Incidental Mutation 'R6369:Tbc1d2'
| ID |
512836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2
|
| Ensembl Gene |
ENSMUSG00000039813 |
| Gene Name |
TBC1 domain family, member 2 |
| Synonyms |
PARIS-1, A630005A06Rik, LOC381605, PARIS1 |
| MMRRC Submission |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46604390-46650209 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46614420 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 554
(Y554H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
|
| AlphaFold |
B1AVH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084621
AA Change: Y554H
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: Y554H
| 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 |
0.1266 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 13,835,343 (GRCm38) |
R571* |
probably null |
Het |
| Asb18 |
A |
T |
1: 90,014,471 (GRCm38) |
I36N |
probably damaging |
Het |
| Ascc3 |
G |
A |
10: 50,699,985 (GRCm38) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 79,854,555 (GRCm38) |
Q205R |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,392,745 (GRCm38) |
I235T |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,454,701 (GRCm38) |
N237S |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,915,485 (GRCm38) |
N256S |
probably benign |
Het |
| Cchcr1 |
T |
C |
17: 35,528,176 (GRCm38) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,944,984 (GRCm38) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,957,555 (GRCm38) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,237,462 (GRCm38) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,535,004 (GRCm38) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,980,695 (GRCm38) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,239,568 (GRCm38) |
|
probably null |
Het |
| Ero1l |
T |
C |
14: 45,299,958 (GRCm38) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,947,331 (GRCm38) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,913,792 (GRCm38) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,355,930 (GRCm38) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,736,753 (GRCm38) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,520,601 (GRCm38) |
I322F |
probably benign |
Het |
| Itga1 |
T |
C |
13: 114,965,660 (GRCm38) |
I1145V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,484,694 (GRCm38) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,410,562 (GRCm38) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,165,559 (GRCm38) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,261,187 (GRCm38) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,101,076 (GRCm38) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,490,222 (GRCm38) |
L172P |
probably damaging |
Het |
| Olfr123 |
T |
G |
17: 37,795,496 (GRCm38) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,687,028 (GRCm38) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,320,734 (GRCm38) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 28,878,481 (GRCm38) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,886,542 (GRCm38) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,582,412 (GRCm38) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,914,207 (GRCm38) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 116,111,189 (GRCm38) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,446 (GRCm38) |
M17V |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,641,313 (GRCm38) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,051,361 (GRCm38) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,235,942 (GRCm38) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,446,702 (GRCm38) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,103,962 (GRCm38) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,080,753 (GRCm38) |
N127K |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,980,293 (GRCm38) |
E89D |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,891,370 (GRCm38) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,594,984 (GRCm38) |
F263I |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 52,868,604 (GRCm38) |
I66V |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 80,115,590 (GRCm38) |
|
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,479,743 (GRCm38) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,512,285 (GRCm38) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,548,602 (GRCm38) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,574,444 (GRCm38) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,930,897 (GRCm38) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 73,421,968 (GRCm38) |
R189H |
possibly damaging |
Homo |
|
| Other mutations in Tbc1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Tbc1d2
|
APN |
4 |
46,649,745 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01748:Tbc1d2
|
APN |
4 |
46,616,306 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01863:Tbc1d2
|
APN |
4 |
46,607,064 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02014:Tbc1d2
|
APN |
4 |
46,649,778 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL02025:Tbc1d2
|
APN |
4 |
46,620,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02551:Tbc1d2
|
APN |
4 |
46,649,916 (GRCm38) |
missense |
probably benign |
|
|
IGL02571:Tbc1d2
|
APN |
4 |
46,628,370 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03149:Tbc1d2
|
APN |
4 |
46,637,619 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0347:Tbc1d2
|
UTSW |
4 |
46,620,574 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0374:Tbc1d2
|
UTSW |
4 |
46,649,913 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0522:Tbc1d2
|
UTSW |
4 |
46,649,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0883:Tbc1d2
|
UTSW |
4 |
46,609,003 (GRCm38) |
nonsense |
probably null |
|
|
R1227:Tbc1d2
|
UTSW |
4 |
46,620,629 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1658:Tbc1d2
|
UTSW |
4 |
46,614,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1959:Tbc1d2
|
UTSW |
4 |
46,606,419 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2108:Tbc1d2
|
UTSW |
4 |
46,637,652 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R3864:Tbc1d2
|
UTSW |
4 |
46,620,484 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4475:Tbc1d2
|
UTSW |
4 |
46,609,080 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5112:Tbc1d2
|
UTSW |
4 |
46,606,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5127:Tbc1d2
|
UTSW |
4 |
46,633,639 (GRCm38) |
intron |
probably benign |
|
|
R5215:Tbc1d2
|
UTSW |
4 |
46,614,006 (GRCm38) |
missense |
probably benign |
0.42 |
|
R5475:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5550:Tbc1d2
|
UTSW |
4 |
46,646,138 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5558:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5564:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5599:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5600:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5699:Tbc1d2
|
UTSW |
4 |
46,616,298 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5866:Tbc1d2
|
UTSW |
4 |
46,637,715 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5909:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5911:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5980:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6194:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6195:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6209:Tbc1d2
|
UTSW |
4 |
46,614,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6211:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6232:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6242:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6261:Tbc1d2
|
UTSW |
4 |
46,637,692 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6273:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6274:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6285:Tbc1d2
|
UTSW |
4 |
46,615,045 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6333:Tbc1d2
|
UTSW |
4 |
46,620,736 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6912:Tbc1d2
|
UTSW |
4 |
46,649,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7428:Tbc1d2
|
UTSW |
4 |
46,649,965 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7775:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm38) |
splice site |
probably null |
|
|
R7824:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm38) |
splice site |
probably null |
|
|
R8069:Tbc1d2
|
UTSW |
4 |
46,649,737 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8135:Tbc1d2
|
UTSW |
4 |
46,609,071 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8203:Tbc1d2
|
UTSW |
4 |
46,606,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8271:Tbc1d2
|
UTSW |
4 |
46,649,791 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8690:Tbc1d2
|
UTSW |
4 |
46,615,106 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9025:Tbc1d2
|
UTSW |
4 |
46,607,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9236:Tbc1d2
|
UTSW |
4 |
46,609,029 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9622:Tbc1d2
|
UTSW |
4 |
46,609,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9776:Tbc1d2
|
UTSW |
4 |
46,650,007 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0023:Tbc1d2
|
UTSW |
4 |
46,615,037 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0063:Tbc1d2
|
UTSW |
4 |
46,606,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d2
|
UTSW |
4 |
46,650,016 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCTCTTGGTAGCAGCC -3'
(R):5'- GTGAATGCATCTCTCCTGGC -3'
Sequencing Primer
(F):5'- CTGCTTGAGCTCAGCTGAG -3'
(R):5'- CTCTTCTGTTTACCGAGGGGATC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation