Incidental Mutation 'R0838:Arap1'
ID |
78039 |
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 |
039017-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0838 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101049619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 994
(Y994H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000155754]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084895
AA Change: Y746H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: Y746H
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: Y994H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: Y994H
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: ENSMUST00000098243
AA Change: Y280H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095844 Gene: ENSMUSG00000032812 AA Change: Y280H
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: Y994H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: Y994H
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: ENSMUST00000125284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153340
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156017
|
Meta Mutation Damage Score |
0.9675 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
Validation Efficiency |
100% (56/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
T |
A |
7: 130,963,535 (GRCm39) |
M53L |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,550,297 (GRCm39) |
N638D |
possibly damaging |
Het |
Amy2b |
T |
C |
3: 113,058,317 (GRCm39) |
|
noncoding transcript |
Het |
Ap5s1 |
G |
A |
2: 131,053,351 (GRCm39) |
R45K |
probably damaging |
Het |
Arrdc3 |
A |
T |
13: 81,037,366 (GRCm39) |
|
probably benign |
Het |
Bard1 |
G |
A |
1: 71,069,812 (GRCm39) |
T722M |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,350,285 (GRCm39) |
Y89C |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,938,289 (GRCm39) |
S59P |
probably damaging |
Het |
Chit1 |
T |
A |
1: 134,071,075 (GRCm39) |
C51* |
probably null |
Het |
Cilp2 |
G |
T |
8: 70,334,369 (GRCm39) |
H876Q |
probably benign |
Het |
Cyld |
A |
G |
8: 89,467,978 (GRCm39) |
E722G |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dedd2 |
T |
C |
7: 24,910,612 (GRCm39) |
E188G |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,950,930 (GRCm39) |
W2898R |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,343,727 (GRCm39) |
T473A |
probably damaging |
Het |
Fam228a |
T |
A |
12: 4,785,002 (GRCm39) |
H43L |
possibly damaging |
Het |
Fkbp15 |
G |
T |
4: 62,242,363 (GRCm39) |
H530N |
probably damaging |
Het |
Gga1 |
C |
T |
15: 78,776,118 (GRCm39) |
S387L |
probably damaging |
Het |
Gm4868 |
A |
G |
5: 125,925,687 (GRCm39) |
|
noncoding transcript |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
Itgb4 |
A |
C |
11: 115,888,988 (GRCm39) |
|
probably benign |
Het |
Jag1 |
G |
A |
2: 136,935,198 (GRCm39) |
T388I |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,095,514 (GRCm39) |
D551G |
probably damaging |
Het |
Lrp2bp |
A |
G |
8: 46,478,161 (GRCm39) |
D270G |
possibly damaging |
Het |
Map3k19 |
C |
A |
1: 127,751,696 (GRCm39) |
V552F |
probably benign |
Het |
Mixl1 |
A |
T |
1: 180,524,365 (GRCm39) |
D71E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,069,758 (GRCm39) |
I694T |
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,091,322 (GRCm39) |
S198T |
probably benign |
Het |
Npepps |
A |
T |
11: 97,158,518 (GRCm39) |
|
probably benign |
Het |
Nt5c1b |
C |
T |
12: 10,425,071 (GRCm39) |
Q206* |
probably null |
Het |
Or51b17 |
T |
A |
7: 103,542,622 (GRCm39) |
I107F |
probably benign |
Het |
Orm1 |
A |
G |
4: 63,263,394 (GRCm39) |
Y69C |
probably damaging |
Het |
Plscr4 |
T |
A |
9: 92,353,813 (GRCm39) |
|
probably benign |
Het |
Pon1 |
G |
A |
6: 5,175,758 (GRCm39) |
T188I |
possibly damaging |
Het |
Ppm1a |
T |
A |
12: 72,831,094 (GRCm39) |
H206Q |
probably benign |
Het |
Prl8a1 |
G |
A |
13: 27,758,008 (GRCm39) |
R234C |
probably damaging |
Het |
Rfx3 |
C |
T |
19: 27,827,367 (GRCm39) |
R73Q |
possibly damaging |
Het |
Rims2 |
T |
C |
15: 39,544,421 (GRCm39) |
V1466A |
probably benign |
Het |
Sec24d |
T |
A |
3: 123,099,485 (GRCm39) |
F319L |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,694,067 (GRCm39) |
S123P |
possibly damaging |
Het |
Slc1a6 |
A |
T |
10: 78,632,056 (GRCm39) |
D294V |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,736,083 (GRCm39) |
D38E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,890,282 (GRCm39) |
S513P |
possibly damaging |
Het |
Stard3nl |
A |
G |
13: 19,556,756 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,531,323 (GRCm39) |
T2527A |
probably damaging |
Het |
Sult3a1 |
C |
T |
10: 33,755,284 (GRCm39) |
P283L |
probably damaging |
Het |
Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
Txndc16 |
T |
C |
14: 45,402,876 (GRCm39) |
|
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,042,430 (GRCm39) |
L590S |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,111,220 (GRCm39) |
C637S |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,365,118 (GRCm39) |
E93G |
possibly damaging |
Het |
Zfp69 |
T |
C |
4: 120,788,478 (GRCm39) |
N279S |
probably benign |
Het |
Zscan10 |
T |
C |
17: 23,829,008 (GRCm39) |
S407P |
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 |
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'- GTGTACCGCTGTGTGGACTACATC -3'
(R):5'- TCACAGACACCTATCAGGACAGGG -3'
Sequencing Primer
(F):5'- TGTGGACTACATCACGCAGTG -3'
(R):5'- CCCTCTCTATAGTGACTAGAGGAC -3'
|
Posted On |
2013-10-16 |