Incidental Mutation 'R6194:Tbc1d2'
| ID |
502774 |
| 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 |
044334-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6194 (G1)
|
| Quality Score |
225.009 |
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,033 (GRCm39) |
I90V |
probably benign |
Het |
| Afap1l2 |
T |
A |
19: 56,911,383 (GRCm39) |
R370S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,088,761 (GRCm39) |
Y537H |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Asap1 |
A |
G |
15: 64,001,058 (GRCm39) |
S508P |
probably damaging |
Het |
| Atg5 |
T |
C |
10: 44,170,612 (GRCm39) |
L86P |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,127,057 (GRCm39) |
P502S |
probably damaging |
Het |
| AW209491 |
T |
A |
13: 14,811,705 (GRCm39) |
I186K |
possibly damaging |
Het |
| Baz1b |
T |
C |
5: 135,272,744 (GRCm39) |
Y1354H |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,127,926 (GRCm39) |
S1157T |
unknown |
Het |
| Chil6 |
A |
G |
3: 106,312,192 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
A |
G |
2: 73,400,816 (GRCm39) |
V238A |
probably benign |
Het |
| Cluap1 |
A |
G |
16: 3,747,770 (GRCm39) |
S308G |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,602,061 (GRCm39) |
D1155G |
probably damaging |
Het |
| Cptp |
A |
G |
4: 155,951,098 (GRCm39) |
F123L |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,373,095 (GRCm39) |
I600V |
probably benign |
Het |
| Fbxw2 |
G |
A |
2: 34,697,416 (GRCm39) |
T317I |
probably damaging |
Het |
| Gc |
A |
T |
5: 89,589,438 (GRCm39) |
V197E |
probably benign |
Het |
| Gusb |
C |
T |
5: 130,018,906 (GRCm39) |
V577M |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,228 (GRCm39) |
N2400K |
probably damaging |
Het |
| Hnrnph1 |
T |
A |
11: 50,274,104 (GRCm39) |
D340E |
possibly damaging |
Het |
| Hs3st1 |
C |
A |
5: 39,771,748 (GRCm39) |
K298N |
probably damaging |
Het |
| Hunk |
A |
T |
16: 90,293,283 (GRCm39) |
T522S |
probably damaging |
Het |
| Ifit3 |
T |
C |
19: 34,565,027 (GRCm39) |
F191S |
probably benign |
Het |
| Ifnab |
T |
A |
4: 88,609,362 (GRCm39) |
K35* |
probably null |
Het |
| Ifnab |
G |
T |
4: 88,609,363 (GRCm39) |
N34K |
probably damaging |
Het |
| Ighmbp2 |
C |
A |
19: 3,312,003 (GRCm39) |
R917L |
possibly damaging |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,916 (GRCm39) |
A71V |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,901 (GRCm39) |
N377D |
probably damaging |
Het |
| Lim2 |
T |
A |
7: 43,085,086 (GRCm39) |
C159S |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,785,564 (GRCm39) |
Y147H |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,212,698 (GRCm39) |
L621P |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Mboat2 |
T |
A |
12: 24,996,637 (GRCm39) |
S213R |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,967,673 (GRCm39) |
C99* |
probably null |
Het |
| Myo9a |
A |
G |
9: 59,777,033 (GRCm39) |
I1144V |
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,370,721 (GRCm39) |
T612A |
probably benign |
Het |
| Naalad2 |
C |
T |
9: 18,262,443 (GRCm39) |
V362I |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,296,643 (GRCm39) |
I1178F |
possibly damaging |
Het |
| Nras |
C |
A |
3: 102,966,269 (GRCm39) |
A11E |
probably damaging |
Het |
| Or13f5 |
T |
A |
4: 52,825,779 (GRCm39) |
C127* |
probably null |
Het |
| Or56a3b |
G |
T |
7: 104,771,377 (GRCm39) |
V238L |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,199 (GRCm39) |
T112A |
probably damaging |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,625,624 (GRCm39) |
*519Q |
probably null |
Het |
| Prodh |
A |
T |
16: 17,890,381 (GRCm39) |
H515Q |
probably benign |
Het |
| Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
| Rbks |
T |
C |
5: 31,824,234 (GRCm39) |
E87G |
probably benign |
Het |
| Scyl1 |
G |
T |
19: 5,820,334 (GRCm39) |
Q167K |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,762 (GRCm39) |
D222E |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,638,172 (GRCm39) |
C199* |
probably null |
Het |
| Slx1b |
C |
T |
7: 126,291,503 (GRCm39) |
R187H |
possibly damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,693,083 (GRCm39) |
F348L |
probably damaging |
Het |
| Tfpt |
A |
T |
7: 3,632,026 (GRCm39) |
L28Q |
probably damaging |
Het |
| Trap1 |
G |
A |
16: 3,872,664 (GRCm39) |
T335M |
possibly damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,918,847 (GRCm39) |
F110I |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,551 (GRCm39) |
C329S |
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 |
|
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 |
|
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 |
|
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'- CTGAGTCAGCCTGGGTGG -3'
(R):5'- CTGAGGCCAGAGCTCTGC -3'
Sequencing Primer
(F):5'- CAGCCCCATGATAGGATTAGTGTC -3'
(R):5'- AGAGCTCTGCAGGCAGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation