Incidental Mutation 'R8364:Agap1'
| ID |
646080 |
| 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 |
067873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R8364 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89815396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 761
(N761K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027521]
[ENSMUST00000074945]
[ENSMUST00000190096]
|
| AlphaFold |
Q8BXK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027521
AA Change: N761K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: N761K
| 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 |
possibly damaging
Transcript: ENSMUST00000074945
AA Change: N574K
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: N574K
| 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: N708K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: N708K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Apol7a |
A |
G |
15: 77,273,820 (GRCm39) |
V214A |
possibly damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,025,632 (GRCm39) |
Q3K |
unknown |
Het |
| Bpifc |
A |
T |
10: 85,797,891 (GRCm39) |
I456N |
probably damaging |
Het |
| Cers6 |
C |
T |
2: 68,692,083 (GRCm39) |
A35V |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,462,274 (GRCm39) |
Y986F |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 48,536,837 (GRCm39) |
Y122N |
probably damaging |
Het |
| Ddit4l |
T |
A |
3: 137,329,996 (GRCm39) |
L18* |
probably null |
Het |
| Epb41l3 |
T |
C |
17: 69,573,429 (GRCm39) |
|
probably null |
Het |
| Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,687 (GRCm39) |
V890L |
possibly damaging |
Het |
| Hivep3 |
A |
T |
4: 119,956,639 (GRCm39) |
M1652L |
probably benign |
Het |
| Ighv1-19 |
G |
T |
12: 114,672,546 (GRCm39) |
Q25K |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,481,787 (GRCm39) |
L489P |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,813,104 (GRCm39) |
R160G |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,661,404 (GRCm39) |
D515G |
probably damaging |
Het |
| Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
| Lgalsl |
T |
A |
11: 20,781,009 (GRCm39) |
M1L |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,259 (GRCm39) |
T291S |
probably benign |
Het |
| Morc2b |
G |
A |
17: 33,357,214 (GRCm39) |
T186I |
probably benign |
Het |
| Mup20 |
G |
T |
4: 61,969,768 (GRCm39) |
S157R |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,490,140 (GRCm39) |
V529A |
probably benign |
Het |
| Nps |
T |
A |
7: 134,870,543 (GRCm39) |
W22R |
probably benign |
Het |
| Nradd |
C |
A |
9: 110,450,536 (GRCm39) |
V214L |
probably damaging |
Het |
| Ogfrl1 |
G |
A |
1: 23,414,824 (GRCm39) |
Q228* |
probably null |
Het |
| Or10g9 |
T |
C |
9: 39,911,660 (GRCm39) |
T288A |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,770,910 (GRCm39) |
I82N |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,358 (GRCm39) |
C257Y |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,894,176 (GRCm39) |
T735A |
possibly damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,910 (GRCm39) |
P101T |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,225,716 (GRCm39) |
Y455F |
possibly damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,696,774 (GRCm39) |
M330V |
possibly damaging |
Het |
| Sypl2 |
T |
C |
3: 108,125,050 (GRCm39) |
T104A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,421,313 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
C |
A |
1: 105,745,412 (GRCm39) |
T150K |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,593,230 (GRCm39) |
L311P |
possibly damaging |
Het |
| Ttc7b |
T |
C |
12: 100,291,817 (GRCm39) |
S766G |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,037 (GRCm39) |
T478A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,685,192 (GRCm39) |
T593I |
possibly damaging |
Het |
| Zfp407 |
A |
G |
18: 84,570,993 (GRCm39) |
|
probably null |
Het |
| Zfp872 |
G |
A |
9: 22,111,540 (GRCm39) |
G340R |
probably damaging |
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 |
|
R7801:Agap1
|
UTSW |
1 |
89,558,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Agap1
|
UTSW |
1 |
89,558,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGTTCTAACGCATGCCTGTG -3'
(R):5'- AGTTCAAATCCTGCTAGGGTCAG -3'
Sequencing Primer
(F):5'- CTAACGCATGCCTGTGTGGTG -3'
(R):5'- TTGCTGTCCCAGGGAGAACTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation