Incidental Mutation 'R8811:Arap1'
ID |
672407 |
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 |
068646-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8811 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101036403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 397
(R397W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000107010]
[ENSMUST00000127873]
[ENSMUST00000130016]
[ENSMUST00000134143]
[ENSMUST00000141083]
[ENSMUST00000148902]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084895
AA Change: R149W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: R149W
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 damaging
Transcript: ENSMUST00000084896
AA Change: R397W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: R397W
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 damaging
Transcript: ENSMUST00000107010
AA Change: R397W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: R397W
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 |
probably benign
Transcript: ENSMUST00000127873
|
SMART Domains |
Protein: ENSMUSP00000121257 Gene: ENSMUSG00000032812
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130016
|
SMART Domains |
Protein: ENSMUSP00000115850 Gene: ENSMUSG00000032812
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134143
|
SMART Domains |
Protein: ENSMUSP00000115107 Gene: ENSMUSG00000032812
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
SCOP:d1ki1b2
|
68 |
111 |
4e-4 |
SMART |
Blast:PH
|
82 |
111 |
6e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141083
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148902
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (54/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
G |
17: 24,536,212 (GRCm39) |
K485T |
probably benign |
Het |
Abcc12 |
G |
T |
8: 87,280,023 (GRCm39) |
L337M |
probably damaging |
Het |
Adcy4 |
T |
C |
14: 56,010,221 (GRCm39) |
D687G |
probably benign |
Het |
Aldoc |
T |
A |
11: 78,215,610 (GRCm39) |
I98N |
probably damaging |
Het |
Aoah |
T |
A |
13: 21,184,121 (GRCm39) |
V395D |
probably damaging |
Het |
Arl16 |
A |
T |
11: 120,357,526 (GRCm39) |
M63K |
probably damaging |
Het |
Atf7 |
T |
C |
15: 102,502,144 (GRCm39) |
D4G |
probably damaging |
Het |
Atp6v0d2 |
A |
T |
4: 19,922,397 (GRCm39) |
V34D |
probably benign |
Het |
Calhm4 |
T |
A |
10: 33,917,661 (GRCm39) |
K263N |
probably benign |
Het |
Camk1g |
C |
G |
1: 193,044,408 (GRCm39) |
G2A |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,929,001 (GRCm39) |
T302A |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,253,246 (GRCm39) |
V1246A |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,560,139 (GRCm39) |
D1397G |
|
Het |
Ddx39b |
T |
A |
17: 35,463,435 (GRCm39) |
S115T |
probably benign |
Het |
Dnaja3 |
C |
A |
16: 4,514,383 (GRCm39) |
T305K |
probably benign |
Het |
Dusp7 |
C |
G |
9: 106,248,241 (GRCm39) |
H290D |
probably benign |
Het |
Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
Erbin |
C |
T |
13: 104,022,824 (GRCm39) |
R5Q |
probably damaging |
Het |
Fam3b |
T |
C |
16: 97,313,715 (GRCm39) |
|
probably benign |
Het |
Foxn3 |
T |
C |
12: 99,162,951 (GRCm39) |
S317G |
probably benign |
Het |
Gipc1 |
T |
A |
8: 84,388,919 (GRCm39) |
M177K |
possibly damaging |
Het |
Grpel2 |
A |
C |
18: 61,851,823 (GRCm39) |
|
probably benign |
Het |
Htr1a |
G |
C |
13: 105,581,101 (GRCm39) |
A114P |
probably damaging |
Het |
Iqch |
A |
T |
9: 63,452,195 (GRCm39) |
M210K |
possibly damaging |
Het |
Kdelr3 |
T |
C |
15: 79,410,052 (GRCm39) |
I179T |
possibly damaging |
Het |
Lat2 |
C |
T |
5: 134,635,553 (GRCm39) |
|
probably benign |
Het |
Mcrip1 |
A |
G |
11: 120,435,605 (GRCm39) |
V10A |
probably damaging |
Het |
Mib1 |
C |
T |
18: 10,755,643 (GRCm39) |
L350F |
probably benign |
Het |
Nhlrc2 |
T |
A |
19: 56,583,344 (GRCm39) |
V605E |
probably benign |
Het |
Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
Nutm2 |
A |
T |
13: 50,623,989 (GRCm39) |
I229F |
probably benign |
Het |
Or6f1 |
G |
A |
7: 85,970,989 (GRCm39) |
T57M |
probably damaging |
Het |
Phkb |
T |
C |
8: 86,745,156 (GRCm39) |
V611A |
possibly damaging |
Het |
Polg2 |
A |
T |
11: 106,670,208 (GRCm39) |
Y21N |
probably benign |
Het |
Prss28 |
T |
A |
17: 25,528,627 (GRCm39) |
I23N |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 23,030,661 (GRCm39) |
V1856I |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,108,237 (GRCm39) |
I526N |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,180,133 (GRCm39) |
F68S |
probably damaging |
Het |
Slc37a3 |
A |
G |
6: 39,322,274 (GRCm39) |
S377P |
probably damaging |
Het |
Smoc2 |
T |
C |
17: 14,545,896 (GRCm39) |
S62P |
probably damaging |
Het |
Sox4 |
A |
G |
13: 29,136,911 (GRCm39) |
S32P |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,689,541 (GRCm39) |
Q426L |
|
Het |
Synrg |
T |
G |
11: 83,910,410 (GRCm39) |
S937A |
probably benign |
Het |
Tbr1 |
C |
A |
2: 61,642,196 (GRCm39) |
T487K |
possibly damaging |
Het |
Tll2 |
T |
C |
19: 41,195,012 (GRCm39) |
T25A |
probably benign |
Het |
Trim31 |
T |
C |
17: 37,210,875 (GRCm39) |
F169S |
probably benign |
Het |
Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
Tspear |
T |
C |
10: 77,665,463 (GRCm39) |
F83S |
probably benign |
Het |
Ubr5 |
C |
A |
15: 38,041,123 (GRCm39) |
A254S |
|
Het |
Ubtfl1 |
A |
G |
9: 18,321,459 (GRCm39) |
E329G |
probably benign |
Het |
Vmn2r45 |
A |
G |
7: 8,474,881 (GRCm39) |
W716R |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,799,895 (GRCm39) |
M448V |
probably damaging |
Het |
Wwc2 |
T |
G |
8: 48,336,579 (GRCm39) |
I228L |
possibly damaging |
Het |
Zbtb20 |
T |
C |
16: 43,430,857 (GRCm39) |
V383A |
probably benign |
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 |
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'- ACAGGCCTGCAGTCATCATT -3'
(R):5'- ACTCACACACTCATACACTCATATGT -3'
Sequencing Primer
(F):5'- GCAGTCATCATTTCAGCCAACTGG -3'
(R):5'- TTTACACACACACTCACATACACTC -3'
|
Posted On |
2021-04-30 |