Incidental Mutation 'R5769:Acap3'
| ID |
446426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acap3
|
| Ensembl Gene |
ENSMUSG00000029033 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
| Synonyms |
Centb5, Kiaa1716-hp |
| MMRRC Submission |
043369-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155986857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 371
(D371V)
|
| 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: D367V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: D367V
| 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: D371V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: D371V
| 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: ENSMUST00000140902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145654
|
| Meta Mutation Damage Score |
0.1121 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,644,595 (GRCm39) |
V160E |
possibly damaging |
Het |
| Abcb1a |
A |
C |
5: 8,733,426 (GRCm39) |
E106A |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,835,981 (GRCm39) |
|
probably null |
Het |
| Coq8a |
A |
G |
1: 180,006,681 (GRCm39) |
Y69H |
probably damaging |
Het |
| Defb33 |
T |
A |
8: 21,387,543 (GRCm39) |
F27I |
possibly damaging |
Het |
| Dhx29 |
T |
A |
13: 113,090,251 (GRCm39) |
L776Q |
probably damaging |
Het |
| Dnah3 |
G |
A |
7: 119,689,175 (GRCm39) |
R80* |
probably null |
Het |
| Dtna |
A |
T |
18: 23,784,611 (GRCm39) |
D646V |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,756,878 (GRCm39) |
D1964V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,271 (GRCm39) |
N575K |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,036 (GRCm39) |
P834L |
probably benign |
Het |
| Fyb2 |
G |
T |
4: 104,870,518 (GRCm39) |
K706N |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,872,841 (GRCm39) |
V738E |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,249 (GRCm39) |
T397A |
probably benign |
Het |
| Gins1 |
A |
T |
2: 150,767,918 (GRCm39) |
E149D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grin2a |
C |
T |
16: 9,579,390 (GRCm39) |
R291K |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,007,819 (GRCm39) |
M646V |
probably benign |
Het |
| Hes6 |
G |
T |
1: 91,340,671 (GRCm39) |
R38S |
probably damaging |
Het |
| Hipk3 |
G |
A |
2: 104,265,298 (GRCm39) |
P667S |
possibly damaging |
Het |
| Jrk |
T |
C |
15: 74,577,917 (GRCm39) |
Q456R |
probably benign |
Het |
| Klf18 |
A |
C |
4: 117,586,162 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,027,581 (GRCm39) |
T708A |
probably damaging |
Het |
| Lyg1 |
T |
C |
1: 37,989,831 (GRCm39) |
S19G |
unknown |
Het |
| Magel2 |
T |
A |
7: 62,027,861 (GRCm39) |
M255K |
probably benign |
Het |
| Mctp1 |
A |
G |
13: 76,907,927 (GRCm39) |
D242G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,952,825 (GRCm39) |
F95L |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,379,995 (GRCm39) |
L1569P |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,747 (GRCm39) |
E940G |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,054,917 (GRCm39) |
F163S |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,841,492 (GRCm39) |
K304R |
possibly damaging |
Het |
| Otud3 |
T |
A |
4: 138,625,421 (GRCm39) |
N211I |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,886,772 (GRCm39) |
L593* |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,091,076 (GRCm39) |
L350Q |
possibly damaging |
Het |
| Pdia4 |
A |
G |
6: 47,792,446 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,975,212 (GRCm39) |
Q223* |
probably null |
Het |
| Plb1 |
G |
A |
5: 32,474,866 (GRCm39) |
V696M |
probably benign |
Het |
| Ppp2r5a |
T |
C |
1: 191,104,863 (GRCm39) |
D61G |
probably benign |
Het |
| Preb |
G |
T |
5: 31,115,635 (GRCm39) |
Y87* |
probably null |
Het |
| Rdh16f2 |
A |
T |
10: 127,712,758 (GRCm39) |
N252I |
probably benign |
Het |
| Rida |
T |
C |
15: 34,484,704 (GRCm39) |
|
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,251,821 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
A |
3: 72,835,568 (GRCm39) |
K931N |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,158,994 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,137,495 (GRCm39) |
S525P |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,735,141 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
C |
19: 4,501,072 (GRCm39) |
Y326C |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,659,512 (GRCm39) |
|
probably null |
Het |
| Tmem41b |
G |
A |
7: 109,577,945 (GRCm39) |
T113I |
possibly damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,205,907 (GRCm39) |
I463V |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,277,904 (GRCm39) |
D320V |
probably damaging |
Het |
| Ushbp1 |
A |
T |
8: 71,838,863 (GRCm39) |
N570K |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,817 (GRCm39) |
I246F |
possibly damaging |
Het |
| Vmn2r54 |
A |
C |
7: 12,349,209 (GRCm39) |
L791R |
possibly damaging |
Het |
| Washc1 |
A |
T |
17: 66,425,111 (GRCm39) |
T372S |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,198 (GRCm39) |
E296G |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTACCAAGTGAGGAGG -3'
(R):5'- AGGAGCTTGTCTCAACTCCC -3'
Sequencing Primer
(F):5'- CTACCAAGTGAGGAGGCCCAG -3'
(R):5'- CCCAGTTAGAAGGGTCAGCAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation