Incidental Mutation 'R7516:Arap1'
ID |
582464 |
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 |
045589-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7516 (G1)
|
Quality Score |
174.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101058538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1390
(F1390L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084894
|
SMART Domains |
Protein: ENSMUSP00000081956 Gene: ENSMUSG00000030653
Domain | Start | End | E-Value | Type |
Blast:GAF
|
57 |
181 |
4e-76 |
BLAST |
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
GAF
|
235 |
382 |
2.2e-21 |
SMART |
GAF
|
404 |
553 |
6.11e-38 |
SMART |
HDc
|
648 |
817 |
9.04e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084895
AA Change: F1131L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: F1131L
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 benign
Transcript: ENSMUST00000084896
AA Change: F1390L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: F1390L
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
AA Change: F665L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095844 Gene: ENSMUSG00000032812 AA Change: F665L
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 benign
Transcript: ENSMUST00000107010
AA Change: F1379L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: F1379L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
A |
14: 68,868,125 (GRCm39) |
I407F |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
Alkbh5 |
T |
C |
11: 60,429,979 (GRCm39) |
V244A |
probably damaging |
Het |
Asph |
T |
C |
4: 9,630,940 (GRCm39) |
D136G |
possibly damaging |
Het |
Atp8a2 |
A |
T |
14: 60,094,516 (GRCm39) |
Y841N |
probably damaging |
Het |
Cald1 |
A |
T |
6: 34,686,492 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
G |
17: 45,949,766 (GRCm39) |
I400T |
possibly damaging |
Het |
Cdh18 |
T |
A |
15: 23,259,684 (GRCm39) |
|
probably null |
Het |
Ces2h |
T |
A |
8: 105,743,458 (GRCm39) |
L204Q |
probably damaging |
Het |
Chrna3 |
G |
A |
9: 54,922,653 (GRCm39) |
A385V |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,672,009 (GRCm39) |
L311Q |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,721,448 (GRCm39) |
V1149A |
probably benign |
Het |
Clip3 |
T |
A |
7: 29,998,268 (GRCm39) |
V238D |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,520,192 (GRCm39) |
|
probably null |
Het |
Coro2a |
A |
G |
4: 46,562,992 (GRCm39) |
V54A |
probably benign |
Het |
Crem |
T |
C |
18: 3,299,141 (GRCm39) |
|
probably null |
Het |
Dennd5b |
T |
C |
6: 148,969,878 (GRCm39) |
I192V |
probably benign |
Het |
Dst |
A |
G |
1: 34,209,560 (GRCm39) |
N1209S |
probably benign |
Het |
Ero1a |
T |
A |
14: 45,525,480 (GRCm39) |
M385L |
probably benign |
Het |
Fam13a |
A |
T |
6: 58,932,248 (GRCm39) |
V375D |
probably damaging |
Het |
Fgfbp3 |
T |
A |
19: 36,896,324 (GRCm39) |
Y98F |
possibly damaging |
Het |
Frem3 |
T |
C |
8: 81,338,712 (GRCm39) |
V335A |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,263,433 (GRCm39) |
D951E |
probably benign |
Het |
Gpatch1 |
T |
C |
7: 35,007,625 (GRCm39) |
D145G |
probably benign |
Het |
H60c |
G |
T |
10: 3,209,746 (GRCm39) |
C180* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,498,718 (GRCm39) |
T4054A |
probably benign |
Het |
Hrg |
A |
G |
16: 22,780,048 (GRCm39) |
Y442C |
unknown |
Het |
Hspg2 |
C |
T |
4: 137,269,931 (GRCm39) |
R2327C |
possibly damaging |
Het |
Klhl31 |
G |
T |
9: 77,558,429 (GRCm39) |
A382S |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,901,179 (GRCm39) |
V960A |
probably damaging |
Het |
Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
Me3 |
G |
T |
7: 89,497,183 (GRCm39) |
E395* |
probably null |
Het |
Morc2b |
G |
A |
17: 33,356,435 (GRCm39) |
H446Y |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,548,316 (GRCm39) |
M1054K |
probably benign |
Het |
Ms4a6b |
T |
C |
19: 11,506,907 (GRCm39) |
V232A |
probably benign |
Het |
Nmt2 |
C |
A |
2: 3,313,767 (GRCm39) |
D224E |
probably damaging |
Het |
Nox4 |
C |
A |
7: 86,970,905 (GRCm39) |
R261S |
probably benign |
Het |
Obscn |
T |
A |
11: 59,015,416 (GRCm39) |
K1019* |
probably null |
Het |
Or4a15 |
T |
A |
2: 89,193,719 (GRCm39) |
N18I |
probably benign |
Het |
Or4g7 |
T |
A |
2: 111,309,282 (GRCm39) |
V51D |
probably benign |
Het |
Or5p67 |
G |
A |
7: 107,922,223 (GRCm39) |
S220F |
probably damaging |
Het |
Or8k24 |
C |
T |
2: 86,216,328 (GRCm39) |
V145I |
probably benign |
Het |
Pcdha11 |
A |
T |
18: 37,144,671 (GRCm39) |
N254I |
probably damaging |
Het |
Pck2 |
T |
A |
14: 55,779,913 (GRCm39) |
I54N |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,361,861 (GRCm39) |
W978R |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,214,703 (GRCm39) |
T593A |
probably benign |
Het |
Podn |
G |
A |
4: 107,879,321 (GRCm39) |
R266W |
probably damaging |
Het |
Ptpn22 |
A |
G |
3: 103,792,854 (GRCm39) |
D335G |
probably benign |
Het |
Pxn |
A |
G |
5: 115,644,922 (GRCm39) |
D3G |
unknown |
Het |
Rapgefl1 |
T |
G |
11: 98,736,960 (GRCm39) |
V320G |
probably benign |
Het |
Rel |
A |
G |
11: 23,692,785 (GRCm39) |
I416T |
probably benign |
Het |
Sema5b |
A |
G |
16: 35,471,540 (GRCm39) |
N378D |
probably benign |
Het |
Sh3bp4 |
C |
A |
1: 89,073,368 (GRCm39) |
L739M |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,168 (GRCm39) |
D191V |
probably damaging |
Het |
Slc3a1 |
T |
C |
17: 85,371,190 (GRCm39) |
Y581H |
probably damaging |
Het |
Smcr8 |
G |
T |
11: 60,670,814 (GRCm39) |
C654F |
probably benign |
Het |
Spta1 |
A |
C |
1: 174,025,349 (GRCm39) |
Q738P |
probably damaging |
Het |
Sptlc3 |
C |
A |
2: 139,431,438 (GRCm39) |
A320D |
probably benign |
Het |
Thnsl2 |
T |
A |
6: 71,108,990 (GRCm39) |
K274* |
probably null |
Het |
Tmed2 |
T |
A |
5: 124,685,055 (GRCm39) |
I68K |
possibly damaging |
Het |
Tmtc4 |
G |
A |
14: 123,180,735 (GRCm39) |
A326V |
possibly damaging |
Het |
Tnks2 |
T |
A |
19: 36,849,064 (GRCm39) |
S179T |
possibly damaging |
Het |
Trim34b |
G |
T |
7: 103,978,918 (GRCm39) |
C55F |
probably damaging |
Het |
Trpm4 |
T |
A |
7: 44,954,444 (GRCm39) |
E1129V |
probably damaging |
Het |
Tvp23b |
T |
C |
11: 62,782,867 (GRCm39) |
S188P |
possibly damaging |
Het |
Usp1 |
A |
G |
4: 98,822,356 (GRCm39) |
T557A |
probably damaging |
Het |
Vmn2r66 |
C |
T |
7: 84,661,176 (GRCm39) |
C18Y |
possibly damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,254,852 (GRCm39) |
T611S |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,862,289 (GRCm39) |
S2969P |
possibly damaging |
Het |
Wdr74 |
T |
A |
19: 8,713,554 (GRCm39) |
C62* |
probably null |
Het |
Wfikkn1 |
A |
T |
17: 26,097,020 (GRCm39) |
C435S |
probably damaging |
Het |
Zbtb45 |
A |
T |
7: 12,740,269 (GRCm39) |
F449I |
probably 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 |
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 |
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'- GCAAAGTGACCCCTTCTCTG -3'
(R):5'- CTCTAACACTGTGGAACCATGAAC -3'
Sequencing Primer
(F):5'- TTCACGGTGGTGCACGAGAC -3'
(R):5'- ATTCTGTATTTCATAAGCAGCCTTC -3'
|
Posted On |
2019-10-17 |