Incidental Mutation 'R8104:Arfgap1'
| ID |
630630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arfgap1
|
| Ensembl Gene |
ENSMUSG00000027575 |
| Gene Name |
ADP-ribosylation factor GTPase activating protein 1 |
| Synonyms |
ARF1 GAP |
| MMRRC Submission |
067535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8104 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180609018-180624319 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 180621022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029092]
[ENSMUST00000029092]
[ENSMUST00000029092]
[ENSMUST00000108859]
[ENSMUST00000108859]
[ENSMUST00000108859]
[ENSMUST00000108860]
[ENSMUST00000108860]
[ENSMUST00000108860]
[ENSMUST00000108861]
[ENSMUST00000108861]
[ENSMUST00000108861]
[ENSMUST00000108862]
[ENSMUST00000108862]
[ENSMUST00000108862]
[ENSMUST00000184394]
[ENSMUST00000184394]
[ENSMUST00000184394]
[ENSMUST00000185115]
[ENSMUST00000185115]
[ENSMUST00000185115]
|
| AlphaFold |
Q9EPJ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029092
|
| SMART Domains |
Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029092
|
| SMART Domains |
Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029092
|
| SMART Domains |
Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108859
|
| SMART Domains |
Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108859
|
| SMART Domains |
Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108859
|
| SMART Domains |
Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108860
|
| SMART Domains |
Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108860
|
| SMART Domains |
Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108860
|
| SMART Domains |
Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108861
|
| SMART Domains |
Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108861
|
| SMART Domains |
Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108861
|
| SMART Domains |
Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108862
|
| SMART Domains |
Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108862
|
| SMART Domains |
Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108862
|
| SMART Domains |
Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184394
|
| SMART Domains |
Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
298 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184394
|
| SMART Domains |
Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
298 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184394
|
| SMART Domains |
Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
298 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185115
|
| SMART Domains |
Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185115
|
| SMART Domains |
Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185115
|
| SMART Domains |
Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
411 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.6%
- 20x: 94.6%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
C |
A |
17: 57,152,443 (GRCm39) |
L666F |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Apoc3 |
T |
G |
9: 46,144,585 (GRCm39) |
D79A |
probably damaging |
Het |
| Ascc1 |
T |
C |
10: 59,843,551 (GRCm39) |
S38P |
probably benign |
Het |
| Asl |
C |
T |
5: 130,040,791 (GRCm39) |
E389K |
probably benign |
Het |
| Atat1 |
A |
T |
17: 36,215,008 (GRCm39) |
I215K |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,991,075 (GRCm39) |
L160* |
probably null |
Het |
| Cbl |
C |
A |
9: 44,069,836 (GRCm39) |
S637I |
possibly damaging |
Het |
| Ccdc112 |
A |
C |
18: 46,420,720 (GRCm39) |
S343R |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,799,925 (GRCm39) |
S250P |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,456,263 (GRCm39) |
F770I |
|
Het |
| Dlgap3 |
A |
G |
4: 127,129,947 (GRCm39) |
E907G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,352,600 (GRCm39) |
E159D |
probably benign |
Het |
| Ech1 |
G |
A |
7: 28,524,728 (GRCm39) |
|
probably benign |
Het |
| Erbin |
G |
T |
13: 103,971,485 (GRCm39) |
N710K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,155,357 (GRCm39) |
|
probably null |
Het |
| Gm4871 |
G |
C |
5: 144,969,012 (GRCm39) |
D100E |
probably damaging |
Het |
| Got1l1 |
A |
G |
8: 27,687,619 (GRCm39) |
I388T |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,744,166 (GRCm39) |
N184K |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,145 (GRCm39) |
L24* |
probably null |
Het |
| Lig1 |
T |
C |
7: 13,020,491 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,255,794 (GRCm39) |
Y488H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,358,520 (GRCm39) |
Y1240C |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,828 (GRCm39) |
T1458A |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,527,778 (GRCm39) |
E472G |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,391,685 (GRCm39) |
H664L |
possibly damaging |
Het |
| Ntrk3 |
A |
G |
7: 78,227,450 (GRCm39) |
S28P |
probably damaging |
Het |
| Or14a257 |
A |
G |
7: 86,138,231 (GRCm39) |
F176S |
probably damaging |
Het |
| Or1i2 |
C |
T |
10: 78,448,242 (GRCm39) |
V78I |
probably benign |
Het |
| Or2ag17 |
T |
A |
7: 106,390,338 (GRCm39) |
|
probably benign |
Het |
| Or2ag17 |
C |
A |
7: 106,390,337 (GRCm39) |
|
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,826 (GRCm39) |
M140K |
probably benign |
Het |
| Pcdha4 |
G |
T |
18: 37,087,106 (GRCm39) |
G430W |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,030,385 (GRCm39) |
Y1114* |
probably null |
Het |
| Pde6a |
T |
A |
18: 61,364,566 (GRCm39) |
D207E |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,902,326 (GRCm39) |
I540N |
|
Het |
| Pnp2 |
A |
T |
14: 51,197,099 (GRCm39) |
I62F |
probably benign |
Het |
| Rarg |
C |
A |
15: 102,148,334 (GRCm39) |
D258Y |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,643,484 (GRCm39) |
M262K |
unknown |
Het |
| Scaf11 |
T |
C |
15: 96,316,483 (GRCm39) |
D1027G |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,079,110 (GRCm39) |
|
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,744,297 (GRCm39) |
|
probably null |
Het |
| Slc44a3 |
A |
C |
3: 121,291,521 (GRCm39) |
V365G |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,904,754 (GRCm39) |
F26L |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,757,809 (GRCm39) |
I116K |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,665,756 (GRCm39) |
S700T |
probably benign |
Het |
| Tekt3 |
A |
G |
11: 62,968,945 (GRCm39) |
D224G |
probably benign |
Het |
| Tgtp1 |
A |
T |
11: 48,877,841 (GRCm39) |
I288N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,710,567 (GRCm39) |
V8485M |
unknown |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,306,280 (GRCm39) |
I79K |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,593,766 (GRCm39) |
D2215N |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,923,350 (GRCm39) |
A32V |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,630,301 (GRCm39) |
D170G |
probably benign |
Het |
|
| Other mutations in Arfgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Arfgap1
|
APN |
2 |
180,614,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01521:Arfgap1
|
APN |
2 |
180,613,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Arfgap1
|
APN |
2 |
180,622,237 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1858:Arfgap1
|
UTSW |
2 |
180,615,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Arfgap1
|
UTSW |
2 |
180,614,575 (GRCm39) |
missense |
probably benign |
|
|
R2509:Arfgap1
|
UTSW |
2 |
180,615,846 (GRCm39) |
splice site |
probably benign |
|
|
R4423:Arfgap1
|
UTSW |
2 |
180,622,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Arfgap1
|
UTSW |
2 |
180,622,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Arfgap1
|
UTSW |
2 |
180,622,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4569:Arfgap1
|
UTSW |
2 |
180,618,166 (GRCm39) |
splice site |
probably benign |
|
|
R5668:Arfgap1
|
UTSW |
2 |
180,615,912 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5834:Arfgap1
|
UTSW |
2 |
180,622,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5915:Arfgap1
|
UTSW |
2 |
180,620,215 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6819:Arfgap1
|
UTSW |
2 |
180,613,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7011:Arfgap1
|
UTSW |
2 |
180,613,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Arfgap1
|
UTSW |
2 |
180,618,097 (GRCm39) |
splice site |
probably null |
|
|
R7069:Arfgap1
|
UTSW |
2 |
180,615,913 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7350:Arfgap1
|
UTSW |
2 |
180,612,869 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9110:Arfgap1
|
UTSW |
2 |
180,615,330 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTCCCTTCATAGCGTGATTC -3'
(R):5'- GGATGTCCTTGGGAACTGAC -3'
Sequencing Primer
(F):5'- TGACATTGCTTCCCATGTGG -3'
(R):5'- TGTCCTTGGGAACTGACTAGGAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation