Incidental Mutation 'R9397:Acap1'
| ID |
710893 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69775672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 455
(S455T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
|
| AlphaFold |
Q8K2H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001631
AA Change: S455T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: S455T
| 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: S267T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: S267T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
T |
G |
14: 5,051,639 (GRCm38) |
V66G |
possibly damaging |
Het |
| A630001G21Rik |
G |
T |
1: 85,653,002 (GRCm39) |
Y55* |
probably null |
Het |
| Abca8a |
G |
A |
11: 109,921,173 (GRCm39) |
T1474I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,259,551 (GRCm39) |
I1962S |
probably damaging |
Het |
| Acbd7 |
G |
A |
2: 3,337,259 (GRCm39) |
|
probably null |
Het |
| Adamts9 |
A |
G |
6: 92,878,444 (GRCm39) |
L541P |
probably damaging |
Het |
| Ankrd49 |
T |
C |
9: 14,692,711 (GRCm39) |
N151S |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,231,115 (GRCm39) |
D58G |
probably damaging |
Het |
| Btbd18 |
G |
T |
2: 84,497,810 (GRCm39) |
A483S |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,094,965 (GRCm39) |
S257P |
probably damaging |
Het |
| Catsper3 |
T |
A |
13: 55,946,725 (GRCm39) |
Y141N |
probably damaging |
Het |
| Cfap54 |
G |
A |
10: 92,833,147 (GRCm39) |
L1160F |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,130,516 (GRCm39) |
G141D |
probably damaging |
Het |
| Duox1 |
C |
T |
2: 122,150,783 (GRCm39) |
T286I |
possibly damaging |
Het |
| Epc2 |
G |
A |
2: 49,378,822 (GRCm39) |
G92E |
probably damaging |
Het |
| Fmnl3 |
C |
T |
15: 99,225,938 (GRCm39) |
|
probably null |
Het |
| Glyatl3 |
G |
A |
17: 41,223,565 (GRCm39) |
R59* |
probably null |
Het |
| Gm3633 |
T |
A |
14: 42,460,400 (GRCm39) |
Q181L |
|
Het |
| Guca1b |
C |
T |
17: 47,696,560 (GRCm39) |
T49M |
probably benign |
Het |
| Hdac9 |
T |
A |
12: 34,353,275 (GRCm39) |
H645L |
probably damaging |
Het |
| Hhip |
T |
C |
8: 80,719,112 (GRCm39) |
R472G |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,765,547 (GRCm39) |
V9A |
probably damaging |
Het |
| Igkv9-123 |
A |
T |
6: 67,931,443 (GRCm39) |
V41D |
probably damaging |
Het |
| Il5ra |
T |
A |
6: 106,721,258 (GRCm39) |
T14S |
probably benign |
Het |
| Ints2 |
A |
G |
11: 86,135,311 (GRCm39) |
S368P |
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,675,244 (GRCm39) |
S470T |
possibly damaging |
Het |
| Kmt2d |
A |
G |
15: 98,747,994 (GRCm39) |
V3110A |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,981,117 (GRCm39) |
N1846D |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,640,922 (GRCm39) |
E3507D |
|
Het |
| Ly6g6c |
A |
G |
17: 35,288,317 (GRCm39) |
N63S |
probably benign |
Het |
| Naprt |
C |
T |
15: 75,763,859 (GRCm39) |
V354I |
probably null |
Het |
| Nars1 |
A |
G |
18: 64,642,327 (GRCm39) |
S172P |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,238,616 (GRCm39) |
A434T |
probably damaging |
Het |
| Or6c5b |
A |
G |
10: 129,245,909 (GRCm39) |
R225G |
possibly damaging |
Het |
| Or7e177 |
T |
C |
9: 20,211,748 (GRCm39) |
I85T |
possibly damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,469,353 (GRCm39) |
D758G |
probably benign |
Het |
| Pkp4 |
G |
A |
2: 59,148,856 (GRCm39) |
W536* |
probably null |
Het |
| Polr3b |
C |
T |
10: 84,467,653 (GRCm39) |
L78F |
possibly damaging |
Het |
| Rasa4 |
T |
A |
5: 136,129,836 (GRCm39) |
V272E |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,040,849 (GRCm39) |
T3836A |
possibly damaging |
Het |
| Tbpl2 |
C |
T |
2: 23,966,070 (GRCm39) |
V308I |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,141 (GRCm39) |
I176K |
probably damaging |
Het |
| Try5 |
A |
T |
6: 41,289,314 (GRCm39) |
F87L |
probably benign |
Het |
| Ttc8 |
G |
T |
12: 98,942,692 (GRCm39) |
G411* |
probably null |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,152 (GRCm39) |
W108* |
probably null |
Het |
| Zdhhc13 |
C |
T |
7: 48,476,628 (GRCm39) |
T581I |
probably benign |
Het |
| Zfp777 |
G |
T |
6: 48,021,190 (GRCm39) |
T144K |
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 |
|
|
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 |
|
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'- TCGCACATAAGCTTCGAAGG -3'
(R):5'- GTTCCAGACCGAAGCATCAC -3'
Sequencing Primer
(F):5'- ATAAGCTTCGAAGGCCCAG -3'
(R):5'- TGTTCAGCAGCAATGGTGAGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation