Incidental Mutation 'IGL01574:Matcap2'
| ID |
91193 |
| 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 # |
IGL01574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
22322809-22355977 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22355426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 487
(V487A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034763]
[ENSMUST00000058868]
[ENSMUST00000215715]
[ENSMUST00000216973]
|
| AlphaFold |
Q7TQE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034763
|
| SMART Domains |
Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
28 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
96 |
114 |
5.17e0 |
SMART |
|
low complexity region
|
161 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058868
AA Change: V487A
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: V487A
| 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: ENSMUST00000213133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216973
|
| 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 |
|---|
| Ankrd26 |
T |
G |
6: 118,516,659 (GRCm39) |
T502P |
probably damaging |
Het |
| Apoa4 |
C |
A |
9: 46,154,283 (GRCm39) |
Q295K |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,656,621 (GRCm39) |
C1544G |
probably benign |
Het |
| Ccl7 |
G |
A |
11: 81,937,451 (GRCm39) |
V62I |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,708,247 (GRCm39) |
T284K |
possibly damaging |
Het |
| Ces4a |
A |
T |
8: 105,871,859 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
T |
8: 11,489,306 (GRCm39) |
G1147V |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,448 (GRCm39) |
D428G |
possibly damaging |
Het |
| Itgb2 |
G |
A |
10: 77,393,798 (GRCm39) |
V413I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,135,975 (GRCm39) |
E20A |
possibly damaging |
Het |
| Kank2 |
C |
A |
9: 21,705,900 (GRCm39) |
G373W |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,010,062 (GRCm39) |
I28F |
probably damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,271,572 (GRCm39) |
V818A |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,921,296 (GRCm39) |
Y53C |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,316,488 (GRCm39) |
N772S |
probably benign |
Het |
| Mtmr4 |
C |
T |
11: 87,491,473 (GRCm39) |
T146I |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,017,546 (GRCm39) |
V1152I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,462 (GRCm39) |
D3978E |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,350,403 (GRCm39) |
L416P |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,544,992 (GRCm39) |
M161V |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,046,886 (GRCm39) |
|
probably null |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,257,345 (GRCm39) |
|
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Tmem30c |
T |
A |
16: 57,097,105 (GRCm39) |
I152F |
possibly damaging |
Het |
| Usp2 |
G |
A |
9: 44,005,100 (GRCm39) |
R378H |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,572 (GRCm39) |
I609N |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,836,381 (GRCm39) |
E133D |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,261 (GRCm39) |
|
probably benign |
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 |
|
IGL01666:Matcap2
|
APN |
9 |
22,342,994 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02111:Matcap2
|
APN |
9 |
22,335,475 (GRCm39) |
missense |
probably benign |
|
|
IGL02310:Matcap2
|
APN |
9 |
22,335,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-12-09 |
Incidental Mutation