Incidental Mutation 'IGL01022:Tbc1d22a'
ID |
54010 |
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 # |
IGL01022
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
86098660-86382704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86185756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 282
(D282N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063414]
|
AlphaFold |
Q8R5A6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063414
AA Change: D282N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065721 Gene: ENSMUSG00000051864 AA Change: D282N
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,721 (GRCm39) |
S927P |
probably benign |
Het |
Arfgef1 |
G |
T |
1: 10,244,301 (GRCm39) |
F987L |
probably damaging |
Het |
Asph |
A |
T |
4: 9,601,344 (GRCm39) |
N191K |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,577,099 (GRCm39) |
C71S |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,951,652 (GRCm39) |
S2920T |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,562,308 (GRCm39) |
R1030* |
probably null |
Het |
Chd8 |
T |
C |
14: 52,474,450 (GRCm39) |
T194A |
probably benign |
Het |
Col9a3 |
A |
T |
2: 180,258,227 (GRCm39) |
I549F |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,077,568 (GRCm39) |
N775S |
probably benign |
Het |
Gm10800 |
T |
A |
2: 98,497,576 (GRCm39) |
|
probably benign |
Het |
Gm5117 |
T |
A |
8: 32,228,515 (GRCm39) |
|
noncoding transcript |
Het |
Hap1 |
A |
G |
11: 100,240,374 (GRCm39) |
L112P |
probably benign |
Het |
Hcls1 |
C |
A |
16: 36,771,488 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,507,699 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
A |
1: 128,228,596 (GRCm39) |
I966L |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,474,361 (GRCm39) |
I451F |
possibly damaging |
Het |
Notch4 |
G |
A |
17: 34,784,671 (GRCm39) |
C128Y |
probably damaging |
Het |
Oca2 |
T |
A |
7: 55,974,504 (GRCm39) |
N484K |
probably damaging |
Het |
Or51f1e |
T |
G |
7: 102,747,077 (GRCm39) |
L43R |
probably damaging |
Het |
Or7a42 |
A |
T |
10: 78,791,188 (GRCm39) |
I50F |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,671,066 (GRCm39) |
R1362* |
probably null |
Het |
Sema3a |
C |
T |
5: 13,523,433 (GRCm39) |
T134I |
probably damaging |
Het |
Sfta2 |
C |
T |
17: 35,961,336 (GRCm39) |
T74I |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,353 (GRCm39) |
|
noncoding transcript |
Het |
Spag11a |
A |
T |
8: 19,208,005 (GRCm39) |
Q15H |
probably damaging |
Het |
Tmbim6 |
G |
A |
15: 99,300,003 (GRCm39) |
V40M |
possibly damaging |
Het |
Tmem259 |
A |
G |
10: 79,819,808 (GRCm39) |
V22A |
probably damaging |
Het |
Tnik |
T |
C |
3: 28,679,377 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,424,610 (GRCm39) |
D2002G |
probably benign |
Het |
|
Other mutations in Tbc1d22a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-28 |