Incidental Mutation 'IGL01583:Acap1'
ID |
91430 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acap1
|
Ensembl Gene |
ENSMUSG00000001588 |
Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 |
Synonyms |
Centb1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01583
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69772503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 536
(S536L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
[ENSMUST00000178597]
|
AlphaFold |
Q8K2H4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001631
AA Change: S724L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001631 Gene: ENSMUSG00000001588 AA Change: S724L
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: S536L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104262 Gene: ENSMUSG00000001588 AA Change: S536L
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,126,753 (GRCm39) |
M329K |
possibly damaging |
Het |
Abce1 |
G |
A |
8: 80,420,076 (GRCm39) |
T300M |
probably damaging |
Het |
Adcy5 |
C |
A |
16: 35,103,883 (GRCm39) |
|
probably benign |
Het |
Ap2b1 |
G |
T |
11: 83,215,437 (GRCm39) |
R127L |
possibly damaging |
Het |
Asxl3 |
T |
G |
18: 22,649,654 (GRCm39) |
S548A |
probably benign |
Het |
Atm |
G |
A |
9: 53,395,547 (GRCm39) |
|
probably benign |
Het |
Cep250 |
T |
C |
2: 155,818,069 (GRCm39) |
V807A |
probably damaging |
Het |
Ces1g |
T |
A |
8: 94,033,587 (GRCm39) |
Y445F |
probably damaging |
Het |
Cnksr3 |
A |
G |
10: 7,070,512 (GRCm39) |
Y241H |
probably benign |
Het |
Col9a1 |
T |
C |
1: 24,224,225 (GRCm39) |
S136P |
unknown |
Het |
Cux2 |
C |
A |
5: 122,012,170 (GRCm39) |
G422W |
probably damaging |
Het |
Cyp1a2 |
A |
T |
9: 57,589,655 (GRCm39) |
M53K |
probably benign |
Het |
Ddx20 |
T |
C |
3: 105,593,986 (GRCm39) |
D123G |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,860,466 (GRCm39) |
L1284* |
probably null |
Het |
Dpp9 |
A |
C |
17: 56,518,666 (GRCm39) |
L46R |
probably benign |
Het |
Elavl1 |
A |
T |
8: 4,351,699 (GRCm39) |
V139E |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,483,144 (GRCm39) |
Y1018C |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,921,261 (GRCm39) |
N78D |
possibly damaging |
Het |
Fubp3 |
C |
T |
2: 31,501,755 (GRCm39) |
|
probably benign |
Het |
Gbx2 |
C |
A |
1: 89,856,559 (GRCm39) |
R277L |
probably damaging |
Het |
Gm128 |
T |
C |
3: 95,148,094 (GRCm39) |
R67G |
possibly damaging |
Het |
Gpc2 |
T |
A |
5: 138,273,792 (GRCm39) |
R469W |
probably damaging |
Het |
Ifi30 |
G |
A |
8: 71,217,407 (GRCm39) |
|
probably benign |
Het |
Kbtbd4 |
T |
C |
2: 90,736,252 (GRCm39) |
S88P |
probably damaging |
Het |
Kif23 |
A |
T |
9: 61,842,750 (GRCm39) |
Y216N |
probably damaging |
Het |
Lgals4 |
A |
G |
7: 28,540,973 (GRCm39) |
D299G |
probably damaging |
Het |
Lmx1b |
A |
G |
2: 33,459,071 (GRCm39) |
S161P |
probably benign |
Het |
Lrcol1 |
T |
A |
5: 110,502,444 (GRCm39) |
S107T |
probably benign |
Het |
Lrrc28 |
A |
T |
7: 67,195,223 (GRCm39) |
|
probably null |
Het |
Ncoa4 |
T |
C |
14: 31,894,884 (GRCm39) |
V42A |
probably benign |
Het |
Nkd2 |
C |
T |
13: 73,969,599 (GRCm39) |
S277N |
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,340,769 (GRCm39) |
L15Q |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,107,968 (GRCm39) |
L1025R |
probably damaging |
Het |
Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
Or5w1 |
G |
T |
2: 87,486,757 (GRCm39) |
C169* |
probably null |
Het |
Piwil4 |
A |
T |
9: 14,645,783 (GRCm39) |
F152I |
probably damaging |
Het |
Plod3 |
T |
C |
5: 137,025,002 (GRCm39) |
S705P |
probably benign |
Het |
Ppp2r2c |
T |
A |
5: 37,026,166 (GRCm39) |
M1K |
probably null |
Het |
Rgs19 |
T |
C |
2: 181,331,246 (GRCm39) |
E129G |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,768,061 (GRCm39) |
S223T |
probably damaging |
Het |
Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
T |
C |
2: 122,527,137 (GRCm39) |
I370V |
probably benign |
Het |
Slco1b2 |
A |
G |
6: 141,609,398 (GRCm39) |
I269M |
possibly damaging |
Het |
Slco1c1 |
A |
G |
6: 141,485,793 (GRCm39) |
Y142C |
probably damaging |
Het |
Slco3a1 |
T |
C |
7: 73,934,198 (GRCm39) |
N658S |
probably benign |
Het |
Sos1 |
A |
T |
17: 80,741,329 (GRCm39) |
S485R |
probably benign |
Het |
Srpk1 |
A |
G |
17: 28,825,291 (GRCm39) |
L127P |
probably damaging |
Het |
St3gal6 |
T |
A |
16: 58,314,033 (GRCm39) |
|
probably benign |
Het |
Stk4 |
T |
A |
2: 163,916,134 (GRCm39) |
M1K |
probably null |
Het |
Tbc1d12 |
A |
G |
19: 38,871,176 (GRCm39) |
E313G |
probably benign |
Het |
Tbk1 |
A |
G |
10: 121,393,134 (GRCm39) |
I472T |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,586,168 (GRCm39) |
R849W |
probably damaging |
Het |
Tle3 |
A |
G |
9: 61,317,307 (GRCm39) |
T381A |
probably benign |
Het |
Tmem82 |
T |
G |
4: 141,341,954 (GRCm39) |
T337P |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,868,149 (GRCm39) |
T220A |
probably benign |
Het |
Ung |
A |
G |
5: 114,275,369 (GRCm39) |
K242E |
possibly damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,571 (GRCm39) |
M32K |
probably benign |
Het |
Vps13d |
T |
G |
4: 144,771,658 (GRCm39) |
D956A |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,594,722 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
|
Posted On |
2013-12-09 |