Incidental Mutation 'R8941:Arap1'
| ID |
680985 |
| 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 |
068781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8941 (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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,679 (GRCm39) |
T103S |
probably benign |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,400 (GRCm39) |
Y291C |
probably damaging |
Het |
| Aass |
A |
T |
6: 23,075,261 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,235 (GRCm39) |
C1284S |
probably damaging |
Het |
| Adora2a |
G |
A |
10: 75,169,559 (GRCm39) |
W341* |
probably null |
Het |
| Afg2a |
T |
A |
3: 37,486,142 (GRCm39) |
L288H |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,915 (GRCm39) |
|
probably benign |
Het |
| Canx |
T |
C |
11: 50,195,270 (GRCm39) |
D266G |
possibly damaging |
Het |
| Cfap57 |
A |
T |
4: 118,426,799 (GRCm39) |
Y1080N |
probably damaging |
Het |
| Chat |
C |
T |
14: 32,130,963 (GRCm39) |
M559I |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,463,305 (GRCm39) |
S1425N |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,783,202 (GRCm39) |
D29G |
probably damaging |
Het |
| Cox15 |
A |
G |
19: 43,732,172 (GRCm39) |
S215P |
probably benign |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,339,698 (GRCm39) |
V362A |
probably damaging |
Het |
| Dio1 |
C |
A |
4: 107,164,147 (GRCm39) |
A57S |
probably benign |
Het |
| F5 |
C |
A |
1: 164,026,440 (GRCm39) |
H1671N |
probably benign |
Het |
| Gm6309 |
A |
G |
5: 146,107,155 (GRCm39) |
Y64H |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,660,743 (GRCm39) |
C731R |
probably damaging |
Het |
| Hmgcl |
G |
A |
4: 135,683,015 (GRCm39) |
A156T |
probably damaging |
Het |
| Il15ra |
A |
T |
2: 11,737,995 (GRCm39) |
T210S |
possibly damaging |
Het |
| Kat8 |
T |
C |
7: 127,524,400 (GRCm39) |
L426P |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,359,496 (GRCm39) |
V14L |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,919,671 (GRCm39) |
H398R |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,991,606 (GRCm39) |
Q1568L |
possibly damaging |
Het |
| Myo18b |
G |
A |
5: 113,022,795 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
C |
A |
4: 48,051,756 (GRCm39) |
P170Q |
possibly damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,208,109 (GRCm39) |
M652V |
probably damaging |
Het |
| Or10n7-ps1 |
A |
T |
9: 39,597,812 (GRCm39) |
*143K |
probably null |
Het |
| Or5b95 |
G |
A |
19: 12,657,471 (GRCm39) |
|
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,815 (GRCm39) |
I325V |
possibly damaging |
Het |
| Pcare |
T |
C |
17: 72,059,137 (GRCm39) |
H180R |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,114,807 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,380 (GRCm39) |
S421P |
probably damaging |
Het |
| Pou6f1 |
T |
A |
15: 100,489,742 (GRCm39) |
D74V |
probably damaging |
Het |
| Prpsap2 |
C |
A |
11: 61,627,870 (GRCm39) |
R202L |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,228,407 (GRCm39) |
L890Q |
probably damaging |
Het |
| Ramp1 |
C |
G |
1: 91,134,137 (GRCm39) |
P97A |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,731,101 (GRCm39) |
D179G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,678,486 (GRCm39) |
F811L |
possibly damaging |
Het |
| Rnf213 |
C |
A |
11: 119,305,250 (GRCm39) |
L494M |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,082,245 (GRCm39) |
N48S |
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,841 (GRCm39) |
V499A |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,430,022 (GRCm39) |
T691A |
probably benign |
Het |
| Sass6 |
T |
C |
3: 116,407,709 (GRCm39) |
V275A |
probably benign |
Het |
| Sdcbp |
T |
C |
4: 6,393,661 (GRCm39) |
S259P |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,673,322 (GRCm39) |
|
probably null |
Het |
| Snrk |
G |
A |
9: 121,989,597 (GRCm39) |
V314I |
probably benign |
Het |
| Tas1r3 |
C |
T |
4: 155,947,600 (GRCm39) |
|
probably null |
Het |
| Tle3 |
T |
A |
9: 61,320,195 (GRCm39) |
V560E |
probably damaging |
Het |
| Trdmt1 |
A |
G |
2: 13,526,918 (GRCm39) |
Y144H |
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,245,100 (GRCm39) |
T567A |
probably benign |
Het |
| Tsbp1 |
A |
C |
17: 34,678,973 (GRCm39) |
R228S |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
| Ube3c |
G |
A |
5: 29,842,769 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,375,311 (GRCm39) |
D375G |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,741,218 (GRCm39) |
M349T |
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 |
|
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 |
|
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'- TTGGCTGGACAATGAACAGG -3'
(R):5'- AAGGTATGTCTCGGTGATGC -3'
Sequencing Primer
(F):5'- AGGAGCCCTGTTCCAGAATG -3'
(R):5'- ATGTCTCGGTGATGCTACTAGCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation