Incidental Mutation 'IGL01025:Acap3'
ID |
59915 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acap3
|
Ensembl Gene |
ENSMUSG00000029033 |
Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
Synonyms |
Centb5, Kiaa1716-hp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
IGL01025
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 155986676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 335
(V335M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079031]
[ENSMUST00000105584]
|
AlphaFold |
Q6NXL5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079031
AA Change: V331M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078040 Gene: ENSMUSG00000029033 AA Change: V331M
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
PH
|
265 |
361 |
6.35e-16 |
SMART |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
ArfGap
|
399 |
521 |
4.62e-56 |
SMART |
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
low complexity region
|
601 |
617 |
N/A |
INTRINSIC |
low complexity region
|
628 |
650 |
N/A |
INTRINSIC |
low complexity region
|
669 |
686 |
N/A |
INTRINSIC |
ANK
|
696 |
725 |
3.91e-3 |
SMART |
ANK
|
729 |
758 |
2.43e1 |
SMART |
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105584
AA Change: V335M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101209 Gene: ENSMUSG00000029033 AA Change: V335M
Domain | Start | End | E-Value | Type |
Pfam:BAR_3
|
3 |
236 |
4.1e-95 |
PFAM |
PH
|
269 |
365 |
6.35e-16 |
SMART |
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
ArfGap
|
403 |
525 |
4.62e-56 |
SMART |
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
low complexity region
|
673 |
690 |
N/A |
INTRINSIC |
ANK
|
700 |
729 |
3.91e-3 |
SMART |
ANK
|
733 |
762 |
2.43e1 |
SMART |
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126582
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137726
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140902
|
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 |
Apex1 |
C |
T |
14: 51,163,711 (GRCm39) |
L113F |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,100,429 (GRCm39) |
H1218Q |
possibly damaging |
Het |
Cd33 |
C |
T |
7: 43,182,329 (GRCm39) |
V39M |
probably damaging |
Het |
Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,874,054 (GRCm39) |
K1376R |
unknown |
Het |
Cpd |
C |
T |
11: 76,686,439 (GRCm39) |
R963H |
probably damaging |
Het |
Cracd |
A |
G |
5: 76,805,921 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
A |
C |
19: 39,628,376 (GRCm39) |
Y189* |
probably null |
Het |
Dock6 |
T |
C |
9: 21,723,103 (GRCm39) |
E1606G |
possibly damaging |
Het |
Dusp4 |
A |
T |
8: 35,285,666 (GRCm39) |
E309V |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,162,789 (GRCm39) |
I600T |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,894,105 (GRCm39) |
V66A |
probably benign |
Het |
Fktn |
T |
C |
4: 53,737,568 (GRCm39) |
L269P |
possibly damaging |
Het |
Ftsj3 |
A |
G |
11: 106,141,185 (GRCm39) |
I645T |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,534,713 (GRCm39) |
H198R |
probably damaging |
Het |
Fzd7 |
T |
C |
1: 59,523,539 (GRCm39) |
V474A |
probably damaging |
Het |
Gm10295 |
T |
A |
7: 71,000,406 (GRCm39) |
D58V |
unknown |
Het |
Hdlbp |
T |
C |
1: 93,357,891 (GRCm39) |
I337V |
probably benign |
Het |
Hydin |
T |
C |
8: 111,053,033 (GRCm39) |
V235A |
probably benign |
Het |
Igfbp4 |
C |
T |
11: 98,939,069 (GRCm39) |
H30Y |
probably damaging |
Het |
Kcna4 |
T |
C |
2: 107,126,736 (GRCm39) |
V490A |
probably damaging |
Het |
Kcnj13 |
T |
G |
1: 87,314,700 (GRCm39) |
D174A |
probably benign |
Het |
Krt7 |
T |
A |
15: 101,321,302 (GRCm39) |
L373Q |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,614,094 (GRCm39) |
V1288I |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,875,435 (GRCm39) |
D488G |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,216,994 (GRCm39) |
E1121G |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,384,912 (GRCm39) |
N768D |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,622,196 (GRCm39) |
T48A |
probably damaging |
Het |
Naglu |
C |
T |
11: 100,964,773 (GRCm39) |
P287S |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,379,939 (GRCm39) |
V951A |
possibly damaging |
Het |
Nlrp3 |
T |
A |
11: 59,442,713 (GRCm39) |
M755K |
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,052,586 (GRCm39) |
|
probably benign |
Het |
Nt5dc1 |
C |
T |
10: 34,283,553 (GRCm39) |
A79T |
possibly damaging |
Het |
Or10aa3 |
T |
C |
1: 173,878,251 (GRCm39) |
F104S |
probably damaging |
Het |
Or6c205 |
A |
T |
10: 129,086,609 (GRCm39) |
I69F |
possibly damaging |
Het |
Or8b47 |
A |
G |
9: 38,435,029 (GRCm39) |
|
probably benign |
Het |
Otof |
A |
G |
5: 30,541,597 (GRCm39) |
L774P |
possibly damaging |
Het |
Phf20l1 |
C |
T |
15: 66,484,981 (GRCm39) |
R322C |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,279,400 (GRCm39) |
G2973R |
probably benign |
Het |
Plekhg5 |
G |
T |
4: 152,192,983 (GRCm39) |
D613Y |
probably damaging |
Het |
Ppm1h |
T |
A |
10: 122,714,534 (GRCm39) |
|
probably null |
Het |
Pramel31 |
T |
A |
4: 144,089,947 (GRCm39) |
L329Q |
probably damaging |
Het |
Prpf39 |
T |
C |
12: 65,089,255 (GRCm39) |
|
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,460,406 (GRCm39) |
S15P |
unknown |
Het |
Slc22a28 |
G |
T |
19: 8,094,272 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,239,515 (GRCm39) |
L143Q |
probably damaging |
Het |
Sox17 |
T |
C |
1: 4,562,426 (GRCm39) |
D130G |
possibly damaging |
Het |
Stag1 |
A |
G |
9: 100,833,710 (GRCm39) |
T1108A |
possibly damaging |
Het |
Sugp2 |
G |
A |
8: 70,695,185 (GRCm39) |
D53N |
probably damaging |
Het |
Trim33 |
G |
A |
3: 103,261,234 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,629,568 (GRCm39) |
I14291T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,619,869 (GRCm39) |
V15933A |
probably damaging |
Het |
Tulp3 |
A |
C |
6: 128,302,847 (GRCm39) |
I324S |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,301,717 (GRCm39) |
E2089G |
probably damaging |
Het |
Zhx1 |
T |
C |
15: 57,918,075 (GRCm39) |
D57G |
probably benign |
Het |
|
Other mutations in Acap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01815:Acap3
|
APN |
4 |
155,986,644 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02104:Acap3
|
APN |
4 |
155,989,542 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02387:Acap3
|
APN |
4 |
155,986,617 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02544:Acap3
|
APN |
4 |
155,976,867 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03124:Acap3
|
APN |
4 |
155,989,490 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03052:Acap3
|
UTSW |
4 |
155,987,815 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4514001:Acap3
|
UTSW |
4 |
155,987,835 (GRCm39) |
missense |
probably benign |
0.00 |
R0207:Acap3
|
UTSW |
4 |
155,983,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R0452:Acap3
|
UTSW |
4 |
155,986,785 (GRCm39) |
nonsense |
probably null |
|
R1110:Acap3
|
UTSW |
4 |
155,989,856 (GRCm39) |
splice site |
probably null |
|
R1387:Acap3
|
UTSW |
4 |
155,983,937 (GRCm39) |
missense |
probably benign |
0.06 |
R1475:Acap3
|
UTSW |
4 |
155,987,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Acap3
|
UTSW |
4 |
155,980,631 (GRCm39) |
splice site |
probably benign |
|
R2136:Acap3
|
UTSW |
4 |
155,981,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R2149:Acap3
|
UTSW |
4 |
155,990,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Acap3
|
UTSW |
4 |
155,988,319 (GRCm39) |
splice site |
probably null |
|
R2897:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
R2898:Acap3
|
UTSW |
4 |
155,987,916 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2898:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
R3008:Acap3
|
UTSW |
4 |
155,990,139 (GRCm39) |
missense |
probably benign |
0.37 |
R4170:Acap3
|
UTSW |
4 |
155,984,458 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4193:Acap3
|
UTSW |
4 |
155,986,234 (GRCm39) |
missense |
probably benign |
0.07 |
R4822:Acap3
|
UTSW |
4 |
155,986,908 (GRCm39) |
intron |
probably benign |
|
R4882:Acap3
|
UTSW |
4 |
155,990,112 (GRCm39) |
missense |
probably damaging |
0.99 |
R5482:Acap3
|
UTSW |
4 |
155,984,613 (GRCm39) |
missense |
probably benign |
0.00 |
R5655:Acap3
|
UTSW |
4 |
155,981,076 (GRCm39) |
missense |
probably benign |
0.22 |
R5769:Acap3
|
UTSW |
4 |
155,986,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R5943:Acap3
|
UTSW |
4 |
155,983,879 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6236:Acap3
|
UTSW |
4 |
155,989,664 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6259:Acap3
|
UTSW |
4 |
155,980,575 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6790:Acap3
|
UTSW |
4 |
155,987,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Acap3
|
UTSW |
4 |
155,988,306 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7352:Acap3
|
UTSW |
4 |
155,990,168 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7442:Acap3
|
UTSW |
4 |
155,990,078 (GRCm39) |
missense |
probably damaging |
0.98 |
R8722:Acap3
|
UTSW |
4 |
155,990,415 (GRCm39) |
makesense |
probably null |
|
R8810:Acap3
|
UTSW |
4 |
155,990,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R8902:Acap3
|
UTSW |
4 |
155,990,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9182:Acap3
|
UTSW |
4 |
155,989,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R9255:Acap3
|
UTSW |
4 |
155,990,145 (GRCm39) |
missense |
probably benign |
0.07 |
RF008:Acap3
|
UTSW |
4 |
155,989,555 (GRCm39) |
small insertion |
probably benign |
|
RF010:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
RF013:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
RF022:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
RF025:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
RF028:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
RF032:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
RF034:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
RF035:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
RF036:Acap3
|
UTSW |
4 |
155,989,544 (GRCm39) |
small insertion |
probably benign |
|
RF038:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
RF039:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
RF041:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
RF064:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
Z1176:Acap3
|
UTSW |
4 |
155,989,636 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Acap3
|
UTSW |
4 |
155,989,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-07-11 |