Incidental Mutation 'IGL01420:Acap2'
ID |
80412 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acap2
|
Ensembl Gene |
ENSMUSG00000049076 |
Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 |
Synonyms |
Centb2, 9530039J15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
IGL01420
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 30920637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
AlphaFold |
Q6ZQK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058033
|
SMART Domains |
Protein: ENSMUSP00000061501 Gene: ENSMUSG00000049076
Domain | Start | End | E-Value | Type |
Pfam:BAR_3
|
5 |
238 |
9.1e-96 |
PFAM |
PH
|
267 |
363 |
1.73e-17 |
SMART |
ArfGap
|
399 |
520 |
2.23e-63 |
SMART |
ANK
|
632 |
661 |
6.71e-2 |
SMART |
ANK
|
665 |
694 |
3.04e0 |
SMART |
ANK
|
698 |
727 |
6.64e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229010
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230614
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231125
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
A |
T |
10: 89,561,027 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,850,916 (GRCm39) |
M541K |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,106,785 (GRCm39) |
|
probably benign |
Het |
Anxa6 |
T |
C |
11: 54,883,189 (GRCm39) |
Y481C |
probably damaging |
Het |
Apbb1ip |
A |
T |
2: 22,748,292 (GRCm39) |
I371F |
possibly damaging |
Het |
Arhgef10l |
T |
C |
4: 140,297,649 (GRCm39) |
D261G |
probably damaging |
Het |
Bche |
T |
C |
3: 73,609,342 (GRCm39) |
H28R |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,104,065 (GRCm39) |
V2026A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,773,595 (GRCm39) |
V1697I |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,301,079 (GRCm39) |
H2738R |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,718,389 (GRCm39) |
|
probably null |
Het |
Cep152 |
A |
T |
2: 125,405,572 (GRCm39) |
D1653E |
possibly damaging |
Het |
Cfap57 |
T |
A |
4: 118,470,137 (GRCm39) |
I248F |
probably benign |
Het |
Clcnka |
C |
A |
4: 141,116,643 (GRCm39) |
R536L |
probably benign |
Het |
Dao |
T |
A |
5: 114,161,881 (GRCm39) |
|
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,175,367 (GRCm39) |
S585P |
possibly damaging |
Het |
Dysf |
C |
T |
6: 84,126,741 (GRCm39) |
Q1333* |
probably null |
Het |
Eps8l2 |
T |
A |
7: 140,937,576 (GRCm39) |
S397T |
probably benign |
Het |
Fap |
A |
G |
2: 62,334,846 (GRCm39) |
|
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,036,822 (GRCm39) |
T971A |
probably benign |
Het |
Fbxl17 |
C |
T |
17: 63,692,047 (GRCm39) |
V22M |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,558 (GRCm39) |
M457K |
probably benign |
Het |
Fundc2 |
T |
C |
X: 74,434,471 (GRCm39) |
|
probably benign |
Het |
Heyl |
C |
A |
4: 123,133,967 (GRCm39) |
Q42K |
probably damaging |
Het |
Hyal4 |
A |
G |
6: 24,755,871 (GRCm39) |
K30E |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,227,071 (GRCm39) |
I2201V |
probably benign |
Het |
Il34 |
T |
C |
8: 111,469,345 (GRCm39) |
K157E |
probably damaging |
Het |
Kcnj13 |
T |
C |
1: 87,316,766 (GRCm39) |
T116A |
probably damaging |
Het |
Lpl |
T |
C |
8: 69,340,085 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
A |
G |
1: 128,273,612 (GRCm39) |
L406P |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,960,027 (GRCm39) |
R328H |
probably damaging |
Het |
Nadk2 |
T |
C |
15: 9,103,072 (GRCm39) |
S308P |
probably damaging |
Het |
Nae1 |
G |
T |
8: 105,249,797 (GRCm39) |
Q225K |
probably benign |
Het |
Ncoa6 |
G |
A |
2: 155,249,507 (GRCm39) |
P1266S |
probably damaging |
Het |
Neb |
A |
G |
2: 52,047,389 (GRCm39) |
Y6485H |
probably damaging |
Het |
Nin |
G |
A |
12: 70,092,188 (GRCm39) |
A707V |
probably benign |
Het |
Nmur1 |
T |
C |
1: 86,315,113 (GRCm39) |
T218A |
probably benign |
Het |
Npr3 |
T |
C |
15: 11,858,718 (GRCm39) |
N135D |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,620,926 (GRCm39) |
L142Q |
probably damaging |
Het |
Pdgfc |
T |
A |
3: 81,048,750 (GRCm39) |
S53T |
probably benign |
Het |
Plxdc2 |
T |
A |
2: 16,654,950 (GRCm39) |
V232D |
probably damaging |
Het |
Pou2f2 |
T |
C |
7: 24,792,377 (GRCm39) |
N493D |
possibly damaging |
Het |
Rtel1 |
T |
C |
2: 180,996,194 (GRCm39) |
I750T |
probably benign |
Het |
Sbk1 |
A |
G |
7: 125,891,184 (GRCm39) |
|
probably null |
Het |
Sec24d |
A |
G |
3: 123,143,658 (GRCm39) |
N603S |
probably benign |
Het |
Slc38a10 |
T |
A |
11: 119,997,286 (GRCm39) |
E736V |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,341,659 (GRCm39) |
Y559C |
probably benign |
Het |
Sprr4 |
A |
T |
3: 92,407,691 (GRCm39) |
V37E |
unknown |
Het |
Sptbn2 |
A |
G |
19: 4,784,153 (GRCm39) |
T632A |
probably benign |
Het |
Trim31 |
A |
G |
17: 37,209,303 (GRCm39) |
M20V |
probably benign |
Het |
Trim65 |
C |
A |
11: 116,017,335 (GRCm39) |
V376L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,542,420 (GRCm39) |
D25195G |
probably damaging |
Het |
Tysnd1 |
A |
G |
10: 61,537,830 (GRCm39) |
T503A |
possibly damaging |
Het |
Vtn |
A |
T |
11: 78,390,200 (GRCm39) |
I9L |
probably benign |
Het |
Zfp398 |
A |
G |
6: 47,842,868 (GRCm39) |
M175V |
probably benign |
Het |
|
Other mutations in Acap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00533:Acap2
|
APN |
16 |
30,958,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01330:Acap2
|
APN |
16 |
30,973,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02064:Acap2
|
APN |
16 |
30,946,146 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02173:Acap2
|
APN |
16 |
30,926,965 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02453:Acap2
|
APN |
16 |
30,950,075 (GRCm39) |
splice site |
probably null |
|
IGL02883:Acap2
|
APN |
16 |
30,915,163 (GRCm39) |
unclassified |
probably benign |
|
IGL03203:Acap2
|
APN |
16 |
30,915,163 (GRCm39) |
unclassified |
probably benign |
|
IGL03342:Acap2
|
APN |
16 |
30,924,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1251:Acap2
|
UTSW |
16 |
30,926,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R1377:Acap2
|
UTSW |
16 |
30,934,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Acap2
|
UTSW |
16 |
30,929,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Acap2
|
UTSW |
16 |
30,923,754 (GRCm39) |
nonsense |
probably null |
|
R1594:Acap2
|
UTSW |
16 |
30,946,205 (GRCm39) |
missense |
probably benign |
0.01 |
R1829:Acap2
|
UTSW |
16 |
30,929,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Acap2
|
UTSW |
16 |
30,936,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Acap2
|
UTSW |
16 |
30,952,345 (GRCm39) |
critical splice donor site |
probably null |
|
R2023:Acap2
|
UTSW |
16 |
30,938,233 (GRCm39) |
missense |
probably damaging |
0.99 |
R2086:Acap2
|
UTSW |
16 |
30,929,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Acap2
|
UTSW |
16 |
30,924,342 (GRCm39) |
missense |
probably benign |
|
R2177:Acap2
|
UTSW |
16 |
30,952,346 (GRCm39) |
critical splice donor site |
probably null |
|
R2214:Acap2
|
UTSW |
16 |
30,926,946 (GRCm39) |
missense |
probably benign |
0.19 |
R2392:Acap2
|
UTSW |
16 |
30,958,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R2438:Acap2
|
UTSW |
16 |
30,936,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R2913:Acap2
|
UTSW |
16 |
30,934,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R4207:Acap2
|
UTSW |
16 |
30,938,245 (GRCm39) |
missense |
probably damaging |
0.99 |
R4274:Acap2
|
UTSW |
16 |
30,926,932 (GRCm39) |
missense |
probably benign |
0.01 |
R4814:Acap2
|
UTSW |
16 |
30,926,944 (GRCm39) |
missense |
probably benign |
|
R4860:Acap2
|
UTSW |
16 |
30,922,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4860:Acap2
|
UTSW |
16 |
30,922,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5310:Acap2
|
UTSW |
16 |
30,952,427 (GRCm39) |
missense |
probably benign |
0.00 |
R5345:Acap2
|
UTSW |
16 |
30,926,944 (GRCm39) |
missense |
probably benign |
|
R5388:Acap2
|
UTSW |
16 |
30,928,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R5551:Acap2
|
UTSW |
16 |
30,923,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R5578:Acap2
|
UTSW |
16 |
30,926,932 (GRCm39) |
missense |
probably benign |
0.00 |
R6341:Acap2
|
UTSW |
16 |
30,924,364 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6659:Acap2
|
UTSW |
16 |
30,950,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R6977:Acap2
|
UTSW |
16 |
30,936,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7262:Acap2
|
UTSW |
16 |
30,946,137 (GRCm39) |
critical splice donor site |
probably null |
|
R7304:Acap2
|
UTSW |
16 |
30,926,934 (GRCm39) |
missense |
probably benign |
0.05 |
R7310:Acap2
|
UTSW |
16 |
30,926,972 (GRCm39) |
nonsense |
probably null |
|
R7318:Acap2
|
UTSW |
16 |
30,946,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7514:Acap2
|
UTSW |
16 |
30,973,385 (GRCm39) |
splice site |
probably null |
|
R7875:Acap2
|
UTSW |
16 |
30,958,459 (GRCm39) |
missense |
probably damaging |
0.99 |
R8256:Acap2
|
UTSW |
16 |
30,958,287 (GRCm39) |
critical splice donor site |
probably null |
|
R9026:Acap2
|
UTSW |
16 |
30,925,906 (GRCm39) |
missense |
probably damaging |
0.99 |
R9177:Acap2
|
UTSW |
16 |
30,955,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R9252:Acap2
|
UTSW |
16 |
30,920,641 (GRCm39) |
critical splice donor site |
probably null |
|
R9268:Acap2
|
UTSW |
16 |
30,955,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R9329:Acap2
|
UTSW |
16 |
30,946,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R9467:Acap2
|
UTSW |
16 |
30,929,901 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9528:Acap2
|
UTSW |
16 |
30,929,908 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9762:Acap2
|
UTSW |
16 |
30,929,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-05 |