Incidental Mutation 'R8930:Arap1'
| ID |
680245 |
| 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 |
068774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8930 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101057324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1355
(R1355Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
|
| AlphaFold |
Q4LDD4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084894
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GAF
|
57 |
181 |
4e-76 |
BLAST |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
GAF
|
235 |
382 |
2.2e-21 |
SMART |
|
GAF
|
404 |
553 |
6.11e-38 |
SMART |
|
HDc
|
648 |
817 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084895
AA Change: R1096Q
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: R1096Q
| 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 |
possibly damaging
Transcript: ENSMUST00000084896
AA Change: R1355Q
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: R1355Q
| 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
AA Change: R630Q
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
AA Change: R630Q
| 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
AA Change: R1344Q
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: R1344Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,629,693 (GRCm39) |
|
probably null |
Het |
| Abl2 |
A |
G |
1: 156,461,402 (GRCm39) |
T435A |
probably damaging |
Het |
| Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
| Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
| Ass1 |
T |
A |
2: 31,382,387 (GRCm39) |
M186K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,507,182 (GRCm39) |
D312G |
probably benign |
Het |
| Btg3 |
T |
A |
16: 78,170,298 (GRCm39) |
N3I |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,294,882 (GRCm39) |
F649L |
probably damaging |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cnksr3 |
A |
T |
10: 7,110,780 (GRCm39) |
V27E |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,580,665 (GRCm39) |
S1512T |
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,217,623 (GRCm39) |
T79A |
probably benign |
Het |
| Defa24 |
T |
C |
8: 22,225,373 (GRCm39) |
Y88H |
probably benign |
Het |
| Dgkz |
C |
T |
2: 91,769,915 (GRCm39) |
R389Q |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,718 (GRCm39) |
D796E |
probably damaging |
Het |
| Dyrk3 |
G |
T |
1: 131,057,293 (GRCm39) |
D293E |
probably damaging |
Het |
| Epb42 |
T |
C |
2: 120,854,767 (GRCm39) |
D606G |
probably benign |
Het |
| Erich5 |
G |
A |
15: 34,453,844 (GRCm39) |
G18S |
probably benign |
Het |
| Fam8a1 |
C |
T |
13: 46,827,868 (GRCm39) |
T352M |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,835 (GRCm39) |
L52Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,910,819 (GRCm39) |
H1728Y |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,662,868 (GRCm39) |
V39A |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,030 (GRCm39) |
V484A |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,842,571 (GRCm39) |
Q492R |
possibly damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,899,318 (GRCm39) |
H36R |
possibly damaging |
Het |
| Insyn2a |
A |
G |
7: 134,500,881 (GRCm39) |
I408T |
probably damaging |
Het |
| Insyn2b |
T |
C |
11: 34,352,707 (GRCm39) |
S250P |
probably benign |
Het |
| Isy1 |
T |
C |
6: 87,798,513 (GRCm39) |
I214V |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,544,010 (GRCm39) |
P853L |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,822,022 (GRCm39) |
T746A |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,234,377 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,300,628 (GRCm39) |
S1469P |
possibly damaging |
Het |
| Mrps30 |
C |
T |
13: 118,523,695 (GRCm39) |
A26T |
probably benign |
Het |
| Mup10 |
T |
A |
4: 60,536,708 (GRCm39) |
T92S |
possibly damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,239 (GRCm39) |
D514G |
possibly damaging |
Het |
| Pacs1 |
T |
A |
19: 5,185,030 (GRCm39) |
S932C |
probably damaging |
Het |
| Pbx2 |
C |
T |
17: 34,813,563 (GRCm39) |
R188C |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,762,989 (GRCm39) |
P536S |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,672,269 (GRCm39) |
I377N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,789,041 (GRCm39) |
K758E |
possibly damaging |
Het |
| Pramel34 |
T |
G |
5: 93,785,944 (GRCm39) |
D112A |
probably benign |
Het |
| Ptprm |
C |
T |
17: 67,263,846 (GRCm39) |
R467H |
probably benign |
Het |
| Scnn1b |
C |
T |
7: 121,502,067 (GRCm39) |
R242C |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,908,134 (GRCm39) |
S19P |
possibly damaging |
Het |
| Slc28a1 |
T |
A |
7: 80,817,715 (GRCm39) |
V528D |
probably benign |
Het |
| Slc6a17 |
G |
T |
3: 107,379,507 (GRCm39) |
Q554K |
probably benign |
Het |
| Spag16 |
G |
A |
1: 70,338,928 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
T |
13: 59,890,015 (GRCm39) |
E184K |
possibly damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,623,117 (GRCm39) |
N377K |
possibly damaging |
Het |
| Stap2 |
A |
G |
17: 56,304,895 (GRCm39) |
S296P |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,740,359 (GRCm39) |
I1178F |
probably damaging |
Het |
| Tomt |
C |
T |
7: 101,550,350 (GRCm39) |
A139T |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,974,967 (GRCm39) |
Q75R |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,583,468 (GRCm39) |
K58E |
probably benign |
Het |
| Utp6 |
A |
G |
11: 79,834,055 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,998 (GRCm39) |
T149A |
probably benign |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,127 (GRCm39) |
V96M |
probably benign |
Het |
| Vmn1r9 |
T |
A |
6: 57,048,666 (GRCm39) |
I247N |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,932,241 (GRCm39) |
C138R |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,940,226 (GRCm39) |
V837E |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,312,707 (GRCm39) |
H59Y |
possibly damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,568,434 (GRCm39) |
D883E |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,368 (GRCm39) |
D187E |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,442 (GRCm39) |
V148A |
probably damaging |
Het |
| Zfp52 |
A |
G |
17: 21,780,692 (GRCm39) |
D180G |
possibly 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 |
|
R1186:Arap1
|
UTSW |
7 |
101,053,476 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- GCTTTGGTGAGAAGGCTTCC -3'
(R):5'- GGGTTACCTGAAAGACTGTACTTC -3'
Sequencing Primer
(F):5'- AGGAGCCCTGTTCCAGAATG -3'
(R):5'- AGACTGTACTTCTAAGGTATGTCTCG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation