Incidental Mutation 'R7191:Arap1'
| ID |
559596 |
| 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 |
045274-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7191 (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 101034199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 214
(C214R)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
| 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: C214R
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: C214R
| 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: C214R
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: C214R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
A |
16: 21,472,314 (GRCm39) |
I129F |
probably benign |
Het |
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,740,041 (GRCm39) |
T1948S |
unknown |
Het |
| Ccdc82 |
C |
T |
9: 13,252,097 (GRCm39) |
Q130* |
probably null |
Het |
| Cfh |
A |
C |
1: 140,040,305 (GRCm39) |
V597G |
probably benign |
Het |
| Clp1 |
A |
T |
2: 84,554,490 (GRCm39) |
C226* |
probably null |
Het |
| Cyp39a1 |
G |
A |
17: 44,041,910 (GRCm39) |
W372* |
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,414,646 (GRCm39) |
P799S |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,646,250 (GRCm39) |
N167I |
unknown |
Het |
| Dock10 |
A |
G |
1: 80,518,048 (GRCm39) |
S1310P |
possibly damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,762,771 (GRCm39) |
T758A |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gcg |
C |
G |
2: 62,307,183 (GRCm39) |
G126A |
probably damaging |
Het |
| Get1 |
A |
G |
16: 95,953,145 (GRCm39) |
I79V |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,040,266 (GRCm39) |
K633E |
probably benign |
Het |
| Gpr4 |
T |
C |
7: 18,957,155 (GRCm39) |
V359A |
probably benign |
Het |
| Gprc5c |
C |
T |
11: 114,759,443 (GRCm39) |
T422M |
possibly damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,392 (GRCm39) |
V207L |
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,239,295 (GRCm39) |
*789W |
probably null |
Het |
| Iigp1c |
A |
T |
18: 60,379,329 (GRCm39) |
D288V |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,591,257 (GRCm39) |
|
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Krt16 |
T |
C |
11: 100,137,484 (GRCm39) |
E407G |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,110 (GRCm39) |
D381G |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,679,027 (GRCm39) |
G357S |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,759 (GRCm39) |
V105I |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,852 (GRCm39) |
Q340R |
probably benign |
Het |
| Mpzl3 |
T |
G |
9: 44,966,542 (GRCm39) |
M1R |
probably null |
Het |
| Nrcam |
A |
G |
12: 44,619,027 (GRCm39) |
N852S |
probably benign |
Het |
| Nudcd2 |
C |
T |
11: 40,627,430 (GRCm39) |
Q117* |
probably null |
Het |
| Nup35 |
A |
T |
2: 80,488,723 (GRCm39) |
E320V |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or5p56 |
G |
A |
7: 107,589,853 (GRCm39) |
V94M |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,628,943 (GRCm39) |
H668R |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,028,782 (GRCm39) |
D333V |
probably benign |
Het |
| Rdh16 |
A |
G |
10: 127,649,287 (GRCm39) |
K248E |
probably benign |
Het |
| Samd4b |
C |
A |
7: 28,113,686 (GRCm39) |
G93V |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,165,476 (GRCm39) |
I78T |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,167,575 (GRCm39) |
I647V |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,417,093 (GRCm39) |
V157A |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,708,113 (GRCm39) |
M951T |
probably benign |
Het |
| Tas2r105 |
T |
C |
6: 131,663,945 (GRCm39) |
N161S |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,443,316 (GRCm39) |
F581L |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,847,216 (GRCm39) |
N352D |
probably benign |
Het |
| Trim29 |
A |
G |
9: 43,222,906 (GRCm39) |
Y245C |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,771,201 (GRCm39) |
I443V |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,159,660 (GRCm39) |
E595K |
probably benign |
Het |
| Vmn2r51 |
T |
A |
7: 9,834,480 (GRCm39) |
Y186F |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,150,548 (GRCm39) |
Y465C |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,379,561 (GRCm39) |
H324Q |
probably damaging |
Het |
| Zfp987 |
A |
G |
4: 146,058,473 (GRCm39) |
D17G |
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 |
|
|
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 |
PCR Primer
(F):5'- ATGCTTGCCTAGTGAGCAG -3'
(R):5'- AAAGGACGTGCTCTTTGAGAAG -3'
Sequencing Primer
(F):5'- TAGTGAGCAGGGCCTCAGTG -3'
(R):5'- GCTCTTTGAGAAGGCTTACGACAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation