Incidental Mutation 'R4942:Arap1'
| ID |
383195 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4942 (G1)
|
| Quality Score |
124 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101051009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 542
(D542G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
|
| AlphaFold |
Q4LDD4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084895
AA Change: D927G
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: D927G
| 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 |
possibly damaging
Transcript: ENSMUST00000084896
AA Change: D1175G
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: D1175G
| 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 |
possibly damaging
Transcript: ENSMUST00000098243
AA Change: D461G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
AA Change: D461G
| 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 |
possibly damaging
Transcript: ENSMUST00000107010
AA Change: D1175G
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: D1175G
| 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 |
possibly damaging
Transcript: ENSMUST00000154239
AA Change: D542G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210162
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| Adamts7 |
T |
C |
9: 90,045,364 (GRCm39) |
S23P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,259,451 (GRCm39) |
C824* |
probably null |
Het |
| Adgre1 |
A |
G |
17: 57,713,903 (GRCm39) |
Y196C |
probably damaging |
Het |
| B3gat1 |
A |
G |
9: 26,666,894 (GRCm39) |
D42G |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,930,045 (GRCm39) |
A2412T |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 29,122,232 (GRCm39) |
R420G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,983,678 (GRCm39) |
Y3459H |
unknown |
Het |
| Cacnb1 |
T |
C |
11: 97,893,809 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cdk2ap2 |
G |
A |
19: 4,147,508 (GRCm39) |
|
probably null |
Het |
| Cep57 |
A |
G |
9: 13,724,723 (GRCm39) |
S265P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,710,524 (GRCm39) |
I893T |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,263 (GRCm39) |
E491V |
probably damaging |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cobl |
A |
T |
11: 12,204,185 (GRCm39) |
I832N |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,910,316 (GRCm39) |
V487A |
possibly damaging |
Het |
| Cse1l |
C |
T |
2: 166,771,714 (GRCm39) |
T325I |
probably damaging |
Het |
| Dlx6 |
A |
G |
6: 6,863,468 (GRCm39) |
Q30R |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,948,116 (GRCm39) |
V1902A |
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,635,965 (GRCm39) |
F542L |
possibly damaging |
Het |
| Emid1 |
T |
G |
11: 5,079,430 (GRCm39) |
M323L |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,215,125 (GRCm39) |
D886G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,730,649 (GRCm39) |
E461G |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,225,536 (GRCm39) |
C572F |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,811,556 (GRCm39) |
H714R |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,428,391 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lypd6b |
C |
A |
2: 49,836,132 (GRCm39) |
H104Q |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,586 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
T |
4: 154,338,277 (GRCm39) |
D449V |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,556,599 (GRCm39) |
V1003A |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,552,944 (GRCm39) |
W1096L |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,133 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,547 (GRCm39) |
E171G |
possibly damaging |
Het |
| Nell1 |
T |
C |
7: 49,770,397 (GRCm39) |
V152A |
possibly damaging |
Het |
| Nherf4 |
C |
A |
9: 44,159,915 (GRCm39) |
G402* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,198,673 (GRCm39) |
V255E |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,928 (GRCm39) |
F27Y |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,375 (GRCm39) |
M1L |
probably null |
Het |
| Or52h7 |
A |
G |
7: 104,214,212 (GRCm39) |
I261M |
probably benign |
Het |
| Or52z14 |
G |
A |
7: 103,253,401 (GRCm39) |
R180H |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,407,171 (GRCm39) |
I50T |
probably damaging |
Het |
| P2ry13 |
G |
A |
3: 59,116,983 (GRCm39) |
T265I |
probably benign |
Het |
| Pde4d |
A |
G |
13: 108,996,733 (GRCm39) |
S12G |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,154 (GRCm39) |
N219K |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,509 (GRCm39) |
|
probably null |
Het |
| Psd2 |
A |
T |
18: 36,111,717 (GRCm39) |
D114V |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,672,884 (GRCm39) |
I770N |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,524,290 (GRCm39) |
M481K |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,078,814 (GRCm39) |
M45R |
probably damaging |
Het |
| Rpsa |
T |
A |
9: 119,960,129 (GRCm39) |
W231R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,768,998 (GRCm39) |
T2797N |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,666,602 (GRCm39) |
M1468K |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,137,589 (GRCm39) |
Y244H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,009,049 (GRCm39) |
D462V |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,864,917 (GRCm39) |
E688D |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,773,737 (GRCm39) |
I181N |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,791,836 (GRCm39) |
F1785L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,752,811 (GRCm39) |
D2174E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,623,600 (GRCm39) |
V15326I |
probably damaging |
Het |
| Ubap2 |
T |
A |
4: 41,245,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
C |
T |
17: 23,177,321 (GRCm39) |
P702S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,980 (GRCm39) |
W142R |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,582 (GRCm39) |
Y459H |
probably damaging |
Het |
| Wsb2 |
C |
T |
5: 117,515,550 (GRCm39) |
T385M |
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 |
|
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'- AGATGGCAGTGACAGCTGAC -3'
(R):5'- GGCCACAATCTCCTGTAATTTG -3'
Sequencing Primer
(F):5'- AGTGACAGCTGACCCTCC -3'
(R):5'- ACAATCTCCTGTAATTTGGCCCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation