Incidental Mutation 'R1427:Agap3'
ID |
161352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agap3
|
Ensembl Gene |
ENSMUSG00000023353 |
Gene Name |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 |
Synonyms |
Centg3, MRIP-1, Crag |
MMRRC Submission |
039483-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R1427 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24657175-24707045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24681691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 333
(T333A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024123]
[ENSMUST00000199856]
[ENSMUST00000212381]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024123
AA Change: T150A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000024123 Gene: ENSMUSG00000023353 AA Change: T150A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
59 |
N/A |
INTRINSIC |
Pfam:Ras
|
128 |
286 |
1.2e-18 |
PFAM |
low complexity region
|
328 |
345 |
N/A |
INTRINSIC |
PH
|
403 |
642 |
2.76e-16 |
SMART |
ArfGap
|
661 |
781 |
9.17e-51 |
SMART |
ANK
|
820 |
849 |
2.43e1 |
SMART |
ANK
|
853 |
885 |
9.17e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199250
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199647
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199856
AA Change: T333A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000142529 Gene: ENSMUSG00000023353 AA Change: T333A
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
50 |
N/A |
INTRINSIC |
low complexity region
|
66 |
108 |
N/A |
INTRINSIC |
low complexity region
|
242 |
255 |
N/A |
INTRINSIC |
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
small_GTPase
|
307 |
473 |
3.2e-11 |
SMART |
low complexity region
|
511 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212381
AA Change: T150A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
G |
4: 144,349,610 (GRCm39) |
N289S |
probably damaging |
Het |
Abhd12b |
A |
G |
12: 70,229,193 (GRCm39) |
D223G |
probably damaging |
Het |
Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
Clcnkb |
A |
G |
4: 141,132,620 (GRCm39) |
L603P |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,415,398 (GRCm39) |
D626G |
probably benign |
Het |
Eml3 |
T |
C |
19: 8,911,225 (GRCm39) |
Y285H |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,893,030 (GRCm39) |
T945A |
probably benign |
Het |
Iars1 |
A |
T |
13: 49,857,745 (GRCm39) |
|
probably null |
Het |
Kalrn |
A |
G |
16: 33,796,124 (GRCm39) |
F1217S |
probably damaging |
Het |
Lipf |
T |
C |
19: 33,943,000 (GRCm39) |
F103L |
probably damaging |
Het |
Lpar2 |
C |
A |
8: 70,276,700 (GRCm39) |
A163E |
possibly damaging |
Het |
Myh1 |
T |
C |
11: 67,110,573 (GRCm39) |
Y1495H |
probably damaging |
Het |
Or5p63 |
A |
G |
7: 107,811,301 (GRCm39) |
I145T |
probably benign |
Het |
Ppp3ca |
T |
A |
3: 136,627,675 (GRCm39) |
L413H |
probably damaging |
Het |
Ptpn7 |
T |
C |
1: 135,062,192 (GRCm39) |
V46A |
possibly damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Sec23ip |
C |
T |
7: 128,378,609 (GRCm39) |
R808C |
probably damaging |
Het |
Slc25a26 |
T |
C |
6: 94,487,828 (GRCm39) |
S96P |
probably damaging |
Het |
Stard13 |
G |
A |
5: 150,969,456 (GRCm39) |
R898W |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,492,255 (GRCm39) |
V1063A |
probably benign |
Het |
Tm6sf2 |
T |
G |
8: 70,528,232 (GRCm39) |
M127R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,583,448 (GRCm39) |
W22482R |
probably damaging |
Het |
Zfp384 |
T |
C |
6: 125,001,847 (GRCm39) |
L109P |
probably damaging |
Het |
|
Other mutations in Agap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00574:Agap3
|
APN |
5 |
24,703,107 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00900:Agap3
|
APN |
5 |
24,681,366 (GRCm39) |
splice site |
probably benign |
|
IGL00966:Agap3
|
APN |
5 |
24,706,000 (GRCm39) |
splice site |
probably benign |
|
IGL02207:Agap3
|
APN |
5 |
24,704,934 (GRCm39) |
missense |
probably benign |
|
IGL02431:Agap3
|
APN |
5 |
24,706,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02601:Agap3
|
APN |
5 |
24,688,369 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03090:Agap3
|
APN |
5 |
24,706,204 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03131:Agap3
|
APN |
5 |
24,682,130 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03247:Agap3
|
APN |
5 |
24,692,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Agap3
|
UTSW |
5 |
24,684,743 (GRCm39) |
missense |
probably damaging |
0.98 |
R0344:Agap3
|
UTSW |
5 |
24,656,200 (GRCm39) |
unclassified |
probably benign |
|
R0496:Agap3
|
UTSW |
5 |
24,706,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Agap3
|
UTSW |
5 |
24,705,184 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1840:Agap3
|
UTSW |
5 |
24,705,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Agap3
|
UTSW |
5 |
24,698,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Agap3
|
UTSW |
5 |
24,692,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R4601:Agap3
|
UTSW |
5 |
24,681,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R4745:Agap3
|
UTSW |
5 |
24,656,123 (GRCm39) |
splice site |
probably null |
|
R4807:Agap3
|
UTSW |
5 |
24,682,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R4808:Agap3
|
UTSW |
5 |
24,706,243 (GRCm39) |
missense |
probably benign |
|
R4916:Agap3
|
UTSW |
5 |
24,683,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R5056:Agap3
|
UTSW |
5 |
24,682,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R5094:Agap3
|
UTSW |
5 |
24,656,319 (GRCm39) |
unclassified |
probably benign |
|
R5646:Agap3
|
UTSW |
5 |
24,688,395 (GRCm39) |
missense |
probably benign |
0.01 |
R5937:Agap3
|
UTSW |
5 |
24,682,815 (GRCm39) |
missense |
probably damaging |
0.99 |
R6365:Agap3
|
UTSW |
5 |
24,679,983 (GRCm39) |
missense |
probably benign |
0.43 |
R6798:Agap3
|
UTSW |
5 |
24,703,280 (GRCm39) |
splice site |
probably null |
|
R6802:Agap3
|
UTSW |
5 |
24,692,791 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6863:Agap3
|
UTSW |
5 |
24,657,462 (GRCm39) |
nonsense |
probably null |
|
R6863:Agap3
|
UTSW |
5 |
24,657,461 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7039:Agap3
|
UTSW |
5 |
24,688,399 (GRCm39) |
missense |
probably benign |
0.01 |
R7111:Agap3
|
UTSW |
5 |
24,706,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Agap3
|
UTSW |
5 |
24,657,382 (GRCm39) |
missense |
probably benign |
0.25 |
R7791:Agap3
|
UTSW |
5 |
24,681,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R8124:Agap3
|
UTSW |
5 |
24,683,128 (GRCm39) |
missense |
probably benign |
0.02 |
R8293:Agap3
|
UTSW |
5 |
24,692,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Agap3
|
UTSW |
5 |
24,679,629 (GRCm39) |
missense |
probably benign |
|
R9127:Agap3
|
UTSW |
5 |
24,681,439 (GRCm39) |
splice site |
probably benign |
|
R9694:Agap3
|
UTSW |
5 |
24,682,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGAGCTTAAAGTGGTGAGTG -3'
(R):5'- TGATTTCATCCTCCAGGCTGAACAC -3'
Sequencing Primer
(F):5'- CTTAAAGTGGTGAGTGGGTCCTG -3'
(R):5'- CTGATGGACTCGGACACTAGG -3'
|
Posted On |
2014-03-14 |