Incidental Mutation 'IGL02310:Matcap2'
ID |
287780 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Matcap2
|
Ensembl Gene |
ENSMUSG00000036411 |
Gene Name |
microtubule associated tyrosine carboxypeptidase 2 |
Synonyms |
9530077C05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02310
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
22322809-22355977 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22335724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 114
(Y114C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058868]
[ENSMUST00000214436]
[ENSMUST00000215715]
|
AlphaFold |
Q7TQE7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058868
AA Change: Y114C
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000062120 Gene: ENSMUSG00000036411 AA Change: Y114C
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
100 |
N/A |
INTRINSIC |
DUF1704
|
202 |
511 |
1.28e-137 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214436
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215715
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
T |
A |
10: 88,859,740 (GRCm39) |
K382* |
probably null |
Het |
Apoc2l |
A |
G |
7: 19,405,688 (GRCm39) |
*98Q |
probably null |
Het |
Bcl9l |
A |
G |
9: 44,420,602 (GRCm39) |
Y1299C |
probably damaging |
Het |
Best1 |
T |
A |
19: 9,966,516 (GRCm39) |
H357L |
probably benign |
Het |
Cdc26 |
T |
C |
4: 62,313,266 (GRCm39) |
|
probably benign |
Het |
Esyt2 |
C |
T |
12: 116,329,541 (GRCm39) |
L700F |
probably benign |
Het |
Fkbp15 |
T |
C |
4: 62,258,553 (GRCm39) |
Y138C |
probably damaging |
Het |
Gbp6 |
T |
C |
5: 105,438,841 (GRCm39) |
N16D |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,963,075 (GRCm39) |
D812G |
probably null |
Het |
Hic2 |
G |
A |
16: 17,075,621 (GRCm39) |
R150Q |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Klhl36 |
T |
A |
8: 120,596,356 (GRCm39) |
|
probably null |
Het |
Mug2 |
C |
T |
6: 122,036,082 (GRCm39) |
|
probably benign |
Het |
Or9s14 |
T |
C |
1: 92,535,787 (GRCm39) |
V76A |
possibly damaging |
Het |
Pdcl2 |
A |
T |
5: 76,465,728 (GRCm39) |
I116N |
probably damaging |
Het |
Pip4p1 |
T |
C |
14: 51,166,667 (GRCm39) |
T187A |
possibly damaging |
Het |
Pkn2 |
A |
G |
3: 142,517,341 (GRCm39) |
I482T |
probably damaging |
Het |
Prss53 |
T |
G |
7: 127,485,786 (GRCm39) |
D518A |
probably benign |
Het |
Psme4 |
A |
G |
11: 30,787,484 (GRCm39) |
D1093G |
probably benign |
Het |
Tmcc2 |
A |
T |
1: 132,286,645 (GRCm39) |
I602N |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,619,035 (GRCm39) |
V16115I |
possibly damaging |
Het |
Zbtb21 |
G |
T |
16: 97,752,990 (GRCm39) |
T459K |
possibly damaging |
Het |
|
Other mutations in Matcap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Matcap2
|
APN |
9 |
22,346,460 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01574:Matcap2
|
APN |
9 |
22,355,426 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01666:Matcap2
|
APN |
9 |
22,342,994 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02111:Matcap2
|
APN |
9 |
22,335,475 (GRCm39) |
missense |
probably benign |
|
IGL02638:Matcap2
|
APN |
9 |
22,341,775 (GRCm39) |
nonsense |
probably null |
|
LCD18:Matcap2
|
UTSW |
9 |
22,442,083 (GRCm38) |
intron |
probably benign |
|
R1239:Matcap2
|
UTSW |
9 |
22,335,995 (GRCm39) |
intron |
probably benign |
|
R1519:Matcap2
|
UTSW |
9 |
22,341,671 (GRCm39) |
missense |
probably benign |
0.01 |
R2248:Matcap2
|
UTSW |
9 |
22,355,410 (GRCm39) |
missense |
probably benign |
0.36 |
R2438:Matcap2
|
UTSW |
9 |
22,342,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R4838:Matcap2
|
UTSW |
9 |
22,335,673 (GRCm39) |
missense |
probably damaging |
0.98 |
R5304:Matcap2
|
UTSW |
9 |
22,335,528 (GRCm39) |
missense |
probably benign |
0.28 |
R5418:Matcap2
|
UTSW |
9 |
22,343,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R5460:Matcap2
|
UTSW |
9 |
22,351,216 (GRCm39) |
missense |
probably benign |
0.01 |
R5652:Matcap2
|
UTSW |
9 |
22,335,786 (GRCm39) |
missense |
probably benign |
0.00 |
R6008:Matcap2
|
UTSW |
9 |
22,335,422 (GRCm39) |
nonsense |
probably null |
|
R8334:Matcap2
|
UTSW |
9 |
22,355,414 (GRCm39) |
missense |
probably benign |
0.26 |
R9474:Matcap2
|
UTSW |
9 |
22,343,015 (GRCm39) |
missense |
probably damaging |
0.99 |
R9640:Matcap2
|
UTSW |
9 |
22,351,228 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Posted On |
2015-04-16 |