Incidental Mutation 'R1294:Tbc1d22a'
ID |
158030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d22a
|
Ensembl Gene |
ENSMUSG00000051864 |
Gene Name |
TBC1 domain family, member 22a |
Synonyms |
D15Ertd781e |
MMRRC Submission |
039360-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1294 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
86098660-86382704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86381027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 479
(F479Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063414]
|
AlphaFold |
Q8R5A6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063414
AA Change: F479Y
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065721 Gene: ENSMUSG00000051864 AA Change: F479Y
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 |
0.3117 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C2cd2 |
A |
G |
16: 97,723,469 (GRCm39) |
L16P |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
Cnn2 |
A |
G |
10: 79,829,359 (GRCm39) |
D163G |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,748,052 (GRCm39) |
D233G |
probably damaging |
Het |
Csta2 |
T |
A |
16: 36,077,618 (GRCm39) |
D58E |
probably damaging |
Het |
Dhh |
T |
C |
15: 98,792,264 (GRCm39) |
Q248R |
probably benign |
Het |
Elavl2 |
G |
A |
4: 91,199,826 (GRCm39) |
A19V |
probably benign |
Het |
Fxr1 |
T |
A |
3: 34,101,201 (GRCm39) |
M169K |
probably benign |
Het |
Ghr |
A |
G |
15: 3,418,128 (GRCm39) |
|
probably null |
Het |
Gm5334 |
T |
C |
7: 68,268,862 (GRCm39) |
S94P |
probably damaging |
Het |
Klk1b3 |
C |
A |
7: 43,849,720 (GRCm39) |
S35Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
Lap3 |
T |
C |
5: 45,655,863 (GRCm39) |
V156A |
probably benign |
Het |
Pcbp3 |
A |
G |
10: 76,599,155 (GRCm39) |
I327T |
probably damaging |
Het |
Plaat5 |
A |
G |
19: 7,592,015 (GRCm39) |
|
probably benign |
Het |
Polr1a |
A |
T |
6: 71,889,886 (GRCm39) |
N35I |
probably damaging |
Het |
Rab3c |
T |
C |
13: 110,397,099 (GRCm39) |
T56A |
possibly damaging |
Het |
Rapsn |
A |
T |
2: 90,867,120 (GRCm39) |
K141* |
probably null |
Het |
Rxrg |
G |
T |
1: 167,441,470 (GRCm39) |
A83S |
probably benign |
Het |
Serpinc1 |
T |
C |
1: 160,817,211 (GRCm39) |
S102P |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,378,575 (GRCm39) |
N797D |
probably benign |
Het |
Skic2 |
T |
C |
17: 35,060,040 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
T |
9: 64,843,295 (GRCm39) |
V619E |
unknown |
Het |
Slc25a20 |
A |
G |
9: 108,554,838 (GRCm39) |
M128V |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,796,906 (GRCm39) |
I286V |
probably benign |
Het |
Tdrd1 |
A |
G |
19: 56,837,208 (GRCm39) |
|
probably null |
Het |
Trim58 |
T |
A |
11: 58,533,953 (GRCm39) |
I169N |
probably benign |
Het |
Vmn1r25 |
A |
G |
6: 57,955,464 (GRCm39) |
I275T |
possibly damaging |
Het |
Zfp27 |
T |
A |
7: 29,595,737 (GRCm39) |
Y76F |
possibly damaging |
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 |
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 |
R6483:Tbc1d22a
|
UTSW |
15 |
86,185,768 (GRCm39) |
missense |
possibly damaging |
0.48 |
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'- CAGATACTGAGCTGGATGGCAGATG -3'
(R):5'- TGCTAGGTCACACCAGGAAAGGAC -3'
Sequencing Primer
(F):5'- CCTGTAAAAGCTGGCATCTG -3'
(R):5'- TCCAGAGGCCAGCAACTG -3'
|
Posted On |
2014-02-18 |