Incidental Mutation 'IGL01483:Tbc1d22a'
| ID |
88676 |
| 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 # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
86098660-86382704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86275404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 442
(Q442L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063414]
|
| AlphaFold |
Q8R5A6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063414
AA Change: Q442L
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: Q442L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
| Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
| Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
| Ceacam12 |
A |
G |
7: 17,801,446 (GRCm39) |
R142G |
probably benign |
Het |
| Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
| Dyrk1b |
A |
G |
7: 27,882,101 (GRCm39) |
D94G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Fbxo7 |
T |
C |
10: 85,880,445 (GRCm39) |
Y298H |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
| Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,670 (GRCm39) |
D121G |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,081,053 (GRCm39) |
|
probably null |
Het |
| Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
probably damaging |
Het |
| Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
| Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
| Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
| Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
| Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,733 (GRCm39) |
M212I |
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 |
|
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 |
2013-11-18 |
Incidental Mutation