Incidental Mutation 'R3851:Arap1'
ID |
275922 |
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 |
040899-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3851 (G1)
|
Quality Score |
169 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 101039372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 544
(W544*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000127873]
[ENSMUST00000130016]
[ENSMUST00000155754]
[ENSMUST00000134143]
[ENSMUST00000141083]
[ENSMUST00000148902]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084895
AA Change: W296*
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: W296*
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
AA Change: W544*
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: W544*
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 null
Transcript: ENSMUST00000107010
AA Change: W544*
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: W544*
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: ENSMUST00000155754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152082
|
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 |
noncoding transcript
Transcript: ENSMUST00000213314
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148902
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (36/36) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
Bcl9 |
G |
A |
3: 97,116,969 (GRCm39) |
P575L |
probably damaging |
Het |
Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
Cry1 |
C |
A |
10: 84,982,363 (GRCm39) |
A328S |
probably benign |
Het |
Dclre1a |
A |
T |
19: 56,529,939 (GRCm39) |
N799K |
probably damaging |
Het |
Dnm3 |
A |
T |
1: 162,148,696 (GRCm39) |
|
probably null |
Het |
Dock9 |
A |
T |
14: 121,866,498 (GRCm39) |
|
probably null |
Het |
Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
Drc7 |
C |
T |
8: 95,788,464 (GRCm39) |
Q276* |
probably null |
Het |
Dzip3 |
T |
C |
16: 48,770,376 (GRCm39) |
T389A |
possibly damaging |
Het |
Flnc |
T |
A |
6: 29,453,718 (GRCm39) |
L1801Q |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,490,936 (GRCm39) |
L463P |
probably benign |
Het |
Fnip2 |
G |
C |
3: 79,369,464 (GRCm39) |
H1074D |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
H2-Q5 |
T |
A |
17: 35,613,115 (GRCm39) |
M5K |
unknown |
Het |
Il27ra |
C |
T |
8: 84,767,317 (GRCm39) |
E169K |
probably benign |
Het |
Insyn2a |
A |
G |
7: 134,486,255 (GRCm39) |
V432A |
probably benign |
Het |
Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
Lhfpl3 |
G |
A |
5: 22,980,985 (GRCm39) |
|
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,951,752 (GRCm39) |
|
probably benign |
Het |
Mas1 |
C |
G |
17: 13,060,880 (GRCm39) |
S181T |
probably benign |
Het |
Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
Nubpl |
T |
C |
12: 52,190,810 (GRCm39) |
M65T |
probably damaging |
Het |
Or6c76b |
A |
C |
10: 129,693,016 (GRCm39) |
M210L |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,674,118 (GRCm39) |
I1042T |
possibly damaging |
Het |
Pcdh15 |
C |
A |
10: 74,467,518 (GRCm39) |
S1779Y |
probably damaging |
Het |
Pgm5 |
C |
T |
19: 24,797,567 (GRCm39) |
R205Q |
probably damaging |
Het |
Radil |
T |
C |
5: 142,492,752 (GRCm39) |
D292G |
probably damaging |
Het |
Rbp3 |
C |
A |
14: 33,677,464 (GRCm39) |
H471N |
probably damaging |
Het |
Rgs14 |
T |
A |
13: 55,527,427 (GRCm39) |
L221Q |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
Sult2b1 |
G |
T |
7: 45,379,461 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
Zfp521 |
T |
C |
18: 13,850,808 (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 |
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'- GTCTTAGGATGACACCTCCTCC -3'
(R):5'- GGACCTAAGGTTCTCCCAAGAG -3'
Sequencing Primer
(F):5'- GATGACACCTCCTCCCGACC -3'
(R):5'- TGCTGACACACCGTTAGATATAAGG -3'
|
Posted On |
2015-04-06 |