |
143 |
1.94e-11 |
SMART |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
A |
G |
7: 140,687,727 (GRCm39) |
I267T |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,896,654 (GRCm39) |
N168I |
probably benign |
Het |
| Apbb1ip |
A |
G |
2: 22,709,717 (GRCm39) |
|
probably benign |
Het |
| Aqr |
G |
A |
2: 113,961,092 (GRCm39) |
H723Y |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,721,357 (GRCm39) |
|
probably benign |
Het |
| Casp9 |
T |
A |
4: 141,534,484 (GRCm39) |
I298N |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,220,430 (GRCm39) |
E261G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,951,954 (GRCm39) |
Y376* |
probably null |
Het |
| Cped1 |
T |
A |
6: 22,222,545 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,601,073 (GRCm39) |
S563R |
possibly damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,490,637 (GRCm39) |
|
probably null |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,311,084 (GRCm39) |
T112A |
probably benign |
Het |
| Dusp1 |
A |
G |
17: 26,727,143 (GRCm39) |
V52A |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,875,634 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,288 (GRCm39) |
V86A |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,163,596 (GRCm39) |
C2087S |
possibly damaging |
Het |
| Fosb |
T |
G |
7: 19,041,075 (GRCm39) |
R139S |
probably damaging |
Het |
| Foxm1 |
C |
T |
6: 128,349,566 (GRCm39) |
R362W |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,561,381 (GRCm39) |
V1042A |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,280,802 (GRCm39) |
H401R |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,235 (GRCm39) |
|
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,251,758 (GRCm39) |
|
probably benign |
Het |
| H2-DMb1 |
T |
C |
17: 34,378,399 (GRCm39) |
V235A |
probably benign |
Het |
| Hr |
A |
G |
14: 70,793,916 (GRCm39) |
T59A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,260,890 (GRCm39) |
A588S |
probably benign |
Het |
| Kmt2c |
G |
A |
5: 25,514,706 (GRCm39) |
P3046S |
probably damaging |
Het |
| Lamc1 |
G |
A |
1: 153,126,811 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,260,651 (GRCm39) |
Y4527H |
probably damaging |
Het |
| Map3k2 |
G |
A |
18: 32,345,226 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Nfs1 |
C |
G |
2: 155,974,580 (GRCm39) |
G212R |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,340,054 (GRCm39) |
Y740F |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,185,772 (GRCm39) |
M859K |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,745,103 (GRCm39) |
F451S |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,505 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c6c |
G |
A |
10: 129,541,516 (GRCm39) |
M256I |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,278,720 (GRCm39) |
Y567H |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,100,796 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
A |
G |
5: 21,953,829 (GRCm39) |
D359G |
probably damaging |
Het |
| Poll |
T |
G |
19: 45,546,309 (GRCm39) |
S244R |
probably benign |
Het |
| Prkd3 |
T |
C |
17: 79,264,644 (GRCm39) |
D657G |
probably null |
Het |
| Prune2 |
G |
A |
19: 17,098,274 (GRCm39) |
M1259I |
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,379,541 (GRCm39) |
M329K |
probably damaging |
Het |
| Rbm10 |
GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
X: 20,503,798 (GRCm39) |
|
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,237,880 (GRCm39) |
D839E |
probably damaging |
Het |
| Sap30bp |
T |
A |
11: 115,855,103 (GRCm39) |
I271N |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,828,874 (GRCm39) |
C178S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,232,164 (GRCm39) |
|
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,949,306 (GRCm39) |
|
probably null |
Het |
| Shox2 |
A |
T |
3: 66,881,184 (GRCm39) |
H265Q |
probably damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,783,017 (GRCm39) |
F427S |
possibly damaging |
Het |
| Smarca5 |
T |
A |
8: 81,463,360 (GRCm39) |
Q69H |
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,084,293 (GRCm39) |
F672Y |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,298,969 (GRCm39) |
S105R |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,968,000 (GRCm39) |
R917* |
probably null |
Het |
| Tbx18 |
T |
A |
9: 87,606,408 (GRCm39) |
I246F |
probably damaging |
Het |
| Tcf4 |
T |
A |
18: 69,814,883 (GRCm39) |
|
probably benign |
Het |
| Tmed2 |
C |
A |
5: 124,679,502 (GRCm39) |
|
probably null |
Het |
| Tmem243 |
A |
T |
5: 9,151,361 (GRCm39) |
D15V |
possibly damaging |
Het |
| Vmn2r87 |
T |
A |
10: 130,307,848 (GRCm39) |
S797C |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,793,528 (GRCm39) |
|
probably benign |
Het |
| Wls |
T |
A |
3: 159,603,074 (GRCm39) |
C162* |
probably null |
Het |
| Zbtb7c |
C |
T |
18: 76,270,464 (GRCm39) |
T184I |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,546,405 (GRCm39) |
K169E |
probably damaging |
Het |
|
| Other mutations in Tbc1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Tbc1d2
|
APN |
4 |
46,649,745 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01748:Tbc1d2
|
APN |
4 |
46,616,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01863:Tbc1d2
|
APN |
4 |
46,607,064 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02014:Tbc1d2
|
APN |
4 |
46,649,778 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02025:Tbc1d2
|
APN |
4 |
46,620,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Tbc1d2
|
APN |
4 |
46,649,916 (GRCm39) |
missense |
probably benign |
|
|
IGL02571:Tbc1d2
|
APN |
4 |
46,628,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03149:Tbc1d2
|
APN |
4 |
46,637,619 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0347:Tbc1d2
|
UTSW |
4 |
46,620,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0522:Tbc1d2
|
UTSW |
4 |
46,649,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Tbc1d2
|
UTSW |
4 |
46,609,003 (GRCm39) |
nonsense |
probably null |
|
|
R1227:Tbc1d2
|
UTSW |
4 |
46,620,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1658:Tbc1d2
|
UTSW |
4 |
46,614,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Tbc1d2
|
UTSW |
4 |
46,606,419 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2108:Tbc1d2
|
UTSW |
4 |
46,637,652 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3864:Tbc1d2
|
UTSW |
4 |
46,620,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4475:Tbc1d2
|
UTSW |
4 |
46,609,080 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5112:Tbc1d2
|
UTSW |
4 |
46,606,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5127:Tbc1d2
|
UTSW |
4 |
46,633,639 (GRCm39) |
intron |
probably benign |
|
|
R5215:Tbc1d2
|
UTSW |
4 |
46,614,006 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5475:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5550:Tbc1d2
|
UTSW |
4 |
46,646,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5558:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5564:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5599:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5600:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5699:Tbc1d2
|
UTSW |
4 |
46,616,298 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5866:Tbc1d2
|
UTSW |
4 |
46,637,715 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5909:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5911:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5980:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6194:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6195:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6209:Tbc1d2
|
UTSW |
4 |
46,614,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6211:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6232:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6242:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6261:Tbc1d2
|
UTSW |
4 |
46,637,692 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6273:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6274:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6285:Tbc1d2
|
UTSW |
4 |
46,615,045 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6333:Tbc1d2
|
UTSW |
4 |
46,620,736 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6369:Tbc1d2
|
UTSW |
4 |
46,614,420 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6912:Tbc1d2
|
UTSW |
4 |
46,649,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Tbc1d2
|
UTSW |
4 |
46,649,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7775:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm39) |
splice site |
probably null |
|
|
R7824:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm39) |
splice site |
probably null |
|
|
R8069:Tbc1d2
|
UTSW |
4 |
46,649,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8135:Tbc1d2
|
UTSW |
4 |
46,609,071 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8203:Tbc1d2
|
UTSW |
4 |
46,606,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Tbc1d2
|
UTSW |
4 |
46,649,791 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8690:Tbc1d2
|
UTSW |
4 |
46,615,106 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9025:Tbc1d2
|
UTSW |
4 |
46,607,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Tbc1d2
|
UTSW |
4 |
46,609,029 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9622:Tbc1d2
|
UTSW |
4 |
46,609,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Tbc1d2
|
UTSW |
4 |
46,650,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Tbc1d2
|
UTSW |
4 |
46,615,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Tbc1d2
|
UTSW |
4 |
46,606,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d2
|
UTSW |
4 |
46,650,016 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCAAGGGGTTTGCATCCTG -3'
(R):5'- CTGCGCTGAGTTTGCTGTCAAG -3'
Sequencing Primer
(F):5'- AGAAGAACCAGCGGCATT -3'
(R):5'- GTGTCTAAGGCGCTCTCTC -3'
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| Posted On |
2013-05-23 |
Incidental Mutation