Incidental Mutation 'IGL01154:Arap3'
| ID |
53213 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arap3
|
| Ensembl Gene |
ENSMUSG00000024451 |
| Gene Name |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 |
| Synonyms |
Centd3, E030006K04Rik, DRAG1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
IGL01154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38129787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 125
(S125T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042944
AA Change: S125T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: S125T
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
68 |
1.5e-7 |
SMART |
|
low complexity region
|
81 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
142 |
N/A |
INTRINSIC |
|
PH
|
283 |
376 |
3.4e-16 |
SMART |
|
PH
|
390 |
480 |
1.61e-8 |
SMART |
|
ArfGap
|
484 |
606 |
1.44e-25 |
SMART |
|
low complexity region
|
642 |
661 |
N/A |
INTRINSIC |
|
PH
|
671 |
785 |
2.86e1 |
SMART |
|
PH
|
795 |
901 |
6.87e-3 |
SMART |
|
RhoGAP
|
913 |
1089 |
2.11e-47 |
SMART |
|
Pfam:RA
|
1113 |
1206 |
6.2e-16 |
PFAM |
|
PH
|
1220 |
1323 |
3.46e-8 |
SMART |
|
low complexity region
|
1388 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1469 |
N/A |
INTRINSIC |
|
low complexity region
|
1475 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1494 |
1529 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(5)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
| A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
| Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
| Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
| Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
| Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
| Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
| Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
| Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
| Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
| Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
| Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
| Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
| Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
| Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
| Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly damaging |
Het |
|
| Other mutations in Arap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Arap3
|
APN |
18 |
38,108,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01145:Arap3
|
APN |
18 |
38,122,232 (GRCm39) |
missense |
probably benign |
|
|
IGL01305:Arap3
|
APN |
18 |
38,124,380 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01542:Arap3
|
APN |
18 |
38,123,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01543:Arap3
|
APN |
18 |
38,123,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01544:Arap3
|
APN |
18 |
38,123,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01545:Arap3
|
APN |
18 |
38,123,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01677:Arap3
|
APN |
18 |
38,129,700 (GRCm39) |
missense |
probably benign |
|
|
IGL01925:Arap3
|
APN |
18 |
38,117,299 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01933:Arap3
|
APN |
18 |
38,111,506 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02048:Arap3
|
APN |
18 |
38,130,032 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02064:Arap3
|
APN |
18 |
38,124,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Arap3
|
APN |
18 |
38,120,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02376:Arap3
|
APN |
18 |
38,111,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02531:Arap3
|
APN |
18 |
38,122,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02568:Arap3
|
APN |
18 |
38,129,711 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02640:Arap3
|
APN |
18 |
38,120,855 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02658:Arap3
|
APN |
18 |
38,124,047 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03090:Arap3
|
APN |
18 |
38,122,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03352:Arap3
|
APN |
18 |
38,114,355 (GRCm39) |
splice site |
probably benign |
|
|
ANU22:Arap3
|
UTSW |
18 |
38,124,380 (GRCm39) |
critical splice donor site |
probably null |
|
|
P0016:Arap3
|
UTSW |
18 |
38,117,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4260001:Arap3
|
UTSW |
18 |
38,129,948 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0066:Arap3
|
UTSW |
18 |
38,129,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0324:Arap3
|
UTSW |
18 |
38,106,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0562:Arap3
|
UTSW |
18 |
38,108,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1289:Arap3
|
UTSW |
18 |
38,115,026 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1346:Arap3
|
UTSW |
18 |
38,108,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1419:Arap3
|
UTSW |
18 |
38,111,485 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1470:Arap3
|
UTSW |
18 |
38,122,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1470:Arap3
|
UTSW |
18 |
38,122,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1537:Arap3
|
UTSW |
18 |
38,122,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1644:Arap3
|
UTSW |
18 |
38,117,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Arap3
|
UTSW |
18 |
38,122,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1758:Arap3
|
UTSW |
18 |
38,122,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1843:Arap3
|
UTSW |
18 |
38,108,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Arap3
|
UTSW |
18 |
38,129,724 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1954:Arap3
|
UTSW |
18 |
38,115,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Arap3
|
UTSW |
18 |
38,106,403 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2135:Arap3
|
UTSW |
18 |
38,107,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Arap3
|
UTSW |
18 |
38,123,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Arap3
|
UTSW |
18 |
38,122,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Arap3
|
UTSW |
18 |
38,122,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Arap3
|
UTSW |
18 |
38,123,580 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4425:Arap3
|
UTSW |
18 |
38,111,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Arap3
|
UTSW |
18 |
38,129,307 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4734:Arap3
|
UTSW |
18 |
38,129,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4815:Arap3
|
UTSW |
18 |
38,106,296 (GRCm39) |
missense |
probably benign |
|
|
R5328:Arap3
|
UTSW |
18 |
38,124,740 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5350:Arap3
|
UTSW |
18 |
38,115,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Arap3
|
UTSW |
18 |
38,129,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5482:Arap3
|
UTSW |
18 |
38,107,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5572:Arap3
|
UTSW |
18 |
38,124,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Arap3
|
UTSW |
18 |
38,117,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Arap3
|
UTSW |
18 |
38,123,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6144:Arap3
|
UTSW |
18 |
38,118,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6166:Arap3
|
UTSW |
18 |
38,107,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Arap3
|
UTSW |
18 |
38,124,407 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6266:Arap3
|
UTSW |
18 |
38,123,844 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6385:Arap3
|
UTSW |
18 |
38,130,084 (GRCm39) |
nonsense |
probably null |
|
|
R6694:Arap3
|
UTSW |
18 |
38,124,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6856:Arap3
|
UTSW |
18 |
38,112,916 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7073:Arap3
|
UTSW |
18 |
38,107,495 (GRCm39) |
nonsense |
probably null |
|
|
R7297:Arap3
|
UTSW |
18 |
38,106,616 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7352:Arap3
|
UTSW |
18 |
38,106,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7652:Arap3
|
UTSW |
18 |
38,111,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7726:Arap3
|
UTSW |
18 |
38,122,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7747:Arap3
|
UTSW |
18 |
38,121,941 (GRCm39) |
splice site |
probably null |
|
|
R7944:Arap3
|
UTSW |
18 |
38,122,232 (GRCm39) |
missense |
probably benign |
|
|
R8152:Arap3
|
UTSW |
18 |
38,124,410 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8338:Arap3
|
UTSW |
18 |
38,106,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8549:Arap3
|
UTSW |
18 |
38,106,365 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8793:Arap3
|
UTSW |
18 |
38,107,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8876:Arap3
|
UTSW |
18 |
38,130,077 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9142:Arap3
|
UTSW |
18 |
38,112,934 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9237:Arap3
|
UTSW |
18 |
38,112,934 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9583:Arap3
|
UTSW |
18 |
38,109,096 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9696:Arap3
|
UTSW |
18 |
38,112,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Arap3
|
UTSW |
18 |
38,107,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0026:Arap3
|
UTSW |
18 |
38,118,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0027:Arap3
|
UTSW |
18 |
38,106,538 (GRCm39) |
splice site |
probably null |
|
|
X0066:Arap3
|
UTSW |
18 |
38,124,699 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation