Incidental Mutation 'R4562:Acap1'
ID |
343155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acap1
|
Ensembl Gene |
ENSMUSG00000001588 |
Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 |
Synonyms |
Centb1 |
MMRRC Submission |
041787-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4562 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to T
at 69776177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
|
AlphaFold |
Q8K2H4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001631
|
SMART Domains |
Protein: ENSMUSP00000001631 Gene: ENSMUSG00000001588
Domain | Start | End | E-Value | Type |
Pfam:BAR_3
|
5 |
240 |
2.1e-68 |
PFAM |
PH
|
266 |
362 |
4.42e-15 |
SMART |
ArfGap
|
405 |
527 |
2.42e-50 |
SMART |
ANK
|
606 |
635 |
4.01e0 |
SMART |
ANK
|
639 |
668 |
3.04e0 |
SMART |
ANK
|
672 |
702 |
4.18e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050555
|
SMART Domains |
Protein: ENSMUSP00000059107 Gene: ENSMUSG00000046731
Domain | Start | End | E-Value | Type |
Pfam:BTB_2
|
1 |
73 |
1.8e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108622
|
SMART Domains |
Protein: ENSMUSP00000104262 Gene: ENSMUSG00000001588
Domain | Start | End | E-Value | Type |
PH
|
78 |
174 |
4.42e-15 |
SMART |
ArfGap
|
217 |
339 |
2.42e-50 |
SMART |
ANK
|
418 |
447 |
4.01e0 |
SMART |
ANK
|
451 |
480 |
3.04e0 |
SMART |
ANK
|
484 |
514 |
4.18e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127238
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198919
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
G |
A |
3: 36,120,331 (GRCm39) |
R25K |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,098,215 (GRCm39) |
L309P |
probably damaging |
Het |
Asap2 |
A |
G |
12: 21,162,094 (GRCm39) |
D17G |
probably damaging |
Het |
Atp8b1 |
A |
T |
18: 64,689,962 (GRCm39) |
V590D |
probably damaging |
Het |
Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
Cad |
G |
A |
5: 31,215,477 (GRCm39) |
S96N |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,763,240 (GRCm39) |
T1303A |
probably benign |
Het |
Defa24 |
A |
G |
8: 22,224,523 (GRCm39) |
|
probably benign |
Het |
Dffb |
A |
G |
4: 154,049,913 (GRCm39) |
C317R |
probably damaging |
Het |
Erap1 |
T |
C |
13: 74,821,778 (GRCm39) |
V711A |
probably benign |
Het |
Esco1 |
A |
G |
18: 10,595,074 (GRCm39) |
S71P |
possibly damaging |
Het |
Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
Gm10797 |
A |
G |
10: 67,408,515 (GRCm39) |
|
noncoding transcript |
Het |
Gm10822 |
C |
T |
2: 73,729,833 (GRCm39) |
|
noncoding transcript |
Het |
Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
Ift22 |
A |
G |
5: 136,941,724 (GRCm39) |
E152G |
probably benign |
Het |
Ighv3-5 |
T |
A |
12: 114,226,498 (GRCm39) |
T25S |
possibly damaging |
Het |
Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
Kcna5 |
T |
C |
6: 126,511,303 (GRCm39) |
H275R |
probably benign |
Het |
Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
Klf14 |
G |
A |
6: 30,935,394 (GRCm39) |
A80V |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
T |
A |
11: 58,273,215 (GRCm39) |
|
probably null |
Het |
Mef2b |
G |
A |
8: 70,619,918 (GRCm39) |
D345N |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtmr10 |
C |
T |
7: 63,963,907 (GRCm39) |
T214M |
possibly damaging |
Het |
Or10g9b |
A |
G |
9: 39,917,577 (GRCm39) |
S223P |
probably damaging |
Het |
Or13g1 |
A |
G |
7: 85,956,360 (GRCm39) |
|
probably benign |
Het |
Or4f4b |
A |
T |
2: 111,313,909 (GRCm39) |
M45L |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,459,252 (GRCm39) |
|
probably null |
Het |
P4htm |
T |
C |
9: 108,459,195 (GRCm39) |
S246G |
probably null |
Het |
Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
Pde6b |
A |
G |
5: 108,551,234 (GRCm39) |
K173E |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,873,525 (GRCm39) |
D270G |
probably benign |
Het |
Prr5 |
A |
C |
15: 84,626,114 (GRCm39) |
D63A |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Ryr1 |
C |
A |
7: 28,774,005 (GRCm39) |
|
probably benign |
Het |
Slc4a1ap |
G |
A |
5: 31,689,373 (GRCm39) |
V347M |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,188,265 (GRCm39) |
T904A |
possibly damaging |
Het |
Tln1 |
C |
A |
4: 43,533,598 (GRCm39) |
A2319S |
probably damaging |
Het |
Tm6sf1 |
G |
A |
7: 81,509,209 (GRCm39) |
A5T |
probably damaging |
Het |
Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
Tnfrsf22 |
C |
T |
7: 143,203,313 (GRCm39) |
R19Q |
unknown |
Het |
Tnfsf11 |
T |
C |
14: 78,516,020 (GRCm39) |
D316G |
probably damaging |
Het |
Trerf1 |
G |
A |
17: 47,637,997 (GRCm39) |
|
noncoding transcript |
Het |
Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
Unc79 |
C |
T |
12: 102,957,720 (GRCm39) |
T45I |
probably damaging |
Het |
Usp3 |
G |
T |
9: 66,428,047 (GRCm39) |
|
probably benign |
Het |
Vmn2r-ps158 |
C |
T |
7: 42,672,986 (GRCm39) |
Q130* |
probably null |
Het |
Wdr31 |
A |
C |
4: 62,372,159 (GRCm39) |
L319W |
probably damaging |
Het |
Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
Het |
|
Other mutations in Acap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Acap1
|
APN |
11 |
69,773,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01148:Acap1
|
APN |
11 |
69,781,729 (GRCm39) |
nonsense |
probably null |
|
IGL01398:Acap1
|
APN |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01583:Acap1
|
APN |
11 |
69,772,503 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02002:Acap1
|
APN |
11 |
69,775,286 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02078:Acap1
|
APN |
11 |
69,786,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02083:Acap1
|
APN |
11 |
69,780,336 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02535:Acap1
|
APN |
11 |
69,773,520 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02669:Acap1
|
APN |
11 |
69,785,421 (GRCm39) |
unclassified |
probably benign |
|
IGL03125:Acap1
|
APN |
11 |
69,777,864 (GRCm39) |
missense |
probably damaging |
1.00 |
autobot
|
UTSW |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
Drone
|
UTSW |
11 |
69,781,297 (GRCm39) |
missense |
probably benign |
0.21 |
R0127:Acap1
|
UTSW |
11 |
69,778,043 (GRCm39) |
splice site |
probably benign |
|
R0243:Acap1
|
UTSW |
11 |
69,776,252 (GRCm39) |
missense |
probably damaging |
0.98 |
R0604:Acap1
|
UTSW |
11 |
69,775,451 (GRCm39) |
missense |
probably benign |
0.01 |
R0863:Acap1
|
UTSW |
11 |
69,777,882 (GRCm39) |
missense |
probably damaging |
0.98 |
R1331:Acap1
|
UTSW |
11 |
69,773,202 (GRCm39) |
splice site |
probably null |
|
R1911:Acap1
|
UTSW |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Acap1
|
UTSW |
11 |
69,780,324 (GRCm39) |
missense |
probably benign |
0.41 |
R2411:Acap1
|
UTSW |
11 |
69,776,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R2442:Acap1
|
UTSW |
11 |
69,780,317 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2910:Acap1
|
UTSW |
11 |
69,777,902 (GRCm39) |
splice site |
probably benign |
|
R4164:Acap1
|
UTSW |
11 |
69,780,863 (GRCm39) |
missense |
probably benign |
0.22 |
R4223:Acap1
|
UTSW |
11 |
69,774,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R4676:Acap1
|
UTSW |
11 |
69,780,294 (GRCm39) |
missense |
probably benign |
0.22 |
R4852:Acap1
|
UTSW |
11 |
69,775,202 (GRCm39) |
missense |
probably benign |
0.30 |
R4921:Acap1
|
UTSW |
11 |
69,778,019 (GRCm39) |
missense |
probably damaging |
0.98 |
R4928:Acap1
|
UTSW |
11 |
69,776,641 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5536:Acap1
|
UTSW |
11 |
69,780,133 (GRCm39) |
missense |
probably benign |
0.11 |
R5886:Acap1
|
UTSW |
11 |
69,775,162 (GRCm39) |
missense |
probably benign |
|
R6053:Acap1
|
UTSW |
11 |
69,777,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6196:Acap1
|
UTSW |
11 |
69,777,893 (GRCm39) |
missense |
probably damaging |
0.98 |
R6220:Acap1
|
UTSW |
11 |
69,780,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R6295:Acap1
|
UTSW |
11 |
69,781,413 (GRCm39) |
critical splice donor site |
probably null |
|
R6333:Acap1
|
UTSW |
11 |
69,774,427 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6414:Acap1
|
UTSW |
11 |
69,775,162 (GRCm39) |
missense |
probably benign |
|
R6848:Acap1
|
UTSW |
11 |
69,775,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6952:Acap1
|
UTSW |
11 |
69,776,343 (GRCm39) |
missense |
probably benign |
0.30 |
R7243:Acap1
|
UTSW |
11 |
69,781,297 (GRCm39) |
missense |
probably benign |
0.21 |
R8066:Acap1
|
UTSW |
11 |
69,780,689 (GRCm39) |
missense |
probably benign |
0.05 |
R8691:Acap1
|
UTSW |
11 |
69,781,003 (GRCm39) |
missense |
probably damaging |
0.99 |
R8704:Acap1
|
UTSW |
11 |
69,773,489 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9032:Acap1
|
UTSW |
11 |
69,772,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R9233:Acap1
|
UTSW |
11 |
69,775,484 (GRCm39) |
missense |
probably benign |
0.00 |
R9397:Acap1
|
UTSW |
11 |
69,775,672 (GRCm39) |
missense |
probably damaging |
1.00 |
X0012:Acap1
|
UTSW |
11 |
69,772,515 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Acap1
|
UTSW |
11 |
69,772,549 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Acap1
|
UTSW |
11 |
69,773,269 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGGGCTTTCTAGGATCTCAC -3'
(R):5'- CTCAGGTCTCAGGATACCATGC -3'
Sequencing Primer
(F):5'- GGGCTTTCTAGGATCTCACAACCC -3'
(R):5'- TGCAACTCTGGCCTGTG -3'
|
Posted On |
2015-09-24 |