Incidental Mutation 'R0233:Arap1'
ID |
65943 |
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 |
038474-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0233 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101049448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 970
(S970L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000155754]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084895
AA Change: S722L
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: S722L
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: S970L
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: S970L
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: S256L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095844 Gene: ENSMUSG00000032812 AA Change: S256L
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: S970L
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: S970L
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 |
probably benign
Transcript: ENSMUST00000155754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156017
|
Meta Mutation Damage Score |
0.1047 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 81.7%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,385,330 (GRCm39) |
S212P |
probably benign |
Het |
A730018C14Rik |
A |
C |
12: 112,381,864 (GRCm39) |
|
noncoding transcript |
Het |
Acsf3 |
A |
G |
8: 123,507,031 (GRCm39) |
Y108C |
probably damaging |
Het |
Adad1 |
T |
A |
3: 37,139,097 (GRCm39) |
I389N |
possibly damaging |
Het |
Ankrd27 |
T |
C |
7: 35,300,985 (GRCm39) |
L95P |
probably damaging |
Het |
Ano5 |
T |
C |
7: 51,185,218 (GRCm39) |
F46S |
possibly damaging |
Het |
Ap2a1 |
T |
C |
7: 44,565,397 (GRCm39) |
N114S |
probably damaging |
Het |
Atad3a |
A |
T |
4: 155,830,524 (GRCm39) |
S525T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,002,712 (GRCm39) |
C1552* |
probably null |
Het |
Cacna2d2 |
A |
T |
9: 107,391,869 (GRCm39) |
I463F |
probably damaging |
Het |
Casp6 |
T |
A |
3: 129,699,624 (GRCm39) |
N34K |
probably damaging |
Het |
Ccdc175 |
A |
T |
12: 72,152,650 (GRCm39) |
F752I |
probably benign |
Het |
Cdhr4 |
A |
G |
9: 107,874,133 (GRCm39) |
I76V |
probably benign |
Het |
Cox11 |
C |
T |
11: 90,535,326 (GRCm39) |
T259I |
probably damaging |
Het |
Cuzd1 |
C |
A |
7: 130,913,545 (GRCm39) |
K357N |
possibly damaging |
Het |
Dnase2b |
T |
A |
3: 146,288,305 (GRCm39) |
K263N |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,607,414 (GRCm39) |
D2668E |
probably benign |
Het |
Fam124b |
T |
C |
1: 80,190,703 (GRCm39) |
S227G |
probably damaging |
Het |
Fgf21 |
T |
A |
7: 45,264,721 (GRCm39) |
M4L |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,109,104 (GRCm39) |
C377* |
probably null |
Het |
Gli2 |
A |
T |
1: 118,763,655 (GRCm39) |
S1499T |
probably damaging |
Het |
Gm43638 |
T |
C |
5: 87,622,860 (GRCm39) |
N36S |
probably damaging |
Het |
Gpx5 |
T |
A |
13: 21,471,573 (GRCm39) |
D210V |
probably damaging |
Het |
H2-T5 |
A |
G |
17: 36,478,361 (GRCm39) |
Y224H |
probably benign |
Het |
Hoxb5 |
T |
A |
11: 96,195,853 (GRCm39) |
S234T |
probably benign |
Het |
Irf9 |
C |
A |
14: 55,843,551 (GRCm39) |
N140K |
probably benign |
Het |
Isg20 |
C |
A |
7: 78,566,334 (GRCm39) |
D94E |
probably damaging |
Het |
Isg20 |
C |
T |
7: 78,564,243 (GRCm39) |
T50M |
probably damaging |
Het |
Izumo1 |
T |
C |
7: 45,273,592 (GRCm39) |
L115P |
probably damaging |
Het |
Krt73 |
A |
T |
15: 101,710,451 (GRCm39) |
N94K |
probably benign |
Het |
Lgmn |
G |
T |
12: 102,366,248 (GRCm39) |
D247E |
probably damaging |
Het |
Lilra6 |
C |
T |
7: 3,917,935 (GRCm39) |
V70I |
possibly damaging |
Het |
Lrig3 |
G |
A |
10: 125,849,395 (GRCm39) |
|
probably null |
Het |
Lrrc4 |
T |
C |
6: 28,829,734 (GRCm39) |
H627R |
probably benign |
Het |
Nat9 |
C |
A |
11: 115,074,234 (GRCm39) |
|
probably null |
Het |
Nutm2 |
A |
G |
13: 50,621,441 (GRCm39) |
D2G |
probably benign |
Het |
Or10j3b |
A |
T |
1: 173,043,868 (GRCm39) |
I217F |
probably benign |
Het |
Or5h23 |
A |
T |
16: 58,906,038 (GRCm39) |
D269E |
probably benign |
Het |
Or5w8 |
A |
G |
2: 87,688,096 (GRCm39) |
I192M |
probably benign |
Het |
Pdzd8 |
A |
T |
19: 59,288,811 (GRCm39) |
M863K |
probably damaging |
Het |
Phlda3 |
T |
C |
1: 135,694,559 (GRCm39) |
S125P |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,377,412 (GRCm39) |
R217* |
probably null |
Het |
Plekhg5 |
T |
C |
4: 152,196,676 (GRCm39) |
C695R |
probably damaging |
Het |
Pramel24 |
A |
T |
4: 143,452,633 (GRCm39) |
E21D |
possibly damaging |
Het |
Pyroxd1 |
A |
G |
6: 142,300,356 (GRCm39) |
E162G |
possibly damaging |
Het |
R3hcc1l |
G |
A |
19: 42,571,360 (GRCm39) |
|
probably null |
Het |
Rgs12 |
T |
A |
5: 35,187,842 (GRCm39) |
S500T |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,834,518 (GRCm39) |
D299G |
probably damaging |
Het |
Robo4 |
T |
C |
9: 37,313,977 (GRCm39) |
L76P |
probably damaging |
Het |
Sbno1 |
T |
C |
5: 124,514,289 (GRCm39) |
Y1302C |
probably damaging |
Het |
Sec63 |
A |
G |
10: 42,699,904 (GRCm39) |
I655V |
possibly damaging |
Het |
Serpina11 |
T |
A |
12: 103,946,729 (GRCm39) |
M389L |
probably benign |
Het |
Sfswap |
C |
A |
5: 129,631,607 (GRCm39) |
P745Q |
possibly damaging |
Het |
Slitrk3 |
C |
T |
3: 72,955,910 (GRCm39) |
S954N |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,222,866 (GRCm39) |
T190A |
probably damaging |
Het |
Sos2 |
A |
T |
12: 69,664,104 (GRCm39) |
I460N |
probably benign |
Het |
Spink7 |
T |
A |
18: 62,727,423 (GRCm39) |
I34L |
probably benign |
Het |
Srbd1 |
A |
G |
17: 86,365,173 (GRCm39) |
S628P |
probably damaging |
Het |
Srm |
G |
A |
4: 148,677,829 (GRCm39) |
G156S |
probably damaging |
Het |
Tmc4 |
T |
A |
7: 3,669,866 (GRCm39) |
Y6F |
probably benign |
Het |
Tmcc2 |
A |
G |
1: 132,288,389 (GRCm39) |
F433L |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,918,007 (GRCm39) |
F2307L |
probably benign |
Het |
Tsr3 |
A |
G |
17: 25,461,484 (GRCm39) |
E274G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,725,488 (GRCm39) |
|
probably benign |
Het |
Tub |
T |
C |
7: 108,628,548 (GRCm39) |
V352A |
possibly damaging |
Het |
Tubb2a |
A |
G |
13: 34,259,325 (GRCm39) |
I155T |
possibly damaging |
Het |
Usp13 |
T |
A |
3: 32,969,813 (GRCm39) |
|
probably null |
Het |
Vmn1r52 |
T |
G |
6: 90,156,593 (GRCm39) |
L120R |
possibly damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,201,968 (GRCm39) |
S179T |
probably benign |
Het |
Vwf |
A |
T |
6: 125,663,473 (GRCm39) |
R2805W |
possibly damaging |
Het |
Zfp286 |
T |
C |
11: 62,671,219 (GRCm39) |
T285A |
possibly 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 |
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 |
R9791:Arap1
|
UTSW |
7 |
101,037,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
|
Posted On |
2013-08-19 |