Incidental Mutation 'R6645:Arap1'
ID |
526070 |
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 |
044766-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6645 (G1)
|
Quality Score |
183.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101057318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 628
(K628R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
|
AlphaFold |
Q4LDD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084894
|
SMART Domains |
Protein: ENSMUSP00000081956 Gene: ENSMUSG00000030653
Domain | Start | End | E-Value | Type |
Blast:GAF
|
57 |
181 |
4e-76 |
BLAST |
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
GAF
|
235 |
382 |
2.2e-21 |
SMART |
GAF
|
404 |
553 |
6.11e-38 |
SMART |
HDc
|
648 |
817 |
9.04e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084895
AA Change: K1094R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000081957 Gene: ENSMUSG00000032812 AA Change: K1094R
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: K1353R
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000081958 Gene: ENSMUSG00000032812 AA Change: K1353R
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 |
possibly damaging
Transcript: ENSMUST00000098243
AA Change: K628R
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095844 Gene: ENSMUSG00000032812 AA Change: K628R
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 benign
Transcript: ENSMUST00000107010
AA Change: K1342R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000102624 Gene: ENSMUSG00000032812 AA Change: K1342R
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: ENSMUST00000124637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210162
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anp32e |
T |
A |
3: 95,844,414 (GRCm39) |
F95I |
probably damaging |
Het |
Arid4b |
A |
T |
13: 14,294,737 (GRCm39) |
E6D |
probably damaging |
Het |
Atxn10 |
G |
T |
15: 85,260,904 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
A |
G |
10: 4,510,974 (GRCm39) |
I678V |
possibly damaging |
Het |
Ccdc18 |
T |
A |
5: 108,286,796 (GRCm39) |
V110D |
probably benign |
Het |
Cep85l |
C |
T |
10: 53,177,768 (GRCm39) |
E322K |
probably benign |
Het |
Cilp |
A |
T |
9: 65,186,587 (GRCm39) |
Y894F |
possibly damaging |
Het |
Ddx4 |
A |
G |
13: 112,777,708 (GRCm39) |
S62P |
possibly damaging |
Het |
Dph7 |
T |
C |
2: 24,855,663 (GRCm39) |
V154A |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,594,206 (GRCm39) |
S579P |
probably benign |
Het |
Fam53a |
G |
T |
5: 33,758,128 (GRCm39) |
Q332K |
probably benign |
Het |
Fancm |
A |
G |
12: 65,152,874 (GRCm39) |
D1110G |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,442,442 (GRCm39) |
V136E |
possibly damaging |
Het |
Greb1 |
G |
T |
12: 16,748,580 (GRCm39) |
H1132Q |
probably benign |
Het |
Jph1 |
A |
G |
1: 17,161,985 (GRCm39) |
S226P |
probably damaging |
Het |
Kbtbd8 |
C |
T |
6: 95,103,730 (GRCm39) |
R460* |
probably null |
Het |
Lama5 |
T |
A |
2: 179,821,463 (GRCm39) |
N3059Y |
probably damaging |
Het |
Lipc |
G |
A |
9: 70,711,030 (GRCm39) |
T289I |
probably damaging |
Het |
Lrrc2 |
T |
C |
9: 110,799,175 (GRCm39) |
W241R |
probably damaging |
Het |
Mfn2 |
T |
A |
4: 147,979,069 (GRCm39) |
I88F |
probably damaging |
Het |
Mms19 |
G |
C |
19: 41,943,630 (GRCm39) |
N366K |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,368,118 (GRCm39) |
T293A |
probably benign |
Het |
Ndfip2 |
T |
A |
14: 105,529,707 (GRCm39) |
Y179N |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,806,790 (GRCm39) |
D1909G |
probably benign |
Het |
Obscn |
C |
T |
11: 58,976,088 (GRCm39) |
S2013N |
probably damaging |
Het |
Oca2 |
G |
T |
7: 55,964,522 (GRCm39) |
A357S |
probably benign |
Het |
Or8b43 |
T |
C |
9: 38,360,219 (GRCm39) |
L17S |
probably damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,562 (GRCm39) |
L153F |
probably benign |
Het |
Pde7b |
C |
A |
10: 20,486,312 (GRCm39) |
|
probably null |
Het |
Ppef2 |
T |
C |
5: 92,378,320 (GRCm39) |
N625S |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,204,856 (GRCm39) |
L192Q |
probably damaging |
Het |
Satb2 |
T |
C |
1: 56,836,166 (GRCm39) |
I542V |
possibly damaging |
Het |
Sgpp2 |
C |
T |
1: 78,336,799 (GRCm39) |
T59M |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,749,235 (GRCm39) |
T782A |
possibly damaging |
Het |
Slc13a4 |
G |
T |
6: 35,245,774 (GRCm39) |
Q624K |
probably benign |
Het |
Slc9a3 |
T |
A |
13: 74,312,291 (GRCm39) |
H629Q |
probably damaging |
Het |
Slitrk3 |
G |
T |
3: 72,957,194 (GRCm39) |
A526E |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,722,198 (GRCm39) |
D994V |
probably benign |
Het |
Sptssa |
T |
C |
12: 54,693,275 (GRCm39) |
Y53C |
probably damaging |
Het |
Srsf10 |
T |
C |
4: 135,590,874 (GRCm39) |
S159P |
possibly damaging |
Het |
Tbce |
T |
C |
13: 14,179,814 (GRCm39) |
T341A |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,935,423 (GRCm39) |
L1875P |
probably benign |
Het |
Tkt |
G |
A |
14: 30,292,168 (GRCm39) |
G425R |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,511,326 (GRCm39) |
I17M |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,066,721 (GRCm39) |
S311G |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,029,750 (GRCm39) |
Y492H |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,255,528 (GRCm39) |
I1535T |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,576,247 (GRCm39) |
N373Y |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,464,297 (GRCm39) |
V179E |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,910,451 (GRCm39) |
E3405G |
probably benign |
Het |
Wac |
A |
T |
18: 7,973,523 (GRCm39) |
Q212H |
probably damaging |
Het |
Washc4 |
C |
T |
10: 83,408,059 (GRCm39) |
R555* |
probably null |
Het |
Zmat4 |
G |
A |
8: 24,287,417 (GRCm39) |
|
probably null |
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 |
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 |
PCR Primer
(F):5'- CTTTGGCTGGACAATGAACAGG -3'
(R):5'- AGGTATGTCTCGGTGATGCTAC -3'
Sequencing Primer
(F):5'- AGGAGCCCTGTTCCAGAATG -3'
(R):5'- ATGTCTCGGTGATGCTACTAGCC -3'
|
Posted On |
2018-06-22 |