Incidental Mutation 'R5475:Tbc1d2'
| ID |
434006 |
| 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 |
043036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R5475 (G1)
|
| Quality Score |
97 |
|
Status
|
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: 98.3%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
96% (72/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| AA467197 |
A |
G |
2: 122,482,646 (GRCm39) |
K70R |
probably damaging |
Het |
| Agr3 |
A |
G |
12: 35,997,539 (GRCm39) |
N83S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,083 (GRCm39) |
T904A |
probably benign |
Het |
| Ank |
A |
T |
15: 27,557,285 (GRCm39) |
K156N |
probably damaging |
Het |
| Arsb |
T |
G |
13: 93,998,773 (GRCm39) |
D360E |
probably benign |
Het |
| Atg14 |
C |
T |
14: 47,805,793 (GRCm39) |
R24Q |
possibly damaging |
Het |
| Cacna1e |
A |
T |
1: 154,601,455 (GRCm39) |
F71I |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,361,101 (GRCm39) |
I242T |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,651,537 (GRCm39) |
H1158R |
probably null |
Het |
| Cse1l |
T |
C |
2: 166,783,174 (GRCm39) |
S684P |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,731 (GRCm39) |
M404L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dph7 |
A |
T |
2: 24,858,969 (GRCm39) |
|
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,415,088 (GRCm39) |
N662Y |
probably damaging |
Het |
| Efcab9 |
T |
G |
11: 32,472,862 (GRCm39) |
D195A |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,352,701 (GRCm39) |
M95V |
probably benign |
Het |
| Fam171a1 |
A |
T |
2: 3,226,334 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Fars2 |
T |
C |
13: 36,388,553 (GRCm39) |
I14T |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,766,802 (GRCm39) |
V54A |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,579,684 (GRCm39) |
I167T |
probably benign |
Het |
| Fzd9 |
A |
T |
5: 135,279,123 (GRCm39) |
|
probably null |
Het |
| Gm26996 |
T |
A |
6: 130,556,918 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4744 |
A |
G |
6: 40,927,388 (GRCm39) |
|
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Has1 |
C |
A |
17: 18,068,583 (GRCm39) |
R257L |
possibly damaging |
Het |
| Hjv |
T |
C |
3: 96,434,599 (GRCm39) |
S113P |
probably benign |
Het |
| Hsd17b8 |
C |
T |
17: 34,246,287 (GRCm39) |
|
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,609 (GRCm39) |
V665G |
probably damaging |
Het |
| Klhdc4 |
T |
A |
8: 122,526,311 (GRCm39) |
H276L |
possibly damaging |
Het |
| Klhl6 |
A |
T |
16: 19,766,877 (GRCm39) |
C506S |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,699,174 (GRCm39) |
Y88C |
probably damaging |
Het |
| Lrit1 |
A |
G |
14: 36,776,958 (GRCm39) |
E26G |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,889,541 (GRCm39) |
Y414C |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,188,928 (GRCm39) |
D100G |
probably damaging |
Het |
| Micall2 |
T |
A |
5: 139,702,224 (GRCm39) |
S340C |
probably damaging |
Het |
| Npsr1 |
T |
C |
9: 24,211,715 (GRCm39) |
I81T |
probably damaging |
Het |
| Or2bd2 |
G |
T |
7: 6,443,169 (GRCm39) |
R90L |
probably benign |
Het |
| Or2t49 |
A |
G |
11: 58,392,431 (GRCm39) |
V317A |
probably benign |
Het |
| Or6x1 |
T |
A |
9: 40,099,005 (GRCm39) |
L198H |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,762 (GRCm39) |
F258L |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,080,055 (GRCm39) |
T444A |
probably benign |
Het |
| Pea15a |
A |
G |
1: 172,026,809 (GRCm39) |
|
probably null |
Het |
| Phc1 |
T |
A |
6: 122,311,051 (GRCm39) |
Q95L |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,594 (GRCm39) |
Y361C |
probably damaging |
Het |
| Pphln1-ps1 |
A |
T |
16: 13,494,977 (GRCm39) |
R25S |
possibly damaging |
Het |
| Rad54l2 |
C |
T |
9: 106,583,057 (GRCm39) |
G787D |
probably damaging |
Het |
| Rbm20 |
G |
T |
19: 53,823,136 (GRCm39) |
E578* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
| Thumpd1 |
A |
G |
7: 119,319,943 (GRCm39) |
S8P |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,908,567 (GRCm39) |
Y1407H |
probably damaging |
Het |
| Trav2 |
T |
A |
14: 52,805,290 (GRCm39) |
V37E |
probably damaging |
Het |
| Trav3-1 |
G |
T |
14: 52,818,494 (GRCm39) |
W56L |
probably damaging |
Het |
| Usp31 |
A |
T |
7: 121,250,749 (GRCm39) |
L808Q |
probably damaging |
Het |
| Vmn1r52 |
C |
T |
6: 90,155,894 (GRCm39) |
A66V |
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,455,044 (GRCm39) |
I31L |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zbtb2 |
G |
T |
10: 4,319,275 (GRCm39) |
F250L |
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 |
|
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'- CCTGAGTCAGCCTGGGTG -3'
(R):5'- CTGAGGCCAGAGCTCTGCA -3'
Sequencing Primer
(F):5'- CAGCCCCATGATAGGATTAGTGTC -3'
(R):5'- AGAGCTCTGCAGGCAGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation