Incidental Mutation 'R5215:Tbc1d2'
ID |
403400 |
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 |
042788-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R5215 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 46614006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 692
(V692L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
|
AlphaFold |
B1AVH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084621
AA Change: V692L
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000081670 Gene: ENSMUSG00000039813 AA Change: V692L
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 |
|
Meta Mutation Damage Score |
0.3642 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alas1 |
C |
A |
9: 106,120,574 (GRCm39) |
A73S |
probably benign |
Het |
Aldoart2 |
G |
A |
12: 55,612,204 (GRCm39) |
R43Q |
probably benign |
Het |
Ano4 |
T |
C |
10: 89,153,165 (GRCm39) |
H49R |
possibly damaging |
Het |
Atic |
T |
C |
1: 71,603,666 (GRCm39) |
S161P |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,341,659 (GRCm39) |
E244G |
probably benign |
Het |
Cd164l2 |
C |
A |
4: 132,948,789 (GRCm39) |
L42I |
unknown |
Het |
Cdc42ep2 |
T |
C |
19: 5,968,238 (GRCm39) |
R156G |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cdk5 |
T |
A |
5: 24,624,459 (GRCm39) |
N265I |
probably benign |
Het |
Cfap69 |
G |
T |
5: 5,639,133 (GRCm39) |
N262K |
possibly damaging |
Het |
Chd6 |
C |
T |
2: 160,791,873 (GRCm39) |
V2495M |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,205,539 (GRCm39) |
F521I |
possibly damaging |
Het |
Crb2 |
A |
G |
2: 37,683,765 (GRCm39) |
E1089G |
probably benign |
Het |
Decr1 |
T |
C |
4: 15,929,795 (GRCm39) |
D166G |
probably damaging |
Het |
Dhodh |
G |
A |
8: 110,332,975 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
G |
A |
5: 139,147,632 (GRCm39) |
V399I |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,121,096 (GRCm39) |
T526A |
probably benign |
Het |
Drosha |
T |
C |
15: 12,885,219 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
T |
A |
15: 78,558,401 (GRCm39) |
I49F |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,655 (GRCm39) |
T152A |
probably damaging |
Het |
Gigyf2 |
C |
A |
1: 87,292,988 (GRCm39) |
T85K |
probably damaging |
Het |
Gimap8 |
A |
T |
6: 48,628,017 (GRCm39) |
Y258F |
possibly damaging |
Het |
Glmn |
A |
G |
5: 107,709,752 (GRCm39) |
C351R |
probably benign |
Het |
Gm10032 |
T |
C |
14: 67,029,998 (GRCm39) |
|
noncoding transcript |
Het |
Gorasp2 |
G |
A |
2: 70,519,598 (GRCm39) |
A328T |
probably benign |
Het |
Grin1 |
A |
T |
2: 25,193,919 (GRCm39) |
H392Q |
probably benign |
Het |
Gzmn |
A |
G |
14: 56,405,319 (GRCm39) |
V55A |
probably damaging |
Het |
Herc4 |
T |
A |
10: 63,124,876 (GRCm39) |
S497T |
probably benign |
Het |
Hrc |
A |
T |
7: 44,985,515 (GRCm39) |
D222V |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,026,966 (GRCm39) |
H761R |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,076,480 (GRCm39) |
D2101E |
possibly damaging |
Het |
Kcng1 |
C |
T |
2: 168,105,053 (GRCm39) |
M264I |
probably benign |
Het |
Klra14-ps |
C |
A |
6: 130,134,646 (GRCm39) |
|
noncoding transcript |
Het |
Krtap5-3 |
T |
A |
7: 141,755,974 (GRCm39) |
C270* |
probably null |
Het |
Lama3 |
A |
G |
18: 12,710,957 (GRCm39) |
H3164R |
probably damaging |
Het |
Lcor |
T |
C |
19: 41,574,371 (GRCm39) |
I1042T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,741,418 (GRCm39) |
M3840T |
possibly damaging |
Het |
Mtor |
A |
T |
4: 148,538,440 (GRCm39) |
H166L |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,249,560 (GRCm39) |
N556D |
possibly damaging |
Het |
Oca2 |
A |
T |
7: 55,945,246 (GRCm39) |
R285* |
probably null |
Het |
Or12d13 |
T |
A |
17: 37,647,704 (GRCm39) |
I140F |
probably benign |
Het |
Or2at1 |
A |
G |
7: 99,416,717 (GRCm39) |
E116G |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,631 (GRCm39) |
|
noncoding transcript |
Het |
Or56a3b |
G |
A |
7: 104,775,771 (GRCm39) |
H246Y |
probably damaging |
Het |
Or8g33 |
A |
T |
9: 39,337,919 (GRCm39) |
Y149* |
probably null |
Het |
Pan3 |
A |
G |
5: 147,391,915 (GRCm39) |
|
probably null |
Het |
Pard3 |
G |
A |
8: 128,104,745 (GRCm39) |
V496M |
probably damaging |
Het |
Pdcd2l |
A |
T |
7: 33,892,314 (GRCm39) |
V185D |
possibly damaging |
Het |
Pgghg |
T |
C |
7: 140,526,477 (GRCm39) |
V623A |
possibly damaging |
Het |
Pigu |
C |
A |
2: 155,177,249 (GRCm39) |
|
probably benign |
Het |
Pkmyt1 |
G |
A |
17: 23,951,566 (GRCm39) |
R40Q |
probably benign |
Het |
Prag1 |
G |
A |
8: 36,567,043 (GRCm39) |
A65T |
probably benign |
Het |
Prkdc |
C |
A |
16: 15,589,985 (GRCm39) |
T2616N |
possibly damaging |
Het |
Prpf8 |
G |
A |
11: 75,391,030 (GRCm39) |
E1360K |
probably benign |
Het |
Ptprt |
C |
T |
2: 162,120,084 (GRCm39) |
V128M |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,462 (GRCm39) |
S1016L |
probably benign |
Het |
Rprd1a |
G |
T |
18: 24,621,257 (GRCm39) |
D307E |
probably damaging |
Het |
Slc11a1 |
A |
T |
1: 74,422,936 (GRCm39) |
|
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,457,386 (GRCm39) |
M209K |
probably damaging |
Het |
Slf2 |
T |
G |
19: 44,936,476 (GRCm39) |
L707R |
probably damaging |
Het |
Son |
T |
A |
16: 91,453,563 (GRCm39) |
M770K |
probably damaging |
Het |
Taf6l |
T |
C |
19: 8,755,417 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
C |
T |
6: 29,582,152 (GRCm39) |
|
probably benign |
Het |
Txndc16 |
A |
T |
14: 45,448,597 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,734,525 (GRCm39) |
K1125R |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,994,351 (GRCm39) |
S433P |
probably benign |
Het |
Zc3h12a |
A |
G |
4: 125,020,706 (GRCm39) |
S46P |
probably benign |
Het |
Zwilch |
T |
G |
9: 64,054,156 (GRCm39) |
I490L |
probably benign |
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 |
|
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'- AGACATTCTGCAGGAAGTGTG -3'
(R):5'- TAGCCAAGATCCAGGCCTTG -3'
Sequencing Primer
(F):5'- CATTCTGCAGGAAGTGTGGCAAG -3'
(R):5'- CTCAGCTGAGCTCAAGCAG -3'
|
Posted On |
2016-07-22 |