Incidental Mutation 'IGL02551:Tbc1d2'
| ID |
298077 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d2
|
| Ensembl Gene |
ENSMUSG00000039813 |
| Gene Name |
TBC1 domain family, member 2 |
| Synonyms |
PARIS-1, LOC381605, PARIS1, A630005A06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
IGL02551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46649916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 40
(D40G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
[ENSMUST00000107750]
|
| AlphaFold |
B1AVH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084621
AA Change: D40G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: D40G
| 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
AA Change: D40G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813
AA Change: D40G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
G |
A |
1: 158,796,618 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,975,068 (GRCm39) |
I109V |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 114,425,704 (GRCm39) |
C1186F |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,666,926 (GRCm39) |
V522E |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,370,802 (GRCm39) |
T694A |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,609,250 (GRCm39) |
V609I |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,800,006 (GRCm39) |
K638R |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,505,822 (GRCm39) |
N66I |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,554,599 (GRCm39) |
I245N |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,039,922 (GRCm39) |
V120A |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,553 (GRCm39) |
E465G |
probably damaging |
Het |
| Btrc |
G |
T |
19: 45,411,573 (GRCm39) |
C31F |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,121,539 (GRCm39) |
S210L |
probably damaging |
Het |
| Cnksr3 |
C |
A |
10: 7,102,912 (GRCm39) |
K153N |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,943,686 (GRCm39) |
S25P |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,496,550 (GRCm39) |
W838R |
probably damaging |
Het |
| Fam78a |
T |
A |
2: 31,959,568 (GRCm39) |
T181S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,504,435 (GRCm39) |
T4600A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,293,083 (GRCm39) |
Y101N |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,232,389 (GRCm39) |
M1V |
probably null |
Het |
| Gsdmc |
T |
A |
15: 63,673,782 (GRCm39) |
T168S |
probably benign |
Het |
| Has1 |
C |
T |
17: 18,068,560 (GRCm39) |
V265I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,344,823 (GRCm39) |
D4670G |
possibly damaging |
Het |
| Kcnj4 |
C |
T |
15: 79,369,103 (GRCm39) |
M292I |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,465,485 (GRCm39) |
S80C |
probably damaging |
Het |
| Lrrc8d |
C |
T |
5: 105,961,414 (GRCm39) |
T608I |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,923,197 (GRCm39) |
N635I |
probably benign |
Het |
| Nags |
T |
C |
11: 102,038,767 (GRCm39) |
S403P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,555,112 (GRCm39) |
N1018K |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,705 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 94,954,461 (GRCm39) |
Q53* |
probably null |
Het |
| Pdk2 |
T |
A |
11: 94,919,412 (GRCm39) |
M288L |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,792,789 (GRCm39) |
Y1492C |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,692 (GRCm39) |
W34R |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,183,294 (GRCm39) |
D511V |
possibly damaging |
Het |
| Plin2 |
C |
A |
4: 86,576,929 (GRCm39) |
M265I |
probably benign |
Het |
| Ppp6c |
A |
T |
2: 39,096,669 (GRCm39) |
F78I |
probably damaging |
Het |
| Prop1 |
A |
T |
11: 50,841,773 (GRCm39) |
M211K |
possibly damaging |
Het |
| Prr14l |
T |
A |
5: 32,988,828 (GRCm39) |
E222D |
probably damaging |
Het |
| Rtkn |
A |
T |
6: 83,128,905 (GRCm39) |
I454F |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,154,567 (GRCm39) |
I226V |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,538 (GRCm39) |
H229Q |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,266,493 (GRCm39) |
F348L |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,240,136 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,803,717 (GRCm39) |
G249E |
probably damaging |
Het |
| Tmcc2 |
A |
G |
1: 132,285,317 (GRCm39) |
L683P |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,857,689 (GRCm39) |
S1097P |
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
| Ttll6 |
T |
C |
11: 96,045,526 (GRCm39) |
I581T |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,966,352 (GRCm39) |
|
probably null |
Het |
| Vgll4 |
A |
G |
6: 114,839,254 (GRCm39) |
W246R |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,100 (GRCm39) |
V170A |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,437,930 (GRCm39) |
T185A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,622,400 (GRCm39) |
H234R |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,462 (GRCm39) |
E2194G |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation