Incidental Mutation 'R9791:Arap1'
ID |
734609 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9791 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101037376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 468
(Q468K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000107010]
[ENSMUST00000127873]
[ENSMUST00000130016]
[ENSMUST00000134143]
[ENSMUST00000141083]
[ENSMUST00000148902]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084895
AA Change: Q220K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: Q220K
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: Q468K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: Q468K
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: ENSMUST00000107010
AA Change: Q468K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: Q468K
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: 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 |
probably benign
Transcript: ENSMUST00000148902
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
C |
5: 8,748,604 (GRCm39) |
Y312H |
probably damaging |
Het |
Abcc10 |
A |
T |
17: 46,633,185 (GRCm39) |
I549N |
probably damaging |
Het |
Agpat2 |
A |
G |
2: 26,486,395 (GRCm39) |
Y134H |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,596,425 (GRCm39) |
D417G |
probably benign |
Het |
Apol11b |
T |
A |
15: 77,519,475 (GRCm39) |
I202F |
probably benign |
Het |
Arhgef4 |
T |
C |
1: 34,832,445 (GRCm39) |
|
probably null |
Het |
Asap3 |
A |
T |
4: 135,961,914 (GRCm39) |
N285I |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,408,375 (GRCm39) |
I2421F |
probably damaging |
Het |
Banp |
C |
A |
8: 122,701,285 (GRCm39) |
D17E |
probably benign |
Het |
Bsx |
T |
G |
9: 40,788,905 (GRCm39) |
V154G |
probably damaging |
Het |
Cacnb1 |
T |
C |
11: 97,900,186 (GRCm39) |
D324G |
probably damaging |
Het |
Ccdc170 |
A |
T |
10: 4,483,957 (GRCm39) |
|
probably null |
Het |
Ccdc187 |
T |
C |
2: 26,171,227 (GRCm39) |
H417R |
probably benign |
Het |
Cct4 |
T |
A |
11: 22,949,070 (GRCm39) |
M272K |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,760,417 (GRCm39) |
E2054G |
possibly damaging |
Het |
Ctnnal1 |
A |
T |
4: 56,844,584 (GRCm39) |
S127T |
possibly damaging |
Het |
Cttnbp2 |
T |
A |
6: 18,376,027 (GRCm39) |
H1504L |
probably benign |
Het |
Cyp4a29 |
T |
A |
4: 115,108,380 (GRCm39) |
M368K |
probably damaging |
Het |
Dhx32 |
A |
G |
7: 133,326,267 (GRCm39) |
F527L |
probably benign |
Het |
Foxk1 |
T |
C |
5: 142,387,739 (GRCm39) |
V154A |
probably damaging |
Het |
Frem3 |
G |
A |
8: 81,339,890 (GRCm39) |
E728K |
probably benign |
Het |
Gemin5 |
G |
A |
11: 58,020,846 (GRCm39) |
Q1114* |
probably null |
Het |
Gm11567 |
C |
T |
11: 99,770,274 (GRCm39) |
R71C |
unknown |
Het |
Gm13272 |
T |
C |
4: 88,698,442 (GRCm39) |
V119A |
probably benign |
Het |
Gpc6 |
T |
A |
14: 117,163,435 (GRCm39) |
C30S |
probably damaging |
Het |
Gprc6a |
A |
C |
10: 51,491,395 (GRCm39) |
F785V |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,494,693 (GRCm39) |
V368A |
probably benign |
Het |
Hsd17b4 |
G |
A |
18: 50,324,907 (GRCm39) |
|
probably null |
Het |
Il17ra |
C |
T |
6: 120,459,240 (GRCm39) |
S797F |
probably damaging |
Het |
Jmjd6 |
A |
G |
11: 116,733,438 (GRCm39) |
S80P |
probably benign |
Het |
Klhdc2 |
T |
A |
12: 69,346,995 (GRCm39) |
N53K |
probably benign |
Het |
Klhl30 |
C |
T |
1: 91,282,089 (GRCm39) |
P230L |
probably benign |
Het |
Marchf1 |
C |
A |
8: 66,729,339 (GRCm39) |
A46E |
probably benign |
Het |
Mast4 |
T |
C |
13: 102,890,705 (GRCm39) |
T1050A |
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,355,049 (GRCm39) |
N459S |
probably benign |
Het |
Mtfr1l |
A |
G |
4: 134,258,063 (GRCm39) |
V53A |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,025,992 (GRCm39) |
E1326V |
|
Het |
Myh3 |
A |
G |
11: 66,992,005 (GRCm39) |
E1850G |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,619,925 (GRCm39) |
D1492G |
unknown |
Het |
Myo3b |
C |
A |
2: 70,180,287 (GRCm39) |
H1219Q |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,646,605 (GRCm39) |
Q1379L |
probably null |
Het |
Or8g30 |
C |
T |
9: 39,230,815 (GRCm39) |
V32I |
probably benign |
Het |
Or9q1 |
A |
G |
19: 13,804,914 (GRCm39) |
I282T |
probably benign |
Het |
Osbpl6 |
T |
G |
2: 76,385,361 (GRCm39) |
L265R |
probably damaging |
Het |
Pld4 |
A |
G |
12: 112,734,862 (GRCm39) |
T440A |
probably damaging |
Het |
Prr14 |
T |
C |
7: 127,071,128 (GRCm39) |
M1T |
probably null |
Het |
Ptger4 |
A |
T |
15: 5,273,178 (GRCm39) |
M1K |
probably null |
Het |
Ptpn22 |
A |
T |
3: 103,795,842 (GRCm39) |
T608S |
possibly damaging |
Het |
S1pr2 |
A |
G |
9: 20,879,319 (GRCm39) |
W170R |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,066,603 (GRCm39) |
I17M |
probably benign |
Het |
Spmap1 |
T |
A |
11: 97,666,594 (GRCm39) |
I31F |
probably benign |
Het |
Sptbn4 |
C |
G |
7: 27,071,662 (GRCm39) |
G1601R |
probably damaging |
Het |
Sqor |
C |
T |
2: 122,626,912 (GRCm39) |
P11L |
probably benign |
Het |
Stac2 |
T |
C |
11: 97,934,449 (GRCm39) |
D85G |
probably benign |
Het |
Svs5 |
G |
A |
2: 164,078,918 (GRCm39) |
Q330* |
probably null |
Het |
Taar7e |
A |
G |
10: 23,913,554 (GRCm39) |
I15V |
probably benign |
Het |
Tcf4 |
A |
T |
18: 69,770,007 (GRCm39) |
Y275F |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,538,046 (GRCm39) |
N1873S |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,648 (GRCm39) |
V133D |
probably benign |
Het |
Tfap2a |
T |
A |
13: 40,870,658 (GRCm39) |
N410I |
probably damaging |
Het |
Tjp3 |
A |
T |
10: 81,109,694 (GRCm39) |
D836E |
probably benign |
Het |
Tox3 |
A |
T |
8: 90,975,206 (GRCm39) |
M475K |
unknown |
Het |
Traf4 |
A |
T |
11: 78,050,979 (GRCm39) |
D392E |
probably damaging |
Het |
Vav2 |
A |
G |
2: 27,181,825 (GRCm39) |
L338P |
probably damaging |
Het |
Vmn1r81 |
T |
C |
7: 11,994,113 (GRCm39) |
N165S |
probably benign |
Het |
Vmn2r9 |
A |
T |
5: 108,995,409 (GRCm39) |
V413E |
probably damaging |
Het |
Wdr7 |
A |
T |
18: 63,911,059 (GRCm39) |
D817V |
probably damaging |
Het |
Zbtb38 |
G |
A |
9: 96,570,700 (GRCm39) |
S128L |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,464,922 (GRCm39) |
H1718Q |
probably damaging |
Het |
Zfp945 |
G |
A |
17: 23,071,228 (GRCm39) |
H245Y |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTTGCAGTGGAGCGGAAC -3'
(R):5'- TGCTGTTCAGGGACAGGATG -3'
Sequencing Primer
(F):5'- AACGAGTGGATGCAGGCCC -3'
(R):5'- AGAGGGGAGATGCTGTCC -3'
|
Posted On |
2022-11-14 |