Incidental Mutation 'R5558:Tbc1d2'
| ID |
436390 |
| 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 |
043115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R5558 (G1)
|
| Quality Score |
151 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46629912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 252
(G252R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
[ENSMUST00000107750]
|
| AlphaFold |
B1AVH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084621
AA Change: G252R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: G252R
| 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 |
probably benign
Transcript: ENSMUST00000107750
|
| SMART Domains |
Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
C |
9: 44,192,705 (GRCm39) |
K177E |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,349,029 (GRCm39) |
T378A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,630,394 (GRCm39) |
V779A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,618,311 (GRCm39) |
Q2786* |
probably null |
Het |
| Arhgef28 |
A |
C |
13: 98,097,968 (GRCm39) |
L882R |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,775 (GRCm39) |
T447A |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,451,863 (GRCm39) |
W222R |
probably damaging |
Het |
| Chsy3 |
T |
G |
18: 59,309,469 (GRCm39) |
S241A |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,541,749 (GRCm39) |
S345P |
possibly damaging |
Het |
| Cyp4a30b |
C |
A |
4: 115,316,063 (GRCm39) |
D291E |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,622,936 (GRCm39) |
Y419C |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,846,047 (GRCm39) |
R359C |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,063,800 (GRCm39) |
G267V |
probably benign |
Het |
| Gars1 |
T |
C |
6: 55,042,592 (GRCm39) |
S442P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,516,764 (GRCm39) |
R578Q |
probably null |
Het |
| H4c4 |
C |
A |
13: 23,765,779 (GRCm39) |
N65K |
possibly damaging |
Het |
| Ifitm6 |
T |
C |
7: 140,595,985 (GRCm39) |
I103V |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,187,731 (GRCm39) |
I241N |
possibly damaging |
Het |
| Iqce |
A |
G |
5: 140,657,560 (GRCm39) |
|
probably null |
Het |
| Khdc4 |
A |
C |
3: 88,600,403 (GRCm39) |
H164P |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,928,949 (GRCm39) |
Q1192K |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,662,093 (GRCm39) |
N298D |
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,283,796 (GRCm39) |
S246T |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,444,355 (GRCm39) |
G330S |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,889,900 (GRCm39) |
R164C |
probably benign |
Het |
| Myo19 |
C |
G |
11: 84,801,274 (GRCm39) |
P940R |
probably damaging |
Het |
| Or10j7 |
T |
C |
1: 173,011,585 (GRCm39) |
R139G |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,751 (GRCm39) |
F169L |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,338,603 (GRCm39) |
D920G |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,801,815 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
T |
C |
4: 132,105,766 (GRCm39) |
E137G |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 84,411,351 (GRCm39) |
V239M |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,985,481 (GRCm39) |
D20V |
probably damaging |
Het |
| Prkca |
A |
T |
11: 107,872,473 (GRCm39) |
I429N |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,176,294 (GRCm39) |
Y251N |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,280,271 (GRCm39) |
F31S |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,642,003 (GRCm39) |
E932V |
probably damaging |
Het |
| Rilp |
A |
G |
11: 75,402,251 (GRCm39) |
Y250C |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,616,025 (GRCm39) |
I474T |
probably benign |
Het |
| Slc14a2 |
T |
A |
18: 78,202,381 (GRCm39) |
D583V |
possibly damaging |
Het |
| Slc30a4 |
A |
G |
2: 122,528,903 (GRCm39) |
I324T |
probably damaging |
Het |
| Slc6a5 |
G |
A |
7: 49,577,321 (GRCm39) |
V326I |
probably benign |
Het |
| Slco1c1 |
C |
T |
6: 141,513,222 (GRCm39) |
T617I |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,484,495 (GRCm39) |
S442P |
possibly damaging |
Het |
| Sys1 |
G |
T |
2: 164,306,429 (GRCm39) |
A128S |
possibly damaging |
Het |
| Tmed5 |
A |
G |
5: 108,272,462 (GRCm39) |
I212T |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,432,819 (GRCm39) |
M1V |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,968,492 (GRCm39) |
H452R |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,937 (GRCm39) |
V1133A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,395 (GRCm39) |
I30537F |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,024 (GRCm39) |
V3271A |
possibly damaging |
Het |
| Utp20 |
C |
G |
10: 88,587,329 (GRCm39) |
G2489R |
probably damaging |
Het |
| Vmn1r70 |
A |
T |
7: 10,368,402 (GRCm39) |
S278C |
probably benign |
Het |
| Wdpcp |
G |
A |
11: 21,661,732 (GRCm39) |
A335T |
probably benign |
Het |
| Zc3h18 |
G |
T |
8: 123,113,659 (GRCm39) |
R217L |
probably damaging |
Het |
| Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,521,161 (GRCm39) |
T210I |
possibly 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 |
|
R0374:Tbc1d2
|
UTSW |
4 |
46,649,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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'- CCTGAGTCAGCCTGGGTG -3'
(R):5'- TGAGGCCAGAGCTCTGCA -3'
Sequencing Primer
(F):5'- CAGCCCCATGATAGGATTAGTGTC -3'
(R):5'- AGAGCTCTGCAGGCAGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation