Incidental Mutation 'R1331:Acap1'
| ID |
156205 |
| 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 |
039396-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1331 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 69773202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000001631]
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
[ENSMUST00000108622]
[ENSMUST00000108622]
[ENSMUST00000178597]
|
| AlphaFold |
Q8K2H4 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
probably null
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 |
probably null
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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198919
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 93.0%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,496,183 (GRCm39) |
D318G |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,002 (GRCm39) |
F748L |
probably benign |
Het |
| Alkbh8 |
T |
A |
9: 3,347,916 (GRCm39) |
|
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,247,449 (GRCm39) |
T178A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,909,359 (GRCm39) |
V509A |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,869,634 (GRCm39) |
E731G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,374,998 (GRCm39) |
V2931A |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,325,853 (GRCm39) |
N207K |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,273,584 (GRCm39) |
W718R |
unknown |
Het |
| Dnah7a |
A |
G |
1: 53,507,828 (GRCm39) |
I3081T |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,615,698 (GRCm39) |
V2977A |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,364,796 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,422,104 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,617,891 (GRCm39) |
V291A |
probably damaging |
Het |
| Glra1 |
A |
C |
11: 55,405,896 (GRCm39) |
S282A |
probably benign |
Het |
| Gm7589 |
C |
A |
9: 59,053,325 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
T |
C |
4: 150,066,872 (GRCm39) |
N505D |
probably benign |
Het |
| Hdlbp |
T |
A |
1: 93,348,853 (GRCm39) |
N566Y |
probably damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,659,254 (GRCm39) |
K514N |
probably damaging |
Het |
| Impdh1 |
A |
T |
6: 29,206,477 (GRCm39) |
V120D |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,465,627 (GRCm39) |
T1360A |
probably benign |
Het |
| Loxhd1 |
C |
T |
18: 77,490,632 (GRCm39) |
P1411S |
possibly damaging |
Het |
| Lpl |
A |
G |
8: 69,349,281 (GRCm39) |
E269G |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,136,701 (GRCm39) |
E2268* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,660,245 (GRCm39) |
E137G |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Mogat2 |
T |
C |
7: 98,872,722 (GRCm39) |
Y154C |
possibly damaging |
Het |
| Myo18a |
C |
G |
11: 77,732,405 (GRCm39) |
I859M |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,756,215 (GRCm39) |
V39A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,584,668 (GRCm39) |
I123N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,977,754 (GRCm39) |
V1966A |
probably benign |
Het |
| Or7g33 |
T |
C |
9: 19,448,842 (GRCm39) |
N128S |
probably benign |
Het |
| Orc3 |
T |
G |
4: 34,599,748 (GRCm39) |
N77T |
probably benign |
Het |
| Penk |
A |
G |
4: 4,134,287 (GRCm39) |
M120T |
probably benign |
Het |
| Phf7 |
G |
A |
14: 30,962,362 (GRCm39) |
Q148* |
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,452,993 (GRCm39) |
R3973C |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,862,109 (GRCm39) |
T264M |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,437 (GRCm39) |
T2070S |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,272,453 (GRCm39) |
F169S |
probably damaging |
Het |
| Rapgef5 |
G |
T |
12: 117,685,084 (GRCm39) |
A278S |
probably benign |
Het |
| Ripor2 |
G |
T |
13: 24,861,824 (GRCm39) |
E203* |
probably null |
Het |
| Setx |
T |
C |
2: 29,069,698 (GRCm39) |
L2501P |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
A |
11: 95,276,689 (GRCm39) |
V56D |
probably damaging |
Het |
| Slc45a4 |
C |
T |
15: 73,458,596 (GRCm39) |
D326N |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,053,086 (GRCm39) |
V89D |
probably benign |
Het |
| Tek |
T |
A |
4: 94,627,943 (GRCm39) |
|
probably benign |
Het |
| Tert |
T |
A |
13: 73,796,473 (GRCm39) |
F1068Y |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,217,670 (GRCm39) |
I205K |
probably damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,562 (GRCm39) |
I257K |
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 |
|
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'- TAATGGCTCCCCAGGTGAACTCTC -3'
(R):5'- TGCCACCATTCTTGGTCACACAG -3'
Sequencing Primer
(F):5'- CCCAGGTGAACTCTCAGTATC -3'
(R):5'- CCATTCTTGGTCACACAGGGTAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation