Incidental Mutation 'R7801:Agap1'
| ID |
600508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agap1
|
| Ensembl Gene |
ENSMUSG00000055013 |
| Gene Name |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
| Synonyms |
Ggap1, Centg2 |
| MMRRC Submission |
045856-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R7801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89558207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 165
(Y165C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027521]
[ENSMUST00000074945]
[ENSMUST00000190096]
[ENSMUST00000212721]
|
| AlphaFold |
Q8BXK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027521
AA Change: Y165C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: Y165C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
73 |
231 |
1.1e-18 |
PFAM |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
PH
|
347 |
590 |
1.36e-15 |
SMART |
|
ArfGap
|
609 |
729 |
4.58e-51 |
SMART |
|
ANK
|
768 |
797 |
1.83e-3 |
SMART |
|
ANK
|
801 |
832 |
1.33e2 |
SMART |
|
low complexity region
|
840 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074945
AA Change: Y31C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: Y31C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
73 |
181 |
5e-24 |
PFAM |
|
Pfam:Ras
|
73 |
231 |
3e-19 |
PFAM |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
PH
|
347 |
537 |
7.93e-17 |
SMART |
|
ArfGap
|
556 |
676 |
4.58e-51 |
SMART |
|
ANK
|
715 |
744 |
1.83e-3 |
SMART |
|
ANK
|
748 |
779 |
1.33e2 |
SMART |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190096
AA Change: Y165C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: Y165C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
73 |
181 |
5e-24 |
PFAM |
|
Pfam:Ras
|
73 |
231 |
3e-19 |
PFAM |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
PH
|
347 |
537 |
7.93e-17 |
SMART |
|
ArfGap
|
556 |
676 |
4.58e-51 |
SMART |
|
ANK
|
715 |
744 |
1.83e-3 |
SMART |
|
ANK
|
748 |
779 |
1.33e2 |
SMART |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212721
|
| Meta Mutation Damage Score |
0.3565 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
T |
6: 34,816,300 (GRCm39) |
T742S |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,271,578 (GRCm39) |
T651A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,998,835 (GRCm39) |
I381N |
probably damaging |
Het |
| Blzf1 |
A |
G |
1: 164,123,478 (GRCm39) |
V283A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,489,476 (GRCm38) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,022,706 (GRCm39) |
T591S |
probably damaging |
Het |
| Ccne2 |
T |
C |
4: 11,194,079 (GRCm39) |
|
probably null |
Het |
| Chst9 |
T |
C |
18: 15,585,334 (GRCm39) |
T410A |
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,437,172 (GRCm39) |
D169G |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,495,260 (GRCm39) |
P4116L |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,124,189 (GRCm39) |
A166S |
probably damaging |
Het |
| Gbf1 |
A |
G |
19: 46,261,082 (GRCm39) |
I1216V |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,443 (GRCm39) |
A263T |
probably benign |
Het |
| Hdlbp |
G |
T |
1: 93,358,029 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
A |
T |
12: 113,323,436 (GRCm39) |
L280Q |
|
Het |
| Impa1 |
T |
C |
3: 10,386,727 (GRCm39) |
T171A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,859 (GRCm39) |
Y744N |
possibly damaging |
Het |
| Irgc |
G |
T |
7: 24,131,959 (GRCm39) |
A286D |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,118,190 (GRCm39) |
S2P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,302,064 (GRCm39) |
W813R |
probably damaging |
Het |
| Mapkbp1 |
T |
G |
2: 119,842,554 (GRCm39) |
H157Q |
probably damaging |
Het |
| Mfsd4b2 |
T |
A |
10: 39,799,777 (GRCm39) |
M42L |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,895,091 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,684,240 (GRCm39) |
H161L |
probably benign |
Het |
| Or2aj6 |
T |
C |
16: 19,443,373 (GRCm39) |
H159R |
probably damaging |
Het |
| Or7g19 |
A |
C |
9: 18,856,555 (GRCm39) |
S204R |
probably damaging |
Het |
| Phlpp2 |
T |
G |
8: 110,652,474 (GRCm39) |
V606G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,968,297 (GRCm39) |
T546A |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,201 (GRCm39) |
V123D |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,037,584 (GRCm39) |
M146V |
possibly damaging |
Het |
| Rptn |
G |
A |
3: 93,305,531 (GRCm39) |
E955K |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,139,770 (GRCm39) |
V301F |
possibly damaging |
Het |
| Sh2b1 |
C |
A |
7: 126,070,464 (GRCm39) |
C380F |
probably benign |
Het |
| Shank1 |
A |
G |
7: 44,001,022 (GRCm39) |
M914V |
unknown |
Het |
| Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,143 (GRCm39) |
F574S |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 119,975,064 (GRCm39) |
E29G |
probably benign |
Het |
| Trpm5 |
A |
C |
7: 142,638,978 (GRCm39) |
D264E |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,251,639 (GRCm39) |
S88G |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,155 (GRCm39) |
F749I |
possibly damaging |
Het |
| Zfp677 |
T |
A |
17: 21,618,277 (GRCm39) |
S445T |
probably damaging |
Het |
| Zfp979 |
A |
C |
4: 147,698,435 (GRCm39) |
N91K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,542,192 (GRCm39) |
V209A |
possibly damaging |
Het |
| Zic4 |
G |
T |
9: 91,266,297 (GRCm39) |
A314S |
probably benign |
Het |
|
| Other mutations in Agap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Agap1
|
APN |
1 |
89,591,518 (GRCm39) |
splice site |
probably benign |
|
|
IGL00310:Agap1
|
APN |
1 |
89,815,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01104:Agap1
|
APN |
1 |
89,653,797 (GRCm39) |
splice site |
probably benign |
|
|
IGL02227:Agap1
|
APN |
1 |
89,591,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02959:Agap1
|
APN |
1 |
89,770,913 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03303:Agap1
|
APN |
1 |
89,592,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Agap1
|
UTSW |
1 |
89,815,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Agap1
|
UTSW |
1 |
89,816,466 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Agap1
|
UTSW |
1 |
89,598,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Agap1
|
UTSW |
1 |
89,598,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Agap1
|
UTSW |
1 |
89,770,972 (GRCm39) |
splice site |
probably benign |
|
|
R1104:Agap1
|
UTSW |
1 |
89,716,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1160:Agap1
|
UTSW |
1 |
89,770,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1439:Agap1
|
UTSW |
1 |
89,770,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Agap1
|
UTSW |
1 |
89,765,528 (GRCm39) |
splice site |
probably null |
|
|
R1644:Agap1
|
UTSW |
1 |
89,591,452 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1984:Agap1
|
UTSW |
1 |
89,694,045 (GRCm39) |
missense |
probably benign |
|
|
R2141:Agap1
|
UTSW |
1 |
89,765,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3966:Agap1
|
UTSW |
1 |
89,762,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4195:Agap1
|
UTSW |
1 |
89,762,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4669:Agap1
|
UTSW |
1 |
89,765,528 (GRCm39) |
splice site |
probably null |
|
|
R4951:Agap1
|
UTSW |
1 |
89,537,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Agap1
|
UTSW |
1 |
89,671,495 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5843:Agap1
|
UTSW |
1 |
89,537,272 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5930:Agap1
|
UTSW |
1 |
89,770,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Agap1
|
UTSW |
1 |
89,558,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Agap1
|
UTSW |
1 |
89,558,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Agap1
|
UTSW |
1 |
89,694,177 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7027:Agap1
|
UTSW |
1 |
89,816,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7207:Agap1
|
UTSW |
1 |
89,770,821 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7268:Agap1
|
UTSW |
1 |
89,694,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7289:Agap1
|
UTSW |
1 |
89,383,153 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R7689:Agap1
|
UTSW |
1 |
89,762,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Agap1
|
UTSW |
1 |
89,770,793 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7849:Agap1
|
UTSW |
1 |
89,558,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8364:Agap1
|
UTSW |
1 |
89,815,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8491:Agap1
|
UTSW |
1 |
89,537,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Agap1
|
UTSW |
1 |
89,694,188 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9040:Agap1
|
UTSW |
1 |
89,671,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9254:Agap1
|
UTSW |
1 |
89,653,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Agap1
|
UTSW |
1 |
89,765,485 (GRCm39) |
missense |
probably benign |
|
|
RF015:Agap1
|
UTSW |
1 |
89,561,985 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTAATTTGGCCATAGTGCATAC -3'
(R):5'- CCTGAGTGTCATTTCCATAGCAC -3'
Sequencing Primer
(F):5'- TGCATACACGGACGTCAG -3'
(R):5'- CACGTGATGGTAATTCTCATTCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation