Incidental Mutation 'R0604:Acap1'
ID |
55596 |
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 |
038793-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0604 (G1)
|
Quality Score |
198 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69775451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 302
(E302G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
|
AlphaFold |
Q8K2H4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001631
AA Change: E490G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000001631 Gene: ENSMUSG00000001588 AA Change: E490G
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
AA Change: E302G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104262 Gene: ENSMUSG00000001588 AA Change: E302G
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: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adrb2 |
G |
A |
18: 62,311,586 (GRCm39) |
T413I |
possibly damaging |
Het |
Aqr |
T |
C |
2: 113,961,085 (GRCm39) |
K725R |
probably benign |
Het |
Braf |
A |
G |
6: 39,600,631 (GRCm39) |
I662T |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,500 (GRCm39) |
S435P |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,763,170 (GRCm39) |
M2332V |
possibly damaging |
Het |
Clgn |
T |
C |
8: 84,150,823 (GRCm39) |
V496A |
probably benign |
Het |
Dnah17 |
A |
C |
11: 118,012,297 (GRCm39) |
S193R |
probably benign |
Het |
Dntt |
A |
G |
19: 41,041,588 (GRCm39) |
E424G |
probably benign |
Het |
Fam149a |
A |
G |
8: 45,798,045 (GRCm39) |
L492P |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,410 (GRCm39) |
Y126H |
possibly damaging |
Het |
Fgfr3 |
A |
T |
5: 33,890,126 (GRCm39) |
Y96F |
probably damaging |
Het |
Gm4952 |
A |
G |
19: 12,602,036 (GRCm39) |
E148G |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,191,519 (GRCm39) |
L977F |
probably benign |
Het |
Il1r1 |
T |
C |
1: 40,321,406 (GRCm39) |
V6A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,708,189 (GRCm39) |
Q832K |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,425 (GRCm39) |
F1014Y |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,606,823 (GRCm39) |
A536V |
probably damaging |
Het |
Mtrf1 |
T |
C |
14: 79,653,327 (GRCm39) |
V334A |
possibly damaging |
Het |
Or1j21 |
T |
A |
2: 36,684,119 (GRCm39) |
Y290* |
probably null |
Het |
Or2t46 |
T |
A |
11: 58,472,174 (GRCm39) |
M168K |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,727 (GRCm39) |
T184A |
probably benign |
Het |
Pard6g |
A |
G |
18: 80,160,423 (GRCm39) |
S179G |
probably damaging |
Het |
Pierce1 |
C |
A |
2: 28,356,103 (GRCm39) |
R60L |
possibly damaging |
Het |
Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,997 (GRCm39) |
V402D |
probably damaging |
Het |
Rttn |
A |
G |
18: 88,995,882 (GRCm39) |
I222V |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,103,982 (GRCm39) |
S179T |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,444,407 (GRCm39) |
H184L |
probably damaging |
Het |
Vmn1r69 |
A |
G |
7: 10,314,581 (GRCm39) |
V50A |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,510,000 (GRCm39) |
F526L |
possibly damaging |
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 |
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 |
R4562:Acap1
|
UTSW |
11 |
69,776,177 (GRCm39) |
intron |
probably benign |
|
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'- GGCATGAATCCAGGCTTCCTTTTCC -3'
(R):5'- TTCAGCAGCAATGGTGAGCAGG -3'
Sequencing Primer
(F):5'- TCCTGCCTGGAGGTTAGAG -3'
(R):5'- GTCTTTTCAGGAGCAACAGC -3'
|
Posted On |
2013-07-11 |