Incidental Mutation 'R8704:Acap1'
| ID |
669200 |
| 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 |
068558-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69773489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 628
(Q628R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
[ENSMUST00000178597]
|
| AlphaFold |
Q8K2H4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001631
AA Change: Q628R
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: Q628R
| 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 |
possibly damaging
Transcript: ENSMUST00000108622
AA Change: Q440R
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: Q440R
| 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 |
probably benign
Transcript: ENSMUST00000178597
|
| SMART Domains |
Protein: ENSMUSP00000137492
Gene: ENSMUSG00000094845
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:TMEM95
|
17 |
168 |
3.9e-83 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
G |
T |
7: 76,239,302 (GRCm39) |
|
probably benign |
Het |
| Brf2 |
A |
G |
8: 27,618,499 (GRCm39) |
V35A |
possibly damaging |
Het |
| Chtf8 |
A |
C |
8: 107,612,672 (GRCm39) |
M89R |
probably benign |
Het |
| Copa |
A |
G |
1: 171,931,693 (GRCm39) |
I315V |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,091,147 (GRCm39) |
E229K |
|
Het |
| Etf1 |
T |
C |
18: 35,039,139 (GRCm39) |
E376G |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,137 (GRCm39) |
I2859F |
probably damaging |
Het |
| Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
| Gal3st3 |
T |
C |
19: 5,352,663 (GRCm39) |
V30A |
probably benign |
Het |
| Gars1 |
C |
T |
6: 55,040,215 (GRCm39) |
R381C |
probably damaging |
Het |
| Gjd3 |
C |
T |
11: 98,873,445 (GRCm39) |
R133H |
probably damaging |
Het |
| Haspin |
T |
C |
11: 73,028,828 (GRCm39) |
N87S |
probably benign |
Het |
| Hcrt |
A |
T |
11: 100,652,752 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,668,104 (GRCm39) |
M866K |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,819,802 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Lypd5 |
A |
G |
7: 24,050,982 (GRCm39) |
H31R |
possibly damaging |
Het |
| Mib2 |
A |
G |
4: 155,743,620 (GRCm39) |
M275T |
possibly damaging |
Het |
| Mmp19 |
G |
A |
10: 128,634,703 (GRCm39) |
V440I |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,358,510 (GRCm39) |
E508G |
unknown |
Het |
| Nlrp4a |
A |
T |
7: 26,156,563 (GRCm39) |
I763L |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,711 (GRCm39) |
V123D |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,504,562 (GRCm39) |
H311L |
|
Het |
| Pcdhb1 |
T |
A |
18: 37,399,402 (GRCm39) |
V451D |
possibly damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,625,780 (GRCm39) |
N467D |
probably benign |
Het |
| Ptprc |
G |
A |
1: 138,043,362 (GRCm39) |
T63I |
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Rhobtb2 |
G |
A |
14: 70,031,373 (GRCm39) |
P584L |
probably damaging |
Het |
| Rhoc |
G |
C |
3: 104,699,342 (GRCm39) |
A44P |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,120,477 (GRCm39) |
E435G |
possibly damaging |
Het |
| Stfa1 |
A |
T |
16: 36,105,536 (GRCm39) |
D89V |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,926,105 (GRCm39) |
K316E |
probably damaging |
Het |
| Tsen15 |
A |
T |
1: 152,247,541 (GRCm39) |
Y150* |
probably null |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,087 (GRCm39) |
I105T |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,856,178 (GRCm39) |
D257G |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,058 (GRCm39) |
Y176C |
possibly damaging |
Het |
| Wdr31 |
G |
A |
4: 62,380,442 (GRCm39) |
A87V |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,212,228 (GRCm39) |
T177S |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,397,637 (GRCm39) |
C691R |
probably 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 |
|
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 |
|
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 |
|
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'- GTTTCAGGAACAGGCAAGC -3'
(R):5'- CTCATCAGGGTGCAGGATATG -3'
Sequencing Primer
(F):5'- CGAGCCTAGAGAAGAGAGCTAAATTC -3'
(R):5'- AACTCAGAGATTTGCTGGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation