Incidental Mutation 'IGL02137:Tbc1d22a'
ID |
281360 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbc1d22a
|
Ensembl Gene |
ENSMUSG00000051864 |
Gene Name |
TBC1 domain family, member 22a |
Synonyms |
D15Ertd781e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02137
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
86098660-86382704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86183870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 243
(D243G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063414]
|
AlphaFold |
Q8R5A6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063414
AA Change: D243G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000065721 Gene: ENSMUSG00000051864 AA Change: D243G
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
T |
C |
X: 80,501,262 (GRCm39) |
D116G |
probably benign |
Het |
Acp2 |
G |
T |
2: 91,034,028 (GRCm39) |
G66V |
probably damaging |
Het |
Adam32 |
C |
T |
8: 25,362,610 (GRCm39) |
G605D |
probably damaging |
Het |
Adam4 |
T |
C |
12: 81,467,877 (GRCm39) |
D248G |
possibly damaging |
Het |
Adamts15 |
C |
A |
9: 30,821,956 (GRCm39) |
G494W |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,283,338 (GRCm39) |
N190K |
probably damaging |
Het |
Bach2 |
C |
T |
4: 32,501,621 (GRCm39) |
|
probably benign |
Het |
Bloc1s1 |
T |
C |
10: 128,758,517 (GRCm39) |
|
probably benign |
Het |
Casz1 |
G |
T |
4: 149,017,925 (GRCm39) |
A405S |
possibly damaging |
Het |
Cplx4 |
T |
C |
18: 66,090,125 (GRCm39) |
D98G |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,134,349 (GRCm39) |
N1553D |
probably benign |
Het |
Erich5 |
G |
A |
15: 34,470,900 (GRCm39) |
C43Y |
probably damaging |
Het |
Exosc10 |
A |
C |
4: 148,645,590 (GRCm39) |
R123S |
probably damaging |
Het |
Hoatz |
T |
C |
9: 50,997,408 (GRCm39) |
|
probably benign |
Het |
Inpp5f |
T |
C |
7: 128,296,853 (GRCm39) |
V377A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,620,700 (GRCm39) |
|
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,847 (GRCm39) |
V14M |
probably benign |
Het |
Mtrr |
G |
A |
13: 68,716,920 (GRCm39) |
S431F |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,068,817 (GRCm39) |
|
probably null |
Het |
Nsfl1c |
T |
A |
2: 151,351,509 (GRCm39) |
I291N |
probably damaging |
Het |
Ntsr1 |
T |
A |
2: 180,180,628 (GRCm39) |
|
probably null |
Het |
Or4n4 |
T |
C |
14: 50,519,135 (GRCm39) |
T192A |
probably benign |
Het |
Park7 |
T |
C |
4: 150,988,288 (GRCm39) |
I102M |
probably benign |
Het |
Pik3c2a |
T |
A |
7: 115,950,039 (GRCm39) |
Q1326L |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,648,025 (GRCm39) |
D693G |
probably benign |
Het |
Rep15 |
G |
A |
6: 146,934,845 (GRCm39) |
R228H |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,234 (GRCm39) |
V100A |
probably benign |
Het |
Slc9a4 |
T |
C |
1: 40,640,059 (GRCm39) |
F284L |
possibly damaging |
Het |
Sox10 |
G |
T |
15: 79,043,393 (GRCm39) |
D52E |
probably benign |
Het |
St3gal5 |
C |
A |
6: 72,105,266 (GRCm39) |
T6N |
probably benign |
Het |
Tll1 |
T |
C |
8: 64,469,132 (GRCm39) |
Y997C |
possibly damaging |
Het |
Tmem8b |
A |
T |
4: 43,689,434 (GRCm39) |
H276L |
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,609,450 (GRCm39) |
Y12C |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
Trav18 |
T |
A |
14: 54,069,192 (GRCm39) |
M78K |
probably benign |
Het |
Uba7 |
A |
G |
9: 107,856,952 (GRCm39) |
|
probably benign |
Het |
Vmn1r167 |
A |
T |
7: 23,204,864 (GRCm39) |
S51T |
probably damaging |
Het |
Vmn1r83 |
A |
T |
7: 12,055,761 (GRCm39) |
Y99N |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably 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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |