Incidental Mutation 'R4850:Arap1'
ID |
373468 |
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 |
042462-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4850 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101047998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 847
(I847T)
|
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: I599T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: I599T
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: I847T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: I847T
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: I133T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095844 Gene: ENSMUSG00000032812 AA Change: I133T
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: I847T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: I847T
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: ENSMUST00000156017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213314
|
Meta Mutation Damage Score |
0.9046 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
99% (79/80) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,709,429 (GRCm39) |
A42T |
probably benign |
Het |
Acsf3 |
T |
C |
8: 123,544,175 (GRCm39) |
V551A |
probably damaging |
Het |
Adgrl2 |
G |
A |
3: 148,564,656 (GRCm39) |
T304I |
probably damaging |
Het |
Akr1d1 |
A |
G |
6: 37,531,522 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
A |
T |
5: 90,412,645 (GRCm39) |
H1226Q |
probably damaging |
Het |
Atad2b |
G |
A |
12: 4,993,251 (GRCm39) |
G257S |
probably benign |
Het |
Cand2 |
A |
T |
6: 115,778,909 (GRCm39) |
T1158S |
probably benign |
Het |
Cic |
G |
A |
7: 24,972,327 (GRCm39) |
R686H |
probably damaging |
Het |
Cldn1 |
T |
A |
16: 26,181,913 (GRCm39) |
T99S |
probably benign |
Het |
Cnga3 |
G |
T |
1: 37,297,087 (GRCm39) |
E173* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
Cryge |
G |
T |
1: 65,090,211 (GRCm39) |
|
probably benign |
Het |
Dsp |
T |
A |
13: 38,376,445 (GRCm39) |
L1410H |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,134,364 (GRCm39) |
T1548A |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,756,878 (GRCm39) |
D1917G |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fn3krp |
A |
T |
11: 121,315,879 (GRCm39) |
H90L |
possibly damaging |
Het |
Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
Gm4847 |
A |
T |
1: 166,469,908 (GRCm39) |
I55K |
probably damaging |
Het |
Gsn |
T |
A |
2: 35,173,912 (GRCm39) |
|
probably null |
Het |
H2bc11 |
G |
T |
13: 22,227,421 (GRCm39) |
|
probably benign |
Het |
Haghl |
T |
C |
17: 26,001,980 (GRCm39) |
|
probably benign |
Het |
Hmg20b |
T |
A |
10: 81,182,761 (GRCm39) |
E139V |
probably damaging |
Het |
Hsd3b6 |
G |
A |
3: 98,715,221 (GRCm39) |
T57I |
probably benign |
Het |
Igkv5-48 |
A |
G |
6: 69,703,780 (GRCm39) |
S42P |
probably damaging |
Het |
Igsf23 |
T |
C |
7: 19,687,859 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,798,112 (GRCm39) |
F874L |
probably damaging |
Het |
Maf1 |
T |
C |
15: 76,237,162 (GRCm39) |
F110L |
possibly damaging |
Het |
Mtpap |
C |
T |
18: 4,387,044 (GRCm39) |
R365W |
probably damaging |
Het |
Mtus1 |
A |
C |
8: 41,537,507 (GRCm39) |
S70A |
possibly damaging |
Het |
Nfatc1 |
T |
A |
18: 80,741,080 (GRCm39) |
T307S |
probably benign |
Het |
Nphs1 |
T |
G |
7: 30,162,657 (GRCm39) |
S379A |
possibly damaging |
Het |
Nup205 |
A |
G |
6: 35,207,465 (GRCm39) |
T1506A |
probably benign |
Het |
Or13f5 |
T |
C |
4: 52,825,450 (GRCm39) |
S18P |
possibly damaging |
Het |
Or8u9 |
T |
A |
2: 86,002,015 (GRCm39) |
I49F |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,860,762 (GRCm39) |
Y606F |
probably damaging |
Het |
Pde7a |
A |
G |
3: 19,297,281 (GRCm39) |
V123A |
probably benign |
Het |
Pex1 |
C |
T |
5: 3,674,426 (GRCm39) |
T809I |
probably benign |
Het |
Prdm13 |
C |
A |
4: 21,678,243 (GRCm39) |
R749L |
possibly damaging |
Het |
Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
Pros1 |
A |
T |
16: 62,705,887 (GRCm39) |
E67V |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,359,063 (GRCm39) |
E417G |
possibly damaging |
Het |
Rangrf |
A |
G |
11: 68,864,466 (GRCm39) |
|
probably null |
Het |
Rp1 |
T |
A |
1: 4,418,898 (GRCm39) |
K738M |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,683,706 (GRCm39) |
D3119E |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,760,638 (GRCm39) |
R1482C |
probably damaging |
Het |
Sbspon |
T |
A |
1: 15,929,192 (GRCm39) |
T200S |
probably damaging |
Het |
Sfxn5 |
T |
C |
6: 85,309,358 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,873,857 (GRCm39) |
I377F |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,786,657 (GRCm39) |
F72L |
probably damaging |
Het |
Slc32a1 |
T |
C |
2: 158,456,112 (GRCm39) |
F256L |
possibly damaging |
Het |
Slco6b1 |
T |
C |
1: 96,839,558 (GRCm39) |
|
noncoding transcript |
Het |
Smpd1 |
A |
G |
7: 105,205,192 (GRCm39) |
H357R |
probably benign |
Het |
Sncaip |
A |
T |
18: 53,004,456 (GRCm39) |
H361L |
probably damaging |
Het |
Tenm2 |
A |
C |
11: 35,914,315 (GRCm39) |
Y2406* |
probably null |
Het |
Terb1 |
T |
A |
8: 105,212,057 (GRCm39) |
H308L |
probably benign |
Het |
Trim61 |
A |
T |
8: 65,466,070 (GRCm39) |
L397H |
probably damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,035,594 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
G |
2: 76,611,899 (GRCm39) |
E9007D |
possibly damaging |
Het |
Urb1 |
A |
T |
16: 90,592,302 (GRCm39) |
C319* |
probably null |
Het |
Vmn2r95 |
T |
C |
17: 18,671,915 (GRCm39) |
Y551H |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
Xdh |
A |
G |
17: 74,205,330 (GRCm39) |
L1045P |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,956,457 (GRCm39) |
I1688T |
possibly damaging |
Het |
Zwint |
T |
A |
10: 72,491,788 (GRCm39) |
|
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 |
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'- TTGACCTTAGCTCATGAGGC -3'
(R):5'- AGGGCTACATCTGCATTGC -3'
Sequencing Primer
(F):5'- ACCTTAGCTCATGAGGCTGCAG -3'
(R):5'- CATCTGCATTGCCGTTGATCTGAG -3'
|
Posted On |
2016-03-01 |