Incidental Mutation 'R5911:Tbc1d2'
| ID |
460981 |
| 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 |
044108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R5911 (G1)
|
| Quality Score |
214 |
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
92% (77/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
C |
T |
3: 124,350,380 (GRCm39) |
|
probably benign |
Het |
| Acacb |
A |
T |
5: 114,370,951 (GRCm39) |
D1731V |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,226,778 (GRCm39) |
V563I |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,692,471 (GRCm39) |
E175G |
probably damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,747 (GRCm39) |
T602S |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,001,591 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
G |
T |
10: 4,508,551 (GRCm39) |
E592* |
probably null |
Het |
| Clasp1 |
C |
A |
1: 118,434,638 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,568,564 (GRCm39) |
M291L |
probably benign |
Het |
| Cyp3a41b |
T |
A |
5: 145,519,349 (GRCm39) |
L47F |
probably benign |
Het |
| Dgcr6 |
A |
G |
16: 17,884,598 (GRCm39) |
D82G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,754 (GRCm39) |
E592G |
probably damaging |
Het |
| Dtl |
G |
A |
1: 191,300,519 (GRCm39) |
T115I |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,457,510 (GRCm39) |
Y338C |
probably damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,897 (GRCm39) |
D198G |
probably damaging |
Het |
| Ereg |
A |
C |
5: 91,222,552 (GRCm39) |
|
probably benign |
Het |
| Esp31 |
G |
C |
17: 38,951,933 (GRCm39) |
|
probably null |
Het |
| Faap100 |
T |
C |
11: 120,267,958 (GRCm39) |
I272V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,560 (GRCm39) |
D109G |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,339,299 (GRCm39) |
M51L |
probably benign |
Het |
| Fcnb |
A |
T |
2: 27,966,701 (GRCm39) |
N277K |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,009,325 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,932 (GRCm39) |
F289S |
possibly damaging |
Het |
| Grik4 |
C |
A |
9: 42,502,720 (GRCm39) |
V468F |
probably damaging |
Het |
| Gtdc1 |
T |
A |
2: 44,642,076 (GRCm39) |
R168S |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,699,440 (GRCm39) |
G610R |
probably damaging |
Het |
| Gulp1 |
A |
T |
1: 44,793,534 (GRCm39) |
Q65L |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,849,035 (GRCm39) |
D356E |
probably damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,157,737 (GRCm39) |
|
probably benign |
Het |
| Igkv13-57-2 |
T |
C |
6: 69,500,971 (GRCm39) |
|
noncoding transcript |
Het |
| Itih4 |
A |
G |
14: 30,612,612 (GRCm39) |
I213V |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,214,441 (GRCm39) |
K1469E |
probably benign |
Het |
| Jkampl |
T |
C |
6: 73,445,674 (GRCm39) |
T292A |
probably damaging |
Het |
| Jrk |
T |
C |
15: 74,577,617 (GRCm39) |
D556G |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,663,905 (GRCm39) |
I345F |
probably benign |
Het |
| Klhdc1 |
A |
G |
12: 69,303,025 (GRCm39) |
E187G |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,779,833 (GRCm39) |
Y111H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,229 (GRCm39) |
V319D |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,156,092 (GRCm39) |
L553P |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,351 (GRCm39) |
I225F |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,915 (GRCm39) |
H172L |
probably benign |
Het |
| Or5d38 |
C |
T |
2: 87,955,027 (GRCm39) |
V101I |
probably benign |
Het |
| Or5e1 |
T |
A |
7: 108,354,882 (GRCm39) |
I273N |
probably benign |
Het |
| Or5p66 |
T |
A |
7: 107,885,605 (GRCm39) |
T243S |
probably damaging |
Het |
| Or7g26 |
T |
C |
9: 19,230,445 (GRCm39) |
I205T |
probably benign |
Het |
| Pelp1 |
C |
T |
11: 70,287,740 (GRCm39) |
R394H |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,109,817 (GRCm39) |
|
probably null |
Het |
| Prr5 |
C |
A |
15: 84,585,635 (GRCm39) |
S201* |
probably null |
Het |
| Rad23b |
T |
A |
4: 55,370,474 (GRCm39) |
|
probably null |
Het |
| Rasgef1a |
T |
A |
6: 118,061,335 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,738,832 (GRCm39) |
I565N |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,945,600 (GRCm39) |
N527S |
probably damaging |
Het |
| Slc39a5 |
T |
A |
10: 128,235,812 (GRCm39) |
N49Y |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,694,058 (GRCm39) |
S571T |
probably benign |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Tgm7 |
T |
A |
2: 120,926,454 (GRCm39) |
D480V |
probably benign |
Het |
| Thpo |
T |
A |
16: 20,547,546 (GRCm39) |
S22C |
probably null |
Het |
| Top2a |
T |
A |
11: 98,907,291 (GRCm39) |
T180S |
possibly damaging |
Het |
| Trim37 |
T |
A |
11: 87,087,663 (GRCm39) |
Y34* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,361 (GRCm39) |
E1254G |
possibly damaging |
Het |
| Ttc39a |
C |
T |
4: 109,280,168 (GRCm39) |
P150L |
possibly damaging |
Het |
| Ttc4 |
T |
C |
4: 106,525,240 (GRCm39) |
D298G |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,386,482 (GRCm39) |
V41A |
probably benign |
Het |
| Vmn1r20 |
C |
A |
6: 57,408,774 (GRCm39) |
H33Q |
probably benign |
Het |
| Zan |
A |
T |
5: 137,456,174 (GRCm39) |
Y1329N |
unknown |
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 |
|
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'- AACCTGAGTCAGCCTGGGT -3'
(R):5'- GAGGCCAGAGCTCTGCAG -3'
Sequencing Primer
(F):5'- CAGCCCCATGATAGGATTAGTGTC -3'
(R):5'- AGAGCTCTGCAGGCAGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation