Incidental Mutation 'R6848:Acap1'
| ID |
534875 |
| 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 |
045022-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6848 (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 69775487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 290
(N290S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
|
| AlphaFold |
Q8K2H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001631
AA Change: N478S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: N478S
| 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 damaging
Transcript: ENSMUST00000108622
AA Change: N290S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: N290S
| 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 |
|
| Meta Mutation Damage Score |
0.9325 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
G |
T |
5: 35,749,528 (GRCm39) |
G218C |
probably damaging |
Het |
| Acsf3 |
G |
A |
8: 123,517,329 (GRCm39) |
G375D |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,840,335 (GRCm39) |
N568K |
possibly damaging |
Het |
| Akr1cl |
G |
A |
1: 65,063,928 (GRCm39) |
T87I |
probably damaging |
Het |
| Brcc3dc |
A |
T |
10: 108,535,451 (GRCm39) |
V168E |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Casp16 |
A |
T |
17: 23,770,053 (GRCm39) |
C175* |
probably null |
Het |
| Cast |
T |
C |
13: 74,844,052 (GRCm39) |
K694R |
possibly damaging |
Het |
| Cep70 |
G |
A |
9: 99,144,954 (GRCm39) |
R100H |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,186,395 (GRCm39) |
A259T |
possibly damaging |
Het |
| Chsy1 |
T |
A |
7: 65,820,785 (GRCm39) |
M340K |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,220,608 (GRCm39) |
S182P |
probably benign |
Het |
| Crlf2 |
A |
C |
5: 109,704,897 (GRCm39) |
F103V |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,159,632 (GRCm39) |
N652S |
probably benign |
Het |
| Ephx4 |
G |
A |
5: 107,574,784 (GRCm39) |
G274D |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,298,601 (GRCm39) |
F517I |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
| Gata3 |
T |
A |
2: 9,863,339 (GRCm39) |
N392Y |
possibly damaging |
Het |
| Gria4 |
C |
T |
9: 4,793,822 (GRCm39) |
V79M |
probably damaging |
Het |
| Grk3 |
A |
C |
5: 113,133,641 (GRCm39) |
N60K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
G |
7: 67,653,927 (GRCm39) |
I155R |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,323,329 (GRCm39) |
L681P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,648,685 (GRCm39) |
M789T |
probably benign |
Het |
| Kit |
A |
T |
5: 75,767,872 (GRCm39) |
Q85L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,355,750 (GRCm39) |
C325* |
probably null |
Het |
| Mcidas |
A |
G |
13: 113,130,419 (GRCm39) |
E5G |
probably benign |
Het |
| Mcm5 |
G |
T |
8: 75,853,918 (GRCm39) |
R724L |
possibly damaging |
Het |
| Nrbp2 |
G |
A |
15: 75,963,332 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,308,084 (GRCm39) |
I655T |
probably damaging |
Het |
| Nsun4 |
T |
C |
4: 115,910,131 (GRCm39) |
D143G |
possibly damaging |
Het |
| Opn3 |
C |
T |
1: 175,490,615 (GRCm39) |
V349M |
probably damaging |
Het |
| Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
| Or5d47 |
A |
T |
2: 87,804,514 (GRCm39) |
V165E |
possibly damaging |
Het |
| Or6d14 |
T |
C |
6: 116,533,736 (GRCm39) |
S117P |
probably damaging |
Het |
| Pank2 |
C |
A |
2: 131,124,546 (GRCm39) |
L297I |
probably damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,704,690 (GRCm39) |
E870V |
probably benign |
Het |
| Pdcd6 |
T |
A |
13: 74,457,959 (GRCm39) |
M71L |
possibly damaging |
Het |
| Phkb |
A |
T |
8: 86,756,246 (GRCm39) |
I847F |
probably damaging |
Het |
| Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
| Pwp2 |
C |
G |
10: 78,020,127 (GRCm39) |
|
probably null |
Het |
| Rbms3 |
A |
G |
9: 117,080,809 (GRCm39) |
Y21H |
probably damaging |
Het |
| Rhbdl1 |
T |
A |
17: 26,055,158 (GRCm39) |
K17* |
probably null |
Het |
| Rp1l1 |
C |
A |
14: 64,265,667 (GRCm39) |
Q418K |
possibly damaging |
Het |
| Scpppq1 |
A |
G |
5: 104,222,603 (GRCm39) |
|
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,898,615 (GRCm39) |
V159E |
possibly damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,849,777 (GRCm39) |
T784A |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,551,544 (GRCm39) |
M279T |
probably damaging |
Het |
| Tmem163 |
A |
T |
1: 127,479,117 (GRCm39) |
V134D |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,409,958 (GRCm38) |
N875S |
possibly damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,853 (GRCm39) |
E205G |
probably benign |
Het |
| Tpsb2 |
T |
A |
17: 25,586,802 (GRCm39) |
Y271* |
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,280,138 (GRCm39) |
|
probably null |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,840 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp740 |
T |
G |
15: 102,117,243 (GRCm39) |
I89S |
probably benign |
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 |
|
|
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'- ACATACTTGGCATGAATCCAGG -3'
(R):5'- AGCCTCGGAGTTCATTTCTC -3'
Sequencing Primer
(F):5'- GCATGAATCCAGGCTTCCTTTTC -3'
(R):5'- GAGTTCATTTCTCCAAAGTCCG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation