Incidental Mutation 'IGL02478:Arap1'
| ID |
295076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arap1
|
| Ensembl Gene |
ENSMUSG00000032812 |
| Gene Name |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
| Synonyms |
Centd2, 2410002L19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 101049332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000155754]
|
| AlphaFold |
Q4LDD4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084895
|
| SMART Domains |
Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
| 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 null
Transcript: ENSMUST00000084896
|
| SMART Domains |
Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
| 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 null
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 null
Transcript: ENSMUST00000107010
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
| 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: ENSMUST00000210162
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,856,018 (GRCm39) |
A42E |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,451,985 (GRCm39) |
F247L |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,585 (GRCm39) |
D1974G |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,656,070 (GRCm39) |
A1360V |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,825,337 (GRCm39) |
T1599S |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,670,190 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,701,794 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,222,055 (GRCm39) |
E452K |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,499,840 (GRCm39) |
P213L |
probably benign |
Het |
| Erbb3 |
T |
A |
10: 128,407,227 (GRCm39) |
R978* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,111,403 (GRCm39) |
C142S |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,695,039 (GRCm39) |
E735G |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,123,864 (GRCm39) |
V174A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,364 (GRCm39) |
L419P |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,814,736 (GRCm39) |
V3490L |
probably benign |
Het |
| Ftcd |
A |
T |
10: 76,417,255 (GRCm39) |
R255* |
probably null |
Het |
| Galc |
T |
C |
12: 98,179,391 (GRCm39) |
N506S |
possibly damaging |
Het |
| Gm20441 |
G |
T |
10: 75,608,644 (GRCm39) |
A26E |
probably damaging |
Het |
| Gm21969 |
T |
G |
4: 139,367,999 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
A |
7: 140,589,787 (GRCm39) |
M89L |
possibly damaging |
Het |
| Ift25 |
T |
A |
4: 107,132,449 (GRCm39) |
S79T |
probably benign |
Het |
| Inmt |
T |
C |
6: 55,150,355 (GRCm39) |
E94G |
probably damaging |
Het |
| Insrr |
G |
A |
3: 87,716,719 (GRCm39) |
G649D |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,692,572 (GRCm39) |
L24P |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,084,593 (GRCm39) |
N506D |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,411,723 (GRCm39) |
D121V |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,461,536 (GRCm39) |
I510V |
probably benign |
Het |
| Mkx |
C |
T |
18: 7,002,418 (GRCm39) |
V43M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,579,235 (GRCm39) |
N108S |
possibly damaging |
Het |
| Mob1b |
T |
C |
5: 88,903,947 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,661,844 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
G |
11: 67,260,204 (GRCm39) |
S1881A |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,558,717 (GRCm39) |
E843G |
probably benign |
Het |
| Ngef |
A |
G |
1: 87,408,301 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,344 (GRCm39) |
I158N |
probably damaging |
Het |
| Osm |
A |
G |
11: 4,189,507 (GRCm39) |
Y97C |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,816,792 (GRCm39) |
L4556Q |
unknown |
Het |
| Pcyox1l |
T |
C |
18: 61,830,780 (GRCm39) |
D364G |
probably benign |
Het |
| Plekha6 |
T |
A |
1: 133,211,031 (GRCm39) |
V467E |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,758,158 (GRCm39) |
S312T |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,194,572 (GRCm39) |
L70Q |
probably damaging |
Het |
| Rnaseh1 |
A |
T |
12: 28,705,662 (GRCm39) |
Y162F |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,275,703 (GRCm39) |
T195S |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,006 (GRCm39) |
L33P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,151,968 (GRCm39) |
C163* |
probably null |
Het |
| Slc25a37 |
A |
T |
14: 69,486,883 (GRCm39) |
N133K |
probably benign |
Het |
| Slitrk3 |
A |
C |
3: 72,958,046 (GRCm39) |
V242G |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,801,845 (GRCm39) |
S82P |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,199 (GRCm39) |
N1417D |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,688,578 (GRCm39) |
V105A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,661 (GRCm39) |
E1763G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,018,624 (GRCm39) |
N1261S |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,055,889 (GRCm39) |
S750P |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,519,786 (GRCm39) |
T568A |
probably benign |
Het |
| Zfp319 |
T |
A |
8: 96,055,721 (GRCm39) |
I161F |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation