Incidental Mutation 'R7323:Arap1'
ID |
568284 |
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 # |
R7323 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101049418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 960
(D960G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000155754]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084895
AA Change: D712G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: D712G
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: D960G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: D960G
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: D246G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095844 Gene: ENSMUSG00000032812 AA Change: D246G
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: D960G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: D960G
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: ENSMUST00000155754
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (73/73) |
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 |
4930524J08Rik |
C |
A |
5: 100,126,945 (GRCm39) |
A9E |
unknown |
Het |
6030452D12Rik |
A |
T |
8: 107,227,411 (GRCm39) |
|
probably null |
Het |
Abcb11 |
C |
A |
2: 69,117,979 (GRCm39) |
Q466H |
probably damaging |
Het |
Adam20 |
A |
G |
8: 41,248,421 (GRCm39) |
D177G |
probably benign |
Het |
Ampd1 |
A |
T |
3: 102,992,696 (GRCm39) |
Q150L |
probably benign |
Het |
Angpt2 |
A |
C |
8: 18,755,840 (GRCm39) |
M209R |
probably benign |
Het |
Aoc2 |
G |
A |
11: 101,219,371 (GRCm39) |
R598Q |
probably damaging |
Het |
Bhlhe40 |
G |
C |
6: 108,642,242 (GRCm39) |
L395F |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,275,854 (GRCm39) |
C1882R |
possibly damaging |
Het |
Ccr6 |
A |
G |
17: 8,475,611 (GRCm39) |
N272S |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,998,472 (GRCm39) |
W175R |
probably damaging |
Het |
Ces3a |
A |
C |
8: 105,782,239 (GRCm39) |
H364P |
possibly damaging |
Het |
Cfap54 |
T |
C |
10: 92,637,000 (GRCm39) |
M3130V |
probably benign |
Het |
Clca3b |
G |
A |
3: 144,531,681 (GRCm39) |
P708S |
possibly damaging |
Het |
Cps1 |
A |
T |
1: 67,197,028 (GRCm39) |
T360S |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,201,379 (GRCm39) |
M701K |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 31,020,664 (GRCm39) |
I1235T |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,920,837 (GRCm39) |
L4676P |
probably benign |
Het |
Ergic1 |
A |
G |
17: 26,860,644 (GRCm39) |
E244G |
probably damaging |
Het |
Fignl2 |
C |
A |
15: 100,951,382 (GRCm39) |
R300L |
unknown |
Het |
Fry |
T |
C |
5: 150,419,814 (GRCm39) |
M628T |
|
Het |
Fscn3 |
A |
G |
6: 28,431,544 (GRCm39) |
T292A |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,819,860 (GRCm39) |
I5198L |
probably benign |
Het |
Gm4181 |
T |
A |
14: 51,869,990 (GRCm39) |
R104W |
probably damaging |
Het |
Gnl1 |
G |
A |
17: 36,294,305 (GRCm39) |
R308H |
probably benign |
Het |
Gtf2h4 |
G |
T |
17: 35,980,857 (GRCm39) |
L271I |
probably damaging |
Het |
Helq |
GTTT |
GTT |
5: 100,931,051 (GRCm39) |
|
probably null |
Het |
Hhatl |
A |
T |
9: 121,618,652 (GRCm39) |
W117R |
probably benign |
Het |
Hlx |
A |
G |
1: 184,462,993 (GRCm39) |
F220L |
probably benign |
Het |
Il31ra |
T |
C |
13: 112,688,497 (GRCm39) |
I27V |
probably damaging |
Het |
Itga8 |
T |
G |
2: 12,266,940 (GRCm39) |
D165A |
probably damaging |
Het |
Krt33a |
A |
C |
11: 99,902,801 (GRCm39) |
V341G |
probably benign |
Het |
Lrrc3c |
A |
G |
11: 98,490,266 (GRCm39) |
M208V |
possibly damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,135 (GRCm39) |
S947T |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,412,444 (GRCm39) |
I1797V |
unknown |
Het |
Myh2 |
A |
T |
11: 67,088,191 (GRCm39) |
T1936S |
probably benign |
Het |
Nr1h2 |
T |
C |
7: 44,199,746 (GRCm39) |
Y391C |
possibly damaging |
Het |
Or1l8 |
T |
A |
2: 36,817,986 (GRCm39) |
I47F |
probably damaging |
Het |
Or4c114 |
A |
T |
2: 88,904,811 (GRCm39) |
I208K |
probably damaging |
Het |
Or4e2 |
A |
G |
14: 52,688,670 (GRCm39) |
I267V |
probably benign |
Het |
Or5d40 |
A |
G |
2: 88,015,952 (GRCm39) |
T244A |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,852,211 (GRCm39) |
M1064T |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,794,025 (GRCm39) |
E1904G |
probably benign |
Het |
Polrmt |
A |
G |
10: 79,576,483 (GRCm39) |
V491A |
probably benign |
Het |
Ppm1j |
C |
A |
3: 104,691,429 (GRCm39) |
R306S |
probably damaging |
Het |
Prkd2 |
T |
C |
7: 16,581,547 (GRCm39) |
F134S |
probably benign |
Het |
Prpf8 |
C |
A |
11: 75,382,610 (GRCm39) |
Q439K |
probably benign |
Het |
Prss50 |
A |
T |
9: 110,692,800 (GRCm39) |
I307F |
possibly damaging |
Het |
Rgs20 |
A |
G |
1: 4,982,535 (GRCm39) |
|
probably null |
Het |
Rnf144b |
A |
G |
13: 47,393,258 (GRCm39) |
E199G |
probably damaging |
Het |
Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
Slc22a26 |
A |
T |
19: 7,768,259 (GRCm39) |
V233E |
probably damaging |
Het |
Slc27a2 |
T |
G |
2: 126,395,124 (GRCm39) |
L17R |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,398,794 (GRCm39) |
V269A |
probably benign |
Het |
Srp54c |
T |
C |
12: 55,304,237 (GRCm39) |
V395A |
probably benign |
Het |
Sspo |
A |
T |
6: 48,438,581 (GRCm39) |
S1550C |
possibly damaging |
Het |
Tet1 |
A |
G |
10: 62,715,818 (GRCm39) |
|
probably benign |
Het |
Themis |
A |
T |
10: 28,609,497 (GRCm39) |
H88L |
probably benign |
Het |
Tmem63b |
G |
A |
17: 45,971,773 (GRCm39) |
T814M |
possibly damaging |
Het |
Tnc |
G |
A |
4: 63,889,469 (GRCm39) |
T1679I |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,772,456 (GRCm39) |
D581G |
probably damaging |
Het |
Trim30d |
A |
C |
7: 104,132,555 (GRCm39) |
V244G |
probably benign |
Het |
Trpv1 |
T |
C |
11: 73,151,163 (GRCm39) |
S784P |
possibly damaging |
Het |
Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
Ubap2l |
A |
C |
3: 89,922,713 (GRCm39) |
V775G |
unknown |
Het |
Vmn2r69 |
A |
C |
7: 85,060,972 (GRCm39) |
I204R |
possibly damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,399,771 (GRCm39) |
D426V |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,533,497 (GRCm39) |
W467* |
probably null |
Het |
Wbp2nl |
T |
C |
15: 82,198,542 (GRCm39) |
*360Q |
probably null |
Het |
Xylt1 |
G |
A |
7: 117,191,274 (GRCm39) |
|
probably null |
Het |
Zc3h6 |
T |
G |
2: 128,835,331 (GRCm39) |
N123K |
unknown |
Het |
Zfp853 |
T |
C |
5: 143,275,110 (GRCm39) |
Q185R |
unknown |
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 |
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'- AGCTATCCAAGGAGACAGCG -3'
(R):5'- GGAGGGAGTTAAACCACTCTTTAG -3'
Sequencing Primer
(F):5'- CAGCGAGAACCAAGTGCTG -3'
(R):5'- CTCTTTAGAGGGATCCTGGGCAC -3'
|
Posted On |
2019-06-26 |