Incidental Mutation 'R1186:Arap1'
| ID |
102124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arap1
|
| Ensembl Gene |
ENSMUSG00000032812 |
| Gene Name |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
| Synonyms |
Centd2, 2410002L19Rik |
| MMRRC Submission |
039258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1186 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101348067-101412586 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 101404269 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
|
| AlphaFold |
Q4LDD4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084895
|
| SMART Domains |
Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
PH
|
82 |
175 |
2.62e-17 |
SMART |
|
PH
|
195 |
285 |
3.6e-6 |
SMART |
|
ArfGap
|
289 |
415 |
2.4e-22 |
SMART |
|
PH
|
498 |
606 |
1.23e-13 |
SMART |
|
PH
|
616 |
710 |
1.08e0 |
SMART |
|
RhoGAP
|
722 |
904 |
1.35e-63 |
SMART |
|
Pfam:RA
|
926 |
1015 |
1.5e-10 |
PFAM |
|
PH
|
1029 |
1141 |
8.58e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084896
|
| SMART Domains |
Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
3 |
70 |
1.72e-7 |
SMART |
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
PH
|
330 |
423 |
2.62e-17 |
SMART |
|
PH
|
443 |
533 |
3.6e-6 |
SMART |
|
ArfGap
|
537 |
663 |
2.4e-22 |
SMART |
|
PH
|
746 |
854 |
1.23e-13 |
SMART |
|
PH
|
864 |
958 |
1.08e0 |
SMART |
|
RhoGAP
|
970 |
1152 |
1.35e-63 |
SMART |
|
Pfam:RA
|
1174 |
1263 |
6.6e-13 |
PFAM |
|
PH
|
1277 |
1400 |
8e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098243
|
| SMART Domains |
Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
32 |
140 |
1.23e-13 |
SMART |
|
PH
|
150 |
244 |
1.08e0 |
SMART |
|
RhoGAP
|
256 |
438 |
1.35e-63 |
SMART |
|
Pfam:RA
|
460 |
549 |
1.2e-11 |
PFAM |
|
PH
|
563 |
675 |
8.58e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107010
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
3 |
70 |
1.72e-7 |
SMART |
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
PH
|
330 |
423 |
2.62e-17 |
SMART |
|
PH
|
443 |
533 |
3.6e-6 |
SMART |
|
ArfGap
|
537 |
663 |
2.4e-22 |
SMART |
|
PH
|
746 |
854 |
1.23e-13 |
SMART |
|
PH
|
864 |
958 |
1.08e0 |
SMART |
|
RhoGAP
|
970 |
1152 |
1.35e-63 |
SMART |
|
Pfam:RA
|
1174 |
1263 |
1.9e-10 |
PFAM |
|
PH
|
1277 |
1389 |
8.58e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210162
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 95.7%
- 20x: 90.1%
|
| Validation Efficiency |
97% (69/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
G |
A |
10: 21,621,652 (GRCm38) |
R64Q |
probably benign |
Het |
| 4932438A13Rik |
T |
C |
3: 36,996,312 (GRCm38) |
|
probably benign |
Het |
| 9530068E07Rik |
G |
A |
11: 52,403,078 (GRCm38) |
V49I |
probably benign |
Het |
| A2m |
T |
C |
6: 121,661,534 (GRCm38) |
S902P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,470,549 (GRCm38) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,388,509 (GRCm38) |
T1395A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,294,341 (GRCm38) |
|
probably null |
Het |
| Ank3 |
G |
T |
10: 69,867,460 (GRCm38) |
A308S |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,736,309 (GRCm38) |
D769G |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,875,376 (GRCm38) |
S2017P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,875,994 (GRCm38) |
I2704F |
unknown |
Het |
| Crip2 |
G |
A |
12: 113,144,959 (GRCm38) |
|
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 32,916,786 (GRCm38) |
I34V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,754,629 (GRCm38) |
|
probably null |
Het |
| Ddx5 |
T |
C |
11: 106,783,979 (GRCm38) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,515,700 (GRCm38) |
L572Q |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,304,039 (GRCm38) |
A527T |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,785,174 (GRCm38) |
D261G |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,530,586 (GRCm38) |
F468L |
probably damaging |
Het |
| Gabarapl1 |
A |
T |
6: 129,533,405 (GRCm38) |
|
probably benign |
Het |
| Galnt17 |
G |
T |
5: 131,111,742 (GRCm38) |
T179K |
probably damaging |
Het |
| Gm6768 |
A |
C |
12: 119,261,471 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6899 |
C |
T |
11: 26,593,685 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
T |
A |
2: 181,231,128 (GRCm38) |
R2433W |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,814,723 (GRCm38) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,200,460 (GRCm38) |
D229N |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,672,326 (GRCm38) |
L225P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,694,583 (GRCm38) |
I195T |
probably benign |
Het |
| Isyna1 |
C |
A |
8: 70,595,201 (GRCm38) |
N115K |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,078,008 (GRCm38) |
F75S |
probably benign |
Het |
| Ly96 |
A |
G |
1: 16,700,894 (GRCm38) |
D101G |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,878,269 (GRCm38) |
T243A |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,759,403 (GRCm38) |
V48A |
probably benign |
Het |
| Mcpt2 |
C |
T |
14: 56,043,945 (GRCm38) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,717,757 (GRCm38) |
|
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,564,671 (GRCm38) |
G162S |
probably null |
Het |
| Mtfr2 |
G |
A |
10: 20,352,852 (GRCm38) |
C48Y |
probably benign |
Het |
| Naip2 |
AGGG |
AGG |
13: 100,162,037 (GRCm38) |
|
probably null |
Het |
| Naip2 |
C |
T |
13: 100,161,981 (GRCm38) |
A516T |
possibly damaging |
Het |
| Nup107 |
A |
C |
10: 117,777,146 (GRCm38) |
Y292* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,650,024 (GRCm38) |
|
probably benign |
Het |
| Nxpe4 |
A |
C |
9: 48,393,392 (GRCm38) |
N260H |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,208,829 (GRCm38) |
G206R |
probably benign |
Het |
| Olfr1084 |
A |
T |
2: 86,639,463 (GRCm38) |
L82M |
probably damaging |
Het |
| Olfr5 |
T |
C |
7: 6,480,542 (GRCm38) |
I205V |
probably benign |
Het |
| Olfr901 |
T |
C |
9: 38,431,101 (GRCm38) |
V273A |
possibly damaging |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,157 (GRCm38) |
S142P |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,670,451 (GRCm38) |
Y299H |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,026,138 (GRCm38) |
E401V |
probably damaging |
Het |
| Rbm34 |
C |
A |
8: 126,965,447 (GRCm38) |
E182* |
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Senp2 |
T |
C |
16: 22,011,504 (GRCm38) |
S38P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,164,231 (GRCm38) |
|
probably null |
Het |
| Spred1 |
A |
T |
2: 117,177,697 (GRCm38) |
R361S |
possibly damaging |
Het |
| Spry2 |
A |
G |
14: 105,892,907 (GRCm38) |
C282R |
probably damaging |
Het |
| Srp54b |
T |
C |
12: 55,255,528 (GRCm38) |
|
probably benign |
Het |
| Taar8c |
G |
C |
10: 24,101,565 (GRCm38) |
Y116* |
probably null |
Het |
| Tchh |
C |
G |
3: 93,448,046 (GRCm38) |
R1598G |
unknown |
Het |
| Tex15 |
A |
G |
8: 33,571,633 (GRCm38) |
M364V |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,467,131 (GRCm38) |
R662G |
probably damaging |
Het |
| Ttc5 |
G |
A |
14: 50,767,226 (GRCm38) |
Q374* |
probably null |
Het |
| Usp46 |
C |
T |
5: 74,002,122 (GRCm38) |
A312T |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,835,626 (GRCm38) |
L34Q |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,893,892 (GRCm38) |
R122* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,565,067 (GRCm38) |
M78L |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,209,448 (GRCm38) |
I2012N |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,702,083 (GRCm38) |
G461S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,263,949 (GRCm38) |
L161F |
probably damaging |
Het |
|
| Other mutations in Arap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Arap1
|
APN |
7 |
101,388,049 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01311:Arap1
|
APN |
7 |
101,388,136 (GRCm38) |
nonsense |
probably null |
|
|
IGL01349:Arap1
|
APN |
7 |
101,387,152 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL01521:Arap1
|
APN |
7 |
101,400,605 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01869:Arap1
|
APN |
7 |
101,400,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02156:Arap1
|
APN |
7 |
101,388,730 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02320:Arap1
|
APN |
7 |
101,385,029 (GRCm38) |
missense |
probably benign |
|
|
IGL02478:Arap1
|
APN |
7 |
101,400,125 (GRCm38) |
splice site |
probably null |
|
|
R0133:Arap1
|
UTSW |
7 |
101,386,229 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0233:Arap1
|
UTSW |
7 |
101,400,241 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0233:Arap1
|
UTSW |
7 |
101,400,241 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0412:Arap1
|
UTSW |
7 |
101,390,222 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0616:Arap1
|
UTSW |
7 |
101,401,650 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R0838:Arap1
|
UTSW |
7 |
101,400,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0962:Arap1
|
UTSW |
7 |
101,384,914 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1405:Arap1
|
UTSW |
7 |
101,398,436 (GRCm38) |
splice site |
probably null |
|
|
R1405:Arap1
|
UTSW |
7 |
101,398,436 (GRCm38) |
splice site |
probably null |
|
|
R1724:Arap1
|
UTSW |
7 |
101,400,526 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1793:Arap1
|
UTSW |
7 |
101,388,622 (GRCm38) |
missense |
probably benign |
|
|
R1959:Arap1
|
UTSW |
7 |
101,373,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1960:Arap1
|
UTSW |
7 |
101,373,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2020:Arap1
|
UTSW |
7 |
101,401,518 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2128:Arap1
|
UTSW |
7 |
101,409,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3737:Arap1
|
UTSW |
7 |
101,400,277 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3851:Arap1
|
UTSW |
7 |
101,390,165 (GRCm38) |
nonsense |
probably null |
|
|
R4034:Arap1
|
UTSW |
7 |
101,400,277 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4386:Arap1
|
UTSW |
7 |
101,385,571 (GRCm38) |
missense |
probably benign |
|
|
R4435:Arap1
|
UTSW |
7 |
101,390,254 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4779:Arap1
|
UTSW |
7 |
101,404,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4786:Arap1
|
UTSW |
7 |
101,385,005 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4850:Arap1
|
UTSW |
7 |
101,398,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4942:Arap1
|
UTSW |
7 |
101,401,802 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5253:Arap1
|
UTSW |
7 |
101,388,644 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5342:Arap1
|
UTSW |
7 |
101,404,960 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5367:Arap1
|
UTSW |
7 |
101,409,130 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5397:Arap1
|
UTSW |
7 |
101,384,912 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5968:Arap1
|
UTSW |
7 |
101,394,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6052:Arap1
|
UTSW |
7 |
101,404,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6574:Arap1
|
UTSW |
7 |
101,404,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6645:Arap1
|
UTSW |
7 |
101,408,111 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R7060:Arap1
|
UTSW |
7 |
101,409,357 (GRCm38) |
splice site |
probably null |
|
|
R7191:Arap1
|
UTSW |
7 |
101,384,992 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7323:Arap1
|
UTSW |
7 |
101,400,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7349:Arap1
|
UTSW |
7 |
101,390,228 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7516:Arap1
|
UTSW |
7 |
101,409,331 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7922:Arap1
|
UTSW |
7 |
101,404,414 (GRCm38) |
nonsense |
probably null |
|
|
R8034:Arap1
|
UTSW |
7 |
101,394,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8293:Arap1
|
UTSW |
7 |
101,400,934 (GRCm38) |
missense |
probably benign |
|
|
R8493:Arap1
|
UTSW |
7 |
101,386,518 (GRCm38) |
nonsense |
probably null |
|
|
R8810:Arap1
|
UTSW |
7 |
101,404,378 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8811:Arap1
|
UTSW |
7 |
101,387,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8928:Arap1
|
UTSW |
7 |
101,408,117 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8930:Arap1
|
UTSW |
7 |
101,408,117 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8931:Arap1
|
UTSW |
7 |
101,408,117 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8941:Arap1
|
UTSW |
7 |
101,408,117 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9014:Arap1
|
UTSW |
7 |
101,404,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9144:Arap1
|
UTSW |
7 |
101,398,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9164:Arap1
|
UTSW |
7 |
101,391,883 (GRCm38) |
nonsense |
probably null |
|
|
R9215:Arap1
|
UTSW |
7 |
101,400,007 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9340:Arap1
|
UTSW |
7 |
101,388,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9519:Arap1
|
UTSW |
7 |
101,394,739 (GRCm38) |
start gained |
probably benign |
|
|
R9790:Arap1
|
UTSW |
7 |
101,388,169 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9791:Arap1
|
UTSW |
7 |
101,388,169 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGTGGTGAAGAAGTACCAGTCC -3'
(R):5'- GCGTGTGAGTGTCTGAGCACAAAG -3'
Sequencing Primer
(F):5'- CATGGAGGCCATGCTGTTG -3'
(R):5'- TACTAATGTCCATCACAGGGCTTAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation