Incidental Mutation 'R9144:Arap1'
| ID |
694496 |
| 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 |
068935-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101047602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 803
(I803T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000155754]
|
| AlphaFold |
Q4LDD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084895
AA Change: I555T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: I555T
| 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 damaging
Transcript: ENSMUST00000084896
AA Change: I803T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: I803T
| 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 damaging
Transcript: ENSMUST00000098243
AA Change: I89T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
AA Change: I89T
| 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 |
probably damaging
Transcript: ENSMUST00000107010
AA Change: I803T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: I803T
| 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: ENSMUST00000155754
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
C |
T |
9: 44,192,708 (GRCm39) |
V176M |
possibly damaging |
Het |
| Acp5 |
T |
C |
9: 22,041,242 (GRCm39) |
T62A |
probably benign |
Het |
| Alad |
A |
T |
4: 62,430,257 (GRCm39) |
D88E |
probably damaging |
Het |
| Bckdhb |
C |
A |
9: 83,894,662 (GRCm39) |
T312K |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,722,667 (GRCm39) |
V138A |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,978,512 (GRCm39) |
Y176C |
probably damaging |
Het |
| Creld1 |
A |
T |
6: 113,461,468 (GRCm39) |
T63S |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,218,639 (GRCm39) |
T878I |
possibly damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,018,463 (GRCm39) |
R873H |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,935,564 (GRCm39) |
V466A |
possibly damaging |
Het |
| Ercc5 |
T |
A |
1: 44,213,511 (GRCm39) |
Y836N |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,958 (GRCm39) |
D160G |
|
Het |
| Fgfr4 |
A |
T |
13: 55,315,837 (GRCm39) |
|
probably null |
Het |
| Fpr1 |
A |
T |
17: 18,097,626 (GRCm39) |
V121D |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,362,049 (GRCm39) |
K218E |
probably benign |
Het |
| Galnt12 |
T |
C |
4: 47,113,822 (GRCm39) |
L372P |
|
Het |
| Gldc |
A |
G |
19: 30,114,593 (GRCm39) |
F439S |
|
Het |
| Gm6465 |
A |
G |
5: 11,896,726 (GRCm39) |
T32A |
possibly damaging |
Het |
| Has2 |
T |
C |
15: 56,545,588 (GRCm39) |
R5G |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,317,599 (GRCm39) |
Y366C |
probably damaging |
Het |
| Ier2 |
C |
T |
8: 85,389,266 (GRCm39) |
V39I |
probably benign |
Het |
| Ifi214 |
A |
G |
1: 173,355,434 (GRCm39) |
S125P |
possibly damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,451 (GRCm39) |
D230G |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,927,558 (GRCm39) |
Y140F |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,427,055 (GRCm39) |
V140A |
probably damaging |
Het |
| Klra5 |
C |
T |
6: 129,886,911 (GRCm39) |
C39Y |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,856,426 (GRCm39) |
I699M |
probably damaging |
Het |
| Mak |
C |
A |
13: 41,201,594 (GRCm39) |
E256* |
probably null |
Het |
| Mark3 |
C |
A |
12: 111,606,376 (GRCm39) |
N496K |
probably benign |
Het |
| Mex3c |
A |
G |
18: 73,723,397 (GRCm39) |
T497A |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,467,805 (GRCm39) |
I1160V |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,349,587 (GRCm39) |
T2518A |
probably benign |
Het |
| Nsg1 |
A |
G |
5: 38,302,088 (GRCm39) |
Y108H |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,960,103 (GRCm39) |
S3255P |
possibly damaging |
Het |
| Or5w18 |
A |
G |
2: 87,633,482 (GRCm39) |
T246A |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,162,496 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Ppp2r5e |
C |
T |
12: 75,506,468 (GRCm39) |
R433H |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,596,721 (GRCm39) |
C629S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,473 (GRCm39) |
S56R |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,124 (GRCm39) |
V170A |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,003,900 (GRCm39) |
N1803K |
probably benign |
Het |
| Rmdn3 |
G |
T |
2: 118,969,847 (GRCm39) |
Q405K |
probably benign |
Het |
| Rpap3 |
G |
A |
15: 97,589,184 (GRCm39) |
T250M |
possibly damaging |
Het |
| Rraga |
T |
C |
4: 86,494,796 (GRCm39) |
I214T |
probably damaging |
Het |
| Rundc3a |
A |
T |
11: 102,290,862 (GRCm39) |
Q315L |
probably benign |
Het |
| Sh3bgr |
T |
A |
16: 96,001,931 (GRCm39) |
S10T |
probably benign |
Het |
| Skint6 |
A |
T |
4: 112,985,102 (GRCm39) |
S421R |
possibly damaging |
Het |
| Spag16 |
G |
C |
1: 70,420,459 (GRCm39) |
L482F |
probably damaging |
Het |
| Sppl2a |
A |
G |
2: 126,769,743 (GRCm39) |
S38P |
probably benign |
Het |
| Tex14 |
T |
A |
11: 87,413,423 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
G |
A |
17: 6,346,048 (GRCm39) |
V181M |
possibly damaging |
Het |
| Traf3 |
T |
A |
12: 111,228,294 (GRCm39) |
S502T |
probably benign |
Het |
| Trav9n-4 |
T |
G |
14: 53,532,236 (GRCm39) |
V30G |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,765,122 (GRCm39) |
V960L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,173,649 (GRCm39) |
D1492E |
unknown |
Het |
| Usp44 |
A |
G |
10: 93,681,645 (GRCm39) |
T32A |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,612 (GRCm39) |
M168T |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,788 (GRCm39) |
I288V |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,676,794 (GRCm39) |
T2615A |
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 |
|
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 |
|
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'- ACTAGGTATAGAGGGCTGCAGC -3'
(R):5'- CAGCCTCATGAGCTAAGGTC -3'
Sequencing Primer
(F):5'- TGCAGCTGGGGGAATACTC -3'
(R):5'- CCTCATGAGCTAAGGTCAATGTTTAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation