Incidental Mutation 'R6483:Tbc1d22a'
| ID |
517227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d22a
|
| Ensembl Gene |
ENSMUSG00000051864 |
| Gene Name |
TBC1 domain family, member 22a |
| Synonyms |
D15Ertd781e |
| MMRRC Submission |
044615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
86098660-86382704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86185768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 286
(M286V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063414]
|
| AlphaFold |
Q8R5A6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063414
AA Change: M286V
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: M286V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
25 |
94 |
5e-34 |
BLAST |
|
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
|
TBC
|
218 |
471 |
2.35e-43 |
SMART |
|
Blast:TBC
|
476 |
515 |
1e-9 |
BLAST |
|
| Meta Mutation Damage Score |
0.1715 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,700,538 (GRCm39) |
L39R |
possibly damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,771 (GRCm39) |
S337P |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,344,226 (GRCm39) |
I12K |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,657,618 (GRCm39) |
V624A |
possibly damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,208 (GRCm39) |
L215Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,425 (GRCm39) |
V963A |
probably benign |
Het |
| Bpifa6 |
T |
C |
2: 153,832,354 (GRCm39) |
L287S |
probably benign |
Het |
| Bsnd |
A |
T |
4: 106,345,212 (GRCm39) |
L78Q |
probably damaging |
Het |
| C1qtnf3 |
T |
C |
15: 10,958,156 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
T |
G |
4: 45,921,950 (GRCm39) |
V1008G |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,068,860 (GRCm39) |
D59A |
possibly damaging |
Het |
| Cfap58 |
T |
C |
19: 47,971,891 (GRCm39) |
I607T |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cntnap4 |
C |
T |
8: 113,484,105 (GRCm39) |
P386L |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,833,444 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,085,003 (GRCm39) |
D798E |
probably damaging |
Het |
| Eml6 |
T |
G |
11: 29,699,875 (GRCm39) |
I1754L |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,320,344 (GRCm39) |
V310D |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,171 (GRCm39) |
T1225I |
probably damaging |
Het |
| Gba1 |
A |
G |
3: 89,115,910 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm43302 |
T |
A |
5: 105,423,726 (GRCm39) |
M416L |
probably benign |
Het |
| Grxcr2 |
A |
T |
18: 42,124,955 (GRCm39) |
V151E |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,240,066 (GRCm39) |
N296S |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,355,811 (GRCm39) |
I2354N |
possibly damaging |
Het |
| Inhbc |
G |
A |
10: 127,193,309 (GRCm39) |
R236* |
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,013,975 (GRCm39) |
D2607G |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,676,118 (GRCm39) |
D298V |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Mrgpra2a |
C |
G |
7: 47,076,437 (GRCm39) |
E274Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,356,591 (GRCm39) |
F1059L |
probably benign |
Het |
| Naglu |
T |
C |
11: 100,962,007 (GRCm39) |
I160T |
probably damaging |
Het |
| Nasp |
A |
T |
4: 116,476,145 (GRCm39) |
L47Q |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,447,525 (GRCm39) |
T873I |
possibly damaging |
Het |
| Or10a3n |
C |
T |
7: 108,493,318 (GRCm39) |
V99M |
possibly damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,500 (GRCm39) |
T17A |
probably benign |
Het |
| Or8u10 |
C |
A |
2: 85,915,784 (GRCm39) |
M112I |
probably benign |
Het |
| Pttg1 |
A |
G |
11: 43,315,671 (GRCm39) |
F48L |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,909,218 (GRCm39) |
F85L |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,432 (GRCm39) |
V316A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,026,089 (GRCm39) |
I243T |
probably benign |
Het |
| Tada2b |
G |
A |
5: 36,634,029 (GRCm39) |
T183M |
possibly damaging |
Het |
| Trim69 |
G |
T |
2: 121,998,081 (GRCm39) |
E18* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,772,394 (GRCm39) |
T2503A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp654 |
T |
A |
16: 64,612,310 (GRCm39) |
N192I |
possibly damaging |
Het |
| Zfp809 |
G |
A |
9: 22,147,540 (GRCm39) |
R58H |
probably benign |
Het |
|
| Other mutations in Tbc1d22a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01022:Tbc1d22a
|
APN |
15 |
86,185,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01483:Tbc1d22a
|
APN |
15 |
86,275,404 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02137:Tbc1d22a
|
APN |
15 |
86,183,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02543:Tbc1d22a
|
APN |
15 |
86,123,372 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0138:Tbc1d22a
|
UTSW |
15 |
86,183,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Tbc1d22a
|
UTSW |
15 |
86,176,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1294:Tbc1d22a
|
UTSW |
15 |
86,381,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1565:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1586:Tbc1d22a
|
UTSW |
15 |
86,235,852 (GRCm39) |
splice site |
probably null |
|
|
R1703:Tbc1d22a
|
UTSW |
15 |
86,123,416 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1822:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1823:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1824:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1925:Tbc1d22a
|
UTSW |
15 |
86,123,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Tbc1d22a
|
UTSW |
15 |
86,183,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2015:Tbc1d22a
|
UTSW |
15 |
86,183,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2035:Tbc1d22a
|
UTSW |
15 |
86,275,266 (GRCm39) |
splice site |
probably null |
|
|
R4380:Tbc1d22a
|
UTSW |
15 |
86,235,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Tbc1d22a
|
UTSW |
15 |
86,119,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Tbc1d22a
|
UTSW |
15 |
86,196,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Tbc1d22a
|
UTSW |
15 |
86,235,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Tbc1d22a
|
UTSW |
15 |
86,381,117 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4920:Tbc1d22a
|
UTSW |
15 |
86,195,949 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4979:Tbc1d22a
|
UTSW |
15 |
86,275,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Tbc1d22a
|
UTSW |
15 |
86,235,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5916:Tbc1d22a
|
UTSW |
15 |
86,098,809 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6360:Tbc1d22a
|
UTSW |
15 |
86,098,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Tbc1d22a
|
UTSW |
15 |
86,123,356 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7294:Tbc1d22a
|
UTSW |
15 |
86,196,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7645:Tbc1d22a
|
UTSW |
15 |
86,119,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7704:Tbc1d22a
|
UTSW |
15 |
86,250,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Tbc1d22a
|
UTSW |
15 |
86,098,803 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9370:Tbc1d22a
|
UTSW |
15 |
86,123,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9459:Tbc1d22a
|
UTSW |
15 |
86,120,021 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9792:Tbc1d22a
|
UTSW |
15 |
86,119,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9793:Tbc1d22a
|
UTSW |
15 |
86,119,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF013:Tbc1d22a
|
UTSW |
15 |
86,183,975 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAAGCCTTCCTCAGGTGG -3'
(R):5'- TGGTCATCATTGGAGAGGTTCTAAC -3'
Sequencing Primer
(F):5'- CCTTCCTCAGGTGGAGTGTGC -3'
(R):5'- GGTTCTAACTCCTAAATTCAAGGAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation