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: 0.135)
|
| Stock # |
IGL01420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
31092412-31201245 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 31101819 bp (GRCm38)
|
| 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 |
|---|
| 9530053A07Rik |
T |
A |
7: 28,140,133 (GRCm38) |
M457K |
probably benign |
Het |
| Actr6 |
A |
T |
10: 89,725,165 (GRCm38) |
|
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,703,057 (GRCm38) |
M541K |
possibly damaging |
Het |
| Adgre4 |
T |
C |
17: 55,799,785 (GRCm38) |
|
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,992,363 (GRCm38) |
Y481C |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,858,280 (GRCm38) |
I371F |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,570,338 (GRCm38) |
D261G |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,702,009 (GRCm38) |
H28R |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,454,858 (GRCm38) |
V2026A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 30,051,638 (GRCm38) |
V1697I |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,393,763 (GRCm38) |
H2738R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,841,190 (GRCm38) |
|
probably null |
Het |
| Cep152 |
A |
T |
2: 125,563,652 (GRCm38) |
D1653E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,612,940 (GRCm38) |
I248F |
probably benign |
Het |
| Clcnka |
C |
A |
4: 141,389,332 (GRCm38) |
R536L |
probably benign |
Het |
| Dao |
T |
A |
5: 114,023,820 (GRCm38) |
|
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,345,023 (GRCm38) |
S585P |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,149,759 (GRCm38) |
Q1333* |
probably null |
Het |
| Eps8l2 |
T |
A |
7: 141,357,663 (GRCm38) |
S397T |
probably benign |
Het |
| Fap |
A |
G |
2: 62,504,502 (GRCm38) |
|
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,145,996 (GRCm38) |
T971A |
probably benign |
Het |
| Fbxl17 |
C |
T |
17: 63,385,052 (GRCm38) |
V22M |
probably damaging |
Het |
| Fundc2 |
T |
C |
X: 75,390,865 (GRCm38) |
|
probably benign |
Het |
| Heyl |
C |
A |
4: 123,240,174 (GRCm38) |
Q42K |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,755,872 (GRCm38) |
K30E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,319,650 (GRCm38) |
I2201V |
probably benign |
Het |
| Il34 |
T |
C |
8: 110,742,713 (GRCm38) |
K157E |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,389,044 (GRCm38) |
T116A |
probably damaging |
Het |
| Lpl |
T |
C |
8: 68,887,433 (GRCm38) |
|
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,345,875 (GRCm38) |
L406P |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 108,082,828 (GRCm38) |
R328H |
probably damaging |
Het |
| Nadk2 |
T |
C |
15: 9,102,984 (GRCm38) |
S308P |
probably damaging |
Het |
| Nae1 |
G |
T |
8: 104,523,165 (GRCm38) |
Q225K |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,407,587 (GRCm38) |
P1266S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,157,377 (GRCm38) |
Y6485H |
probably damaging |
Het |
| Nin |
G |
A |
12: 70,045,414 (GRCm38) |
A707V |
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,387,391 (GRCm38) |
T218A |
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,858,632 (GRCm38) |
N135D |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,785,021 (GRCm38) |
L142Q |
probably damaging |
Het |
| Pdgfc |
T |
A |
3: 81,141,443 (GRCm38) |
S53T |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,650,139 (GRCm38) |
V232D |
probably damaging |
Het |
| Pou2f2 |
T |
C |
7: 25,092,952 (GRCm38) |
N493D |
possibly damaging |
Het |
| Rtel1 |
T |
C |
2: 181,354,401 (GRCm38) |
I750T |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 126,292,012 (GRCm38) |
|
probably null |
Het |
| Sec24d |
A |
G |
3: 123,350,009 (GRCm38) |
N603S |
probably benign |
Het |
| Slc38a10 |
T |
A |
11: 120,106,460 (GRCm38) |
E736V |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,291,658 (GRCm38) |
Y559C |
probably benign |
Het |
| Sprr4 |
A |
T |
3: 92,500,384 (GRCm38) |
V37E |
unknown |
Het |
| Sptbn2 |
A |
G |
19: 4,734,125 (GRCm38) |
T632A |
probably benign |
Het |
| Trim31 |
A |
G |
17: 36,898,411 (GRCm38) |
M20V |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,126,509 (GRCm38) |
V376L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,712,076 (GRCm38) |
D25195G |
probably damaging |
Het |
| Tysnd1 |
A |
G |
10: 61,702,051 (GRCm38) |
T503A |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,499,374 (GRCm38) |
I9L |
probably benign |
Het |
| Zfp398 |
A |
G |
6: 47,865,934 (GRCm38) |
M175V |
probably benign |
Het |
|
| Other mutations in Acap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Acap2
|
APN |
16 |
31,139,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01330:Acap2
|
APN |
16 |
31,154,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02064:Acap2
|
APN |
16 |
31,127,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02173:Acap2
|
APN |
16 |
31,108,147 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02453:Acap2
|
APN |
16 |
31,131,257 (GRCm38) |
splice site |
probably null |
|
|
IGL02883:Acap2
|
APN |
16 |
31,096,345 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03203:Acap2
|
APN |
16 |
31,096,345 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03342:Acap2
|
APN |
16 |
31,105,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1251:Acap2
|
UTSW |
16 |
31,108,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1377:Acap2
|
UTSW |
16 |
31,116,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1432:Acap2
|
UTSW |
16 |
31,111,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1546:Acap2
|
UTSW |
16 |
31,104,936 (GRCm38) |
nonsense |
probably null |
|
|
R1594:Acap2
|
UTSW |
16 |
31,127,387 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1829:Acap2
|
UTSW |
16 |
31,110,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1853:Acap2
|
UTSW |
16 |
31,117,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1970:Acap2
|
UTSW |
16 |
31,133,527 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2023:Acap2
|
UTSW |
16 |
31,119,415 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2086:Acap2
|
UTSW |
16 |
31,110,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2145:Acap2
|
UTSW |
16 |
31,105,524 (GRCm38) |
missense |
probably benign |
|
|
R2177:Acap2
|
UTSW |
16 |
31,133,528 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2214:Acap2
|
UTSW |
16 |
31,108,128 (GRCm38) |
missense |
probably benign |
0.19 |
|
R2392:Acap2
|
UTSW |
16 |
31,139,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2438:Acap2
|
UTSW |
16 |
31,117,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2913:Acap2
|
UTSW |
16 |
31,116,069 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4207:Acap2
|
UTSW |
16 |
31,119,427 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4274:Acap2
|
UTSW |
16 |
31,108,114 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4814:Acap2
|
UTSW |
16 |
31,108,126 (GRCm38) |
missense |
probably benign |
|
|
R4860:Acap2
|
UTSW |
16 |
31,103,499 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4860:Acap2
|
UTSW |
16 |
31,103,499 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5310:Acap2
|
UTSW |
16 |
31,133,609 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5345:Acap2
|
UTSW |
16 |
31,108,126 (GRCm38) |
missense |
probably benign |
|
|
R5388:Acap2
|
UTSW |
16 |
31,109,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5551:Acap2
|
UTSW |
16 |
31,104,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5578:Acap2
|
UTSW |
16 |
31,108,114 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6341:Acap2
|
UTSW |
16 |
31,105,546 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6659:Acap2
|
UTSW |
16 |
31,131,315 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6977:Acap2
|
UTSW |
16 |
31,117,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7262:Acap2
|
UTSW |
16 |
31,127,319 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7304:Acap2
|
UTSW |
16 |
31,108,116 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7310:Acap2
|
UTSW |
16 |
31,108,154 (GRCm38) |
nonsense |
probably null |
|
|
R7318:Acap2
|
UTSW |
16 |
31,127,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7514:Acap2
|
UTSW |
16 |
31,154,567 (GRCm38) |
splice site |
probably null |
|
|
R7875:Acap2
|
UTSW |
16 |
31,139,641 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8256:Acap2
|
UTSW |
16 |
31,139,469 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9026:Acap2
|
UTSW |
16 |
31,107,088 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9177:Acap2
|
UTSW |
16 |
31,136,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9252:Acap2
|
UTSW |
16 |
31,101,823 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9268:Acap2
|
UTSW |
16 |
31,136,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9329:Acap2
|
UTSW |
16 |
31,127,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9467:Acap2
|
UTSW |
16 |
31,111,083 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R9528:Acap2
|
UTSW |
16 |
31,111,090 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9762:Acap2
|
UTSW |
16 |
31,110,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation