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 |
100997296-101061793 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 101053476 bp (GRCm39)
|
| 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: 21,497,551 (GRCm39) |
R64Q |
probably benign |
Het |
| 9530068E07Rik |
G |
A |
11: 52,293,905 (GRCm39) |
V49I |
probably benign |
Het |
| A2m |
T |
C |
6: 121,638,493 (GRCm39) |
S902P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,361,375 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,306,746 (GRCm39) |
T1395A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,427,412 (GRCm39) |
|
probably null |
Het |
| Ank3 |
G |
T |
10: 69,703,290 (GRCm39) |
A308S |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,050,461 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,955,283 (GRCm39) |
D769G |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,751,122 (GRCm39) |
S2017P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,711,856 (GRCm39) |
I2704F |
unknown |
Het |
| Crip2 |
G |
A |
12: 113,108,579 (GRCm39) |
|
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,135,760 (GRCm39) |
I34V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,025 (GRCm39) |
|
probably null |
Het |
| Ddx5 |
T |
C |
11: 106,674,805 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,406,526 (GRCm39) |
L572Q |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,212,474 (GRCm39) |
A527T |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,627,094 (GRCm39) |
D261G |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,768,043 (GRCm39) |
F468L |
probably damaging |
Het |
| Gabarapl1 |
A |
T |
6: 129,510,368 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
G |
T |
5: 131,140,580 (GRCm39) |
T179K |
probably damaging |
Het |
| Gm6899 |
C |
T |
11: 26,543,685 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,921 (GRCm39) |
R2433W |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,671,920 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,672,326 (GRCm39) |
L225P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,296,307 (GRCm39) |
I195T |
probably benign |
Het |
| Isyna1 |
C |
A |
8: 71,047,851 (GRCm39) |
N115K |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,296,984 (GRCm39) |
F75S |
probably benign |
Het |
| Ly96 |
A |
G |
1: 16,771,118 (GRCm39) |
D101G |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,769,096 (GRCm39) |
T243A |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,892,470 (GRCm39) |
V48A |
probably benign |
Het |
| Mcpt2 |
C |
T |
14: 56,281,402 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,608,583 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,428,067 (GRCm39) |
G162S |
probably null |
Het |
| Mtfr2 |
G |
A |
10: 20,228,598 (GRCm39) |
C48Y |
probably benign |
Het |
| Naip2 |
AGGG |
AGG |
13: 100,298,545 (GRCm39) |
|
probably null |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ncoa4-ps |
A |
C |
12: 119,225,206 (GRCm39) |
|
noncoding transcript |
Het |
| Nup107 |
A |
C |
10: 117,613,051 (GRCm39) |
Y292* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,807,367 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
A |
C |
9: 48,304,692 (GRCm39) |
N260H |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,541 (GRCm39) |
I205V |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,342,397 (GRCm39) |
V273A |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,453 (GRCm39) |
S142P |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,807 (GRCm39) |
L82M |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,808,514 (GRCm39) |
Y299H |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,110,595 (GRCm39) |
E401V |
probably damaging |
Het |
| Rbm34 |
C |
A |
8: 127,692,197 (GRCm39) |
E182* |
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Senp2 |
T |
C |
16: 21,830,254 (GRCm39) |
S38P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,055,057 (GRCm39) |
|
probably null |
Het |
| Spred1 |
A |
T |
2: 117,008,178 (GRCm39) |
R361S |
possibly damaging |
Het |
| Spry2 |
A |
G |
14: 106,130,341 (GRCm39) |
C282R |
probably damaging |
Het |
| Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
| Taar8c |
G |
C |
10: 23,977,463 (GRCm39) |
Y116* |
probably null |
Het |
| Tchh |
C |
G |
3: 93,355,353 (GRCm39) |
R1598G |
unknown |
Het |
| Tex15 |
A |
G |
8: 34,061,661 (GRCm39) |
M364V |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,778,057 (GRCm39) |
R662G |
probably damaging |
Het |
| Ttc5 |
G |
A |
14: 51,004,683 (GRCm39) |
Q374* |
probably null |
Het |
| Usp46 |
C |
T |
5: 74,162,783 (GRCm39) |
A312T |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,535,051 (GRCm39) |
L34Q |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,317 (GRCm39) |
R122* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,488 (GRCm39) |
M78L |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,227,573 (GRCm39) |
I2012N |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,310,723 (GRCm39) |
L161F |
probably damaging |
Het |
|
| Other mutations in Arap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Arap1
|
APN |
7 |
101,037,256 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01311:Arap1
|
APN |
7 |
101,037,343 (GRCm39) |
nonsense |
probably null |
|
|
IGL01349:Arap1
|
APN |
7 |
101,036,359 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01521:Arap1
|
APN |
7 |
101,049,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01869:Arap1
|
APN |
7 |
101,049,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Arap1
|
APN |
7 |
101,037,937 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02320:Arap1
|
APN |
7 |
101,034,236 (GRCm39) |
missense |
probably benign |
|
|
IGL02478:Arap1
|
APN |
7 |
101,049,332 (GRCm39) |
splice site |
probably null |
|
|
R0133:Arap1
|
UTSW |
7 |
101,035,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0233:Arap1
|
UTSW |
7 |
101,049,448 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0233:Arap1
|
UTSW |
7 |
101,049,448 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0412:Arap1
|
UTSW |
7 |
101,039,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0616:Arap1
|
UTSW |
7 |
101,050,857 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0838:Arap1
|
UTSW |
7 |
101,049,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Arap1
|
UTSW |
7 |
101,034,121 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1405:Arap1
|
UTSW |
7 |
101,047,643 (GRCm39) |
splice site |
probably null |
|
|
R1405:Arap1
|
UTSW |
7 |
101,047,643 (GRCm39) |
splice site |
probably null |
|
|
R1724:Arap1
|
UTSW |
7 |
101,049,733 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1793:Arap1
|
UTSW |
7 |
101,037,829 (GRCm39) |
missense |
probably benign |
|
|
R1959:Arap1
|
UTSW |
7 |
101,022,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Arap1
|
UTSW |
7 |
101,022,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Arap1
|
UTSW |
7 |
101,050,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2128:Arap1
|
UTSW |
7 |
101,058,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3737:Arap1
|
UTSW |
7 |
101,049,484 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3851:Arap1
|
UTSW |
7 |
101,039,372 (GRCm39) |
nonsense |
probably null |
|
|
R4034:Arap1
|
UTSW |
7 |
101,049,484 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4386:Arap1
|
UTSW |
7 |
101,034,778 (GRCm39) |
missense |
probably benign |
|
|
R4435:Arap1
|
UTSW |
7 |
101,039,461 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4779:Arap1
|
UTSW |
7 |
101,053,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Arap1
|
UTSW |
7 |
101,034,212 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4850:Arap1
|
UTSW |
7 |
101,047,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Arap1
|
UTSW |
7 |
101,051,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5253:Arap1
|
UTSW |
7 |
101,037,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5342:Arap1
|
UTSW |
7 |
101,054,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5367:Arap1
|
UTSW |
7 |
101,058,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5397:Arap1
|
UTSW |
7 |
101,034,119 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5968:Arap1
|
UTSW |
7 |
101,043,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Arap1
|
UTSW |
7 |
101,053,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Arap1
|
UTSW |
7 |
101,053,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Arap1
|
UTSW |
7 |
101,057,318 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7060:Arap1
|
UTSW |
7 |
101,058,564 (GRCm39) |
splice site |
probably null |
|
|
R7191:Arap1
|
UTSW |
7 |
101,034,199 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7323:Arap1
|
UTSW |
7 |
101,049,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Arap1
|
UTSW |
7 |
101,039,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7516:Arap1
|
UTSW |
7 |
101,058,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7922:Arap1
|
UTSW |
7 |
101,053,621 (GRCm39) |
nonsense |
probably null |
|
|
R8034:Arap1
|
UTSW |
7 |
101,043,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Arap1
|
UTSW |
7 |
101,050,141 (GRCm39) |
missense |
probably benign |
|
|
R8493:Arap1
|
UTSW |
7 |
101,035,725 (GRCm39) |
nonsense |
probably null |
|
|
R8810:Arap1
|
UTSW |
7 |
101,053,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8811:Arap1
|
UTSW |
7 |
101,036,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8930:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8931:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8941:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9014:Arap1
|
UTSW |
7 |
101,053,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Arap1
|
UTSW |
7 |
101,047,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9164:Arap1
|
UTSW |
7 |
101,041,090 (GRCm39) |
nonsense |
probably null |
|
|
R9215:Arap1
|
UTSW |
7 |
101,049,214 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9340:Arap1
|
UTSW |
7 |
101,037,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9519:Arap1
|
UTSW |
7 |
101,043,946 (GRCm39) |
start gained |
probably benign |
|
|
R9790:Arap1
|
UTSW |
7 |
101,037,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9791:Arap1
|
UTSW |
7 |
101,037,376 (GRCm39) |
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