Incidental Mutation 'R5600:Tbc1d2'
ID |
438976 |
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 |
043152-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R5600 (G1)
|
Quality Score |
142 |
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: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol11b |
A |
C |
15: 77,519,288 (GRCm39) |
M264R |
probably damaging |
Het |
Asprv1 |
G |
T |
6: 86,606,044 (GRCm39) |
E297* |
probably null |
Het |
Atp6v1c1 |
T |
C |
15: 38,687,107 (GRCm39) |
V234A |
probably benign |
Het |
Ccp110 |
G |
A |
7: 118,328,948 (GRCm39) |
|
probably null |
Het |
Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
Fgfrl1 |
T |
C |
5: 108,853,168 (GRCm39) |
C173R |
probably damaging |
Het |
Gm5431 |
G |
A |
11: 48,785,583 (GRCm39) |
T264M |
possibly damaging |
Het |
Golga1 |
T |
C |
2: 38,910,111 (GRCm39) |
E637G |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,832,046 (GRCm39) |
T1049A |
probably benign |
Het |
Hcn4 |
T |
A |
9: 58,766,576 (GRCm39) |
|
probably null |
Het |
Krt86 |
G |
A |
15: 101,374,386 (GRCm39) |
V260I |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,927,490 (GRCm39) |
Q548L |
probably damaging |
Het |
Lingo4 |
A |
T |
3: 94,309,220 (GRCm39) |
I53F |
probably benign |
Het |
Lrrk1 |
A |
C |
7: 65,956,963 (GRCm39) |
I336S |
probably benign |
Het |
Magel2 |
G |
T |
7: 62,029,514 (GRCm39) |
G806V |
unknown |
Het |
Mrc2 |
T |
A |
11: 105,224,492 (GRCm39) |
S501T |
probably damaging |
Het |
Mrps18a |
T |
A |
17: 46,436,575 (GRCm39) |
L128* |
probably null |
Het |
Mtor |
G |
T |
4: 148,575,927 (GRCm39) |
L1360F |
probably damaging |
Het |
Mtpap |
A |
G |
18: 4,379,674 (GRCm39) |
E88G |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,196,436 (GRCm39) |
K1294R |
probably benign |
Het |
Or10al2 |
G |
A |
17: 37,983,176 (GRCm39) |
M87I |
possibly damaging |
Het |
Pik3c3 |
G |
A |
18: 30,444,346 (GRCm39) |
V520M |
probably damaging |
Het |
Pptc7 |
T |
A |
5: 122,458,918 (GRCm39) |
V305E |
probably damaging |
Het |
Ptgfrn |
T |
C |
3: 100,963,566 (GRCm39) |
D682G |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,599,157 (GRCm39) |
Q538L |
probably damaging |
Het |
Sbk1 |
G |
A |
7: 125,891,415 (GRCm39) |
R283H |
probably damaging |
Het |
Sfswap |
T |
C |
5: 129,590,222 (GRCm39) |
F240L |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,927,503 (GRCm39) |
H101L |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,767,107 (GRCm39) |
|
probably benign |
Het |
Spink5 |
A |
G |
18: 44,151,778 (GRCm39) |
T986A |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,188,101 (GRCm39) |
S496T |
probably benign |
Het |
Tenm2 |
C |
T |
11: 36,054,541 (GRCm39) |
|
probably null |
Het |
Tiam1 |
G |
T |
16: 89,662,253 (GRCm39) |
R622S |
probably damaging |
Het |
Vmn2r109 |
C |
A |
17: 20,761,189 (GRCm39) |
D723Y |
probably damaging |
Het |
Vmn2r70 |
G |
T |
7: 85,212,935 (GRCm39) |
Q491K |
probably benign |
Het |
Wnk1 |
A |
C |
6: 119,926,319 (GRCm39) |
S1297R |
probably damaging |
Het |
Zan |
C |
T |
5: 137,385,233 (GRCm39) |
V5067I |
unknown |
Het |
Zfp108 |
A |
G |
7: 23,960,011 (GRCm39) |
S201G |
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 |
|
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 |
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'- AACCTGAGTCAGCCTGGG -3'
(R):5'- CTGAGGCCAGAGCTCTGCA -3'
Sequencing Primer
(F):5'- CAGCCCCATGATAGGATTAGTGTC -3'
(R):5'- AGAGCTCTGCAGGCAGC -3'
|
Posted On |
2016-10-26 |