Incidental Mutation 'IGL02387:Acap3'
| ID |
291582 |
| 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 # |
IGL02387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 155986617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 311
(L311R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079031]
[ENSMUST00000105584]
|
| AlphaFold |
Q6NXL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079031
AA Change: L311R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: L311R
| 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 |
possibly damaging
Transcript: ENSMUST00000105584
AA Change: L315R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: L315R
| 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: ENSMUST00000140855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140902
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Actr6 |
T |
A |
10: 89,550,846 (GRCm39) |
N316I |
probably damaging |
Het |
| Adarb2 |
T |
A |
13: 8,619,994 (GRCm39) |
V160E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,391,066 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
C |
1: 133,659,627 (GRCm39) |
N445S |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,807 (GRCm39) |
D464G |
probably damaging |
Het |
| Clk2 |
C |
T |
3: 89,083,698 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
A |
C |
17: 32,886,984 (GRCm39) |
T152P |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,952,998 (GRCm39) |
I225F |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,323,490 (GRCm39) |
Q211R |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,263,902 (GRCm39) |
V87E |
possibly damaging |
Het |
| Gm8165 |
T |
C |
14: 43,913,696 (GRCm39) |
E56G |
possibly damaging |
Het |
| Gstp2 |
T |
A |
19: 4,091,094 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
| Insrr |
G |
A |
3: 87,720,434 (GRCm39) |
R1024H |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,826,209 (GRCm39) |
W538R |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,378 (GRCm39) |
I232V |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,933,178 (GRCm39) |
N808K |
probably damaging |
Het |
| Or8h10 |
T |
A |
2: 86,808,193 (GRCm39) |
R316* |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,714 (GRCm39) |
S290P |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,387,978 (GRCm39) |
A734V |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,321 (GRCm39) |
N65I |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,738,044 (GRCm39) |
I1275S |
probably damaging |
Het |
| Sfrp5 |
C |
T |
19: 42,187,468 (GRCm39) |
V201I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,400,929 (GRCm39) |
H987L |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,361 (GRCm39) |
Y2026F |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,572,137 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar8a |
T |
A |
10: 23,953,260 (GRCm39) |
I288N |
possibly damaging |
Het |
| Tpbpb |
T |
G |
13: 61,049,668 (GRCm39) |
*121C |
probably null |
Het |
| Trim29 |
A |
T |
9: 43,236,149 (GRCm39) |
N460I |
probably benign |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,376 (GRCm39) |
I100F |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,274,076 (GRCm39) |
T871A |
probably benign |
Het |
| Vrk1 |
A |
G |
12: 106,036,803 (GRCm39) |
E363G |
probably damaging |
Het |
| Zfyve19 |
C |
T |
2: 119,046,907 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Acap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Acap3
|
APN |
4 |
155,986,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation