Incidental Mutation 'R0412:Arap1'
ID |
36718 |
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 |
038614-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0412 (G1)
|
Quality Score |
154 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101039429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 563
(A563D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000127873]
[ENSMUST00000130016]
[ENSMUST00000134143]
[ENSMUST00000155754]
[ENSMUST00000148902]
[ENSMUST00000141083]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084895
AA Change: A315D
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: A315D
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: A563D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: A563D
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 damaging
Transcript: ENSMUST00000107010
AA Change: A563D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: A563D
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: ENSMUST00000155754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148902
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213314
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141083
|
Meta Mutation Damage Score |
0.9282 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.2%
|
Validation Efficiency |
94% (67/71) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
G |
A |
17: 68,203,253 (GRCm39) |
L67F |
probably damaging |
Het |
Atp7b |
G |
T |
8: 22,485,675 (GRCm39) |
|
probably null |
Het |
Auts2 |
A |
G |
5: 131,475,669 (GRCm39) |
F485L |
probably benign |
Het |
Ccdc68 |
A |
G |
18: 70,093,510 (GRCm39) |
E239G |
probably damaging |
Het |
Cdc42bpg |
T |
G |
19: 6,363,487 (GRCm39) |
L449R |
probably damaging |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Ddx41 |
G |
T |
13: 55,678,421 (GRCm39) |
S630Y |
probably damaging |
Het |
Dntt |
T |
C |
19: 41,031,372 (GRCm39) |
L274P |
probably damaging |
Het |
Fhl4 |
G |
T |
10: 84,934,680 (GRCm39) |
H34N |
possibly damaging |
Het |
Filip1 |
A |
T |
9: 79,727,571 (GRCm39) |
N349K |
possibly damaging |
Het |
Gm9894 |
C |
T |
13: 67,913,145 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
A |
G |
11: 97,229,633 (GRCm39) |
S841P |
probably damaging |
Het |
Gpr35 |
G |
T |
1: 92,910,506 (GRCm39) |
V73L |
probably benign |
Het |
Grik5 |
A |
G |
7: 24,713,099 (GRCm39) |
V809A |
possibly damaging |
Het |
H2-T13 |
T |
A |
17: 36,392,413 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,128,283 (GRCm39) |
T451A |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,278,259 (GRCm39) |
V1654M |
probably damaging |
Het |
Htra3 |
G |
T |
5: 35,828,409 (GRCm39) |
A157E |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,902,835 (GRCm39) |
V2405D |
probably damaging |
Het |
Irs3 |
C |
A |
5: 137,642,139 (GRCm39) |
R433L |
probably benign |
Het |
Kcmf1 |
G |
A |
6: 72,825,224 (GRCm39) |
Q239* |
probably null |
Het |
Kcnk9 |
A |
G |
15: 72,384,905 (GRCm39) |
|
probably benign |
Het |
Kif28 |
A |
G |
1: 179,530,091 (GRCm39) |
V622A |
probably benign |
Het |
Klrb1f |
A |
T |
6: 129,031,294 (GRCm39) |
I164F |
probably benign |
Het |
Lama2 |
A |
G |
10: 27,066,621 (GRCm39) |
S1087P |
possibly damaging |
Het |
Mchr1 |
A |
T |
15: 81,119,948 (GRCm39) |
|
probably benign |
Het |
Mcidas |
A |
G |
13: 113,135,677 (GRCm39) |
T367A |
probably damaging |
Het |
Mphosph8 |
A |
C |
14: 56,911,870 (GRCm39) |
K298Q |
probably damaging |
Het |
Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
Mst1 |
A |
C |
9: 107,960,793 (GRCm39) |
D461A |
probably benign |
Het |
Nckap1l |
A |
T |
15: 103,373,079 (GRCm39) |
S311C |
probably benign |
Het |
Or2y1 |
T |
A |
11: 49,385,594 (GRCm39) |
V78E |
probably damaging |
Het |
Or4c125 |
T |
A |
2: 89,170,422 (GRCm39) |
M75L |
probably benign |
Het |
Or5m9b |
C |
T |
2: 85,905,435 (GRCm39) |
A117V |
probably benign |
Het |
Or8c11 |
A |
C |
9: 38,290,090 (GRCm39) |
K298N |
probably damaging |
Het |
Pde3a |
T |
G |
6: 141,444,410 (GRCm39) |
C1073G |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,188,012 (GRCm39) |
D3432G |
probably damaging |
Het |
Ppargc1b |
G |
T |
18: 61,448,932 (GRCm39) |
P130Q |
probably damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,645,213 (GRCm39) |
I228T |
probably damaging |
Het |
Pram1 |
A |
G |
17: 33,860,480 (GRCm39) |
N349S |
probably benign |
Het |
Ranbp6 |
C |
T |
19: 29,789,483 (GRCm39) |
V290I |
possibly damaging |
Het |
Rcan3 |
A |
T |
4: 135,143,914 (GRCm39) |
|
probably null |
Het |
Scn8a |
G |
C |
15: 100,906,187 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
C |
T |
2: 164,835,982 (GRCm39) |
T900M |
probably benign |
Het |
Srsf10 |
A |
G |
4: 135,585,714 (GRCm39) |
Y55C |
probably damaging |
Het |
Syt7 |
G |
T |
19: 10,421,444 (GRCm39) |
E450* |
probably null |
Het |
Tbrg4 |
T |
C |
11: 6,573,832 (GRCm39) |
K130R |
probably benign |
Het |
Tgm7 |
C |
A |
2: 120,931,546 (GRCm39) |
V206F |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,938,955 (GRCm39) |
D67G |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,637,472 (GRCm39) |
K409R |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,590,096 (GRCm39) |
|
probably benign |
Het |
Vmn1r171 |
C |
T |
7: 23,332,080 (GRCm39) |
L102F |
possibly damaging |
Het |
Vmn2r59 |
A |
C |
7: 41,695,916 (GRCm39) |
|
probably benign |
Het |
Vsig2 |
A |
G |
9: 37,453,986 (GRCm39) |
R191G |
probably damaging |
Het |
Wdr86 |
T |
A |
5: 24,923,232 (GRCm39) |
Q153H |
probably benign |
Het |
Wdr87-ps |
C |
G |
7: 29,229,995 (GRCm39) |
|
noncoding transcript |
Het |
Xxylt1 |
T |
A |
16: 30,826,616 (GRCm39) |
N233I |
probably damaging |
Het |
Zfp160 |
A |
T |
17: 21,247,139 (GRCm39) |
E563V |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,315,323 (GRCm39) |
E71D |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,816,099 (GRCm39) |
D862G |
possibly damaging |
Het |
Zfp639 |
A |
C |
3: 32,571,259 (GRCm39) |
Q47P |
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 |
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 |
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'- ATATACCCTTGACTGGTGCCCCAC -3'
(R):5'- GCTCACTTACTTGCCAGATAGCCC -3'
Sequencing Primer
(F):5'- GGTTGTTTCCCAACAGTCTTAG -3'
(R):5'- cattttccctctttgtgtgtcc -3'
|
Posted On |
2013-05-09 |