Incidental Mutation 'R7349:Arap1'
ID |
570419 |
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 |
045435-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7349 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101039435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 565
(I565T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000127873]
[ENSMUST00000130016]
[ENSMUST00000134143]
[ENSMUST00000141083]
[ENSMUST00000148902]
[ENSMUST00000155754]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084895
AA Change: I317T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: I317T
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: I565T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: I565T
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
|
SMART Domains |
Protein: ENSMUSP00000095844 Gene: ENSMUSG00000032812
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: I565T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: I565T
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155754
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (70/70) |
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 |
4930486L24Rik |
T |
A |
13: 60,990,717 (GRCm39) |
T326S |
possibly damaging |
Het |
Acly |
A |
T |
11: 100,412,817 (GRCm39) |
H91Q |
probably benign |
Het |
Acp3 |
T |
A |
9: 104,168,657 (GRCm39) |
I403F |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,742,090 (GRCm39) |
M489L |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,939,473 (GRCm39) |
D563G |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,789,392 (GRCm39) |
Y386* |
probably null |
Het |
Atp8b4 |
A |
G |
2: 126,167,265 (GRCm39) |
V1078A |
probably benign |
Het |
Bsn |
T |
C |
9: 107,987,982 (GRCm39) |
D2590G |
unknown |
Het |
Casp12 |
T |
C |
9: 5,345,527 (GRCm39) |
|
probably null |
Het |
Ccdc87 |
T |
C |
19: 4,891,868 (GRCm39) |
S787P |
probably damaging |
Het |
Cdh13 |
A |
G |
8: 119,969,097 (GRCm39) |
T485A |
probably damaging |
Het |
Cstdc5 |
A |
G |
16: 36,184,674 (GRCm39) |
V23A |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,121,426 (GRCm39) |
H810R |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,642,854 (GRCm39) |
Y120F |
unknown |
Het |
Dmgdh |
C |
T |
13: 93,888,741 (GRCm39) |
T793I |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
Eif4e1b |
T |
C |
13: 54,932,006 (GRCm39) |
V30A |
probably benign |
Het |
Ercc5 |
T |
G |
1: 44,220,068 (GRCm39) |
D1113E |
possibly damaging |
Het |
Fbn1 |
T |
C |
2: 125,157,321 (GRCm39) |
N2321D |
possibly damaging |
Het |
Fbrs |
T |
C |
7: 127,081,971 (GRCm39) |
L237P |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
Ftsj3 |
G |
A |
11: 106,140,572 (GRCm39) |
T761I |
probably damaging |
Het |
Gdi2 |
C |
A |
13: 3,606,395 (GRCm39) |
T157N |
probably benign |
Het |
Gm8122 |
C |
A |
14: 43,088,058 (GRCm39) |
|
probably null |
Het |
Gtpbp10 |
T |
C |
5: 5,605,379 (GRCm39) |
E108G |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,448,726 (GRCm39) |
L358P |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,835,971 (GRCm39) |
C271R |
probably benign |
Het |
Hspb1 |
C |
T |
5: 135,918,187 (GRCm39) |
T178M |
possibly damaging |
Het |
Htr3b |
C |
T |
9: 48,847,319 (GRCm39) |
V399M |
probably benign |
Het |
Hydin |
A |
G |
8: 111,124,803 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
A |
17: 27,326,786 (GRCm39) |
|
probably null |
Het |
Iyd |
G |
T |
10: 3,495,638 (GRCm39) |
V99F |
possibly damaging |
Het |
Lrrc36 |
G |
A |
8: 106,178,900 (GRCm39) |
G365D |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,570,148 (GRCm39) |
I858F |
unknown |
Het |
Med12l |
A |
T |
3: 59,165,746 (GRCm39) |
D1488V |
probably damaging |
Het |
Ms4a6c |
T |
A |
19: 11,455,555 (GRCm39) |
N121K |
probably damaging |
Het |
Nlrp1b |
T |
G |
11: 71,072,943 (GRCm39) |
Q300P |
probably benign |
Het |
Nlrp3 |
G |
A |
11: 59,438,912 (GRCm39) |
R163H |
probably damaging |
Het |
Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
Optc |
T |
G |
1: 133,825,617 (GRCm39) |
D356A |
probably damaging |
Het |
Or52h7 |
A |
G |
7: 104,213,857 (GRCm39) |
H143R |
probably benign |
Het |
Or9s15 |
T |
C |
1: 92,524,904 (GRCm39) |
V221A |
possibly damaging |
Het |
Pdzd2 |
C |
G |
15: 12,399,291 (GRCm39) |
V812L |
probably damaging |
Het |
Phlpp2 |
T |
C |
8: 110,655,278 (GRCm39) |
F691S |
probably damaging |
Het |
Pigk |
T |
C |
3: 152,453,238 (GRCm39) |
F319L |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,378,350 (GRCm39) |
T1035A |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,611,339 (GRCm39) |
T261A |
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,278,160 (GRCm39) |
F312S |
probably damaging |
Het |
Pms2 |
T |
A |
5: 143,862,654 (GRCm39) |
I587N |
probably benign |
Het |
Ppl |
T |
A |
16: 4,922,593 (GRCm39) |
H272L |
probably damaging |
Het |
Prkce |
G |
A |
17: 86,800,783 (GRCm39) |
A400T |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,951,660 (GRCm39) |
S324P |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,468,834 (GRCm39) |
N1432I |
possibly damaging |
Het |
R3hdm2 |
T |
C |
10: 127,328,515 (GRCm39) |
S746P |
probably benign |
Het |
Rnf220 |
G |
A |
4: 117,135,015 (GRCm39) |
A412V |
probably damaging |
Het |
Scel |
G |
A |
14: 103,781,315 (GRCm39) |
A154T |
probably benign |
Het |
Sirpb1a |
A |
T |
3: 15,475,664 (GRCm39) |
N290K |
probably damaging |
Het |
Sirpb1c |
A |
T |
3: 15,886,310 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
A |
T |
8: 46,248,860 (GRCm39) |
R704* |
probably null |
Het |
Spast |
T |
C |
17: 74,680,319 (GRCm39) |
V427A |
probably damaging |
Het |
Stxbp4 |
A |
T |
11: 90,482,937 (GRCm39) |
|
probably null |
Het |
Thsd7a |
C |
A |
6: 12,352,067 (GRCm39) |
G1043C |
|
Het |
Tmem205 |
C |
T |
9: 21,832,410 (GRCm39) |
C167Y |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,608,718 (GRCm39) |
L897* |
probably null |
Het |
Trim36 |
A |
G |
18: 46,302,495 (GRCm39) |
F518L |
probably benign |
Het |
Ttc12 |
T |
G |
9: 49,359,267 (GRCm39) |
T402P |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,998,600 (GRCm39) |
V506A |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,485,682 (GRCm39) |
L604* |
probably null |
Het |
Wdr83 |
T |
C |
8: 85,806,460 (GRCm39) |
N113D |
possibly damaging |
Het |
Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
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 |
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'- CTAGCTTCTCGGCTGATTCAG -3'
(R):5'- CTTACTTGCCAGATAGCCCTG -3'
Sequencing Primer
(F):5'- TCTCGGCTGATTCAGAGTTAGAGAAG -3'
(R):5'- CCATCCCTGTGGAGAGAGTATAAC -3'
|
Posted On |
2019-09-13 |