Incidental Mutation 'R1073:Asap3'
| ID |
85519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asap3
|
| Ensembl Gene |
ENSMUSG00000036995 |
| Gene Name |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 |
| Synonyms |
Ddefl1, UPLC1, 9430088F20Rik |
| MMRRC Submission |
039159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R1073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135933676-135972527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135963742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 334
(I334T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047526]
|
| AlphaFold |
Q5U464 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047526
AA Change: I334T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041899
Gene: ENSMUSG00000036995
AA Change: I334T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
29 |
N/A |
INTRINSIC |
|
Pfam:BAR_3
|
32 |
264 |
5.5e-20 |
PFAM |
|
PH
|
303 |
396 |
5.61e-17 |
SMART |
|
ArfGap
|
425 |
547 |
8.33e-31 |
SMART |
|
ANK
|
584 |
616 |
4.86e1 |
SMART |
|
ANK
|
620 |
649 |
3.06e-5 |
SMART |
|
low complexity region
|
794 |
806 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2975 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
| Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
| Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
| Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
| Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Asap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Asap3
|
APN |
4 |
135,933,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01865:Asap3
|
APN |
4 |
135,963,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02045:Asap3
|
APN |
4 |
135,954,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02105:Asap3
|
APN |
4 |
135,955,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02135:Asap3
|
APN |
4 |
135,968,464 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02484:Asap3
|
APN |
4 |
135,956,768 (GRCm39) |
splice site |
probably benign |
|
|
IGL02524:Asap3
|
APN |
4 |
135,965,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Asap3
|
APN |
4 |
135,966,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0128:Asap3
|
UTSW |
4 |
135,961,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0883:Asap3
|
UTSW |
4 |
135,961,636 (GRCm39) |
splice site |
probably benign |
|
|
R0903:Asap3
|
UTSW |
4 |
135,965,687 (GRCm39) |
missense |
probably benign |
|
|
R1498:Asap3
|
UTSW |
4 |
135,966,505 (GRCm39) |
missense |
probably benign |
|
|
R1951:Asap3
|
UTSW |
4 |
135,954,767 (GRCm39) |
nonsense |
probably null |
|
|
R1953:Asap3
|
UTSW |
4 |
135,954,767 (GRCm39) |
nonsense |
probably null |
|
|
R3703:Asap3
|
UTSW |
4 |
135,968,552 (GRCm39) |
small insertion |
probably benign |
|
|
R3704:Asap3
|
UTSW |
4 |
135,968,552 (GRCm39) |
small insertion |
probably benign |
|
|
R3705:Asap3
|
UTSW |
4 |
135,968,552 (GRCm39) |
small insertion |
probably benign |
|
|
R3754:Asap3
|
UTSW |
4 |
135,956,766 (GRCm39) |
splice site |
probably null |
|
|
R3773:Asap3
|
UTSW |
4 |
135,954,886 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3911:Asap3
|
UTSW |
4 |
135,956,768 (GRCm39) |
splice site |
probably benign |
|
|
R4570:Asap3
|
UTSW |
4 |
135,967,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4879:Asap3
|
UTSW |
4 |
135,969,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5394:Asap3
|
UTSW |
4 |
135,968,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5497:Asap3
|
UTSW |
4 |
135,966,533 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5914:Asap3
|
UTSW |
4 |
135,968,720 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6208:Asap3
|
UTSW |
4 |
135,968,508 (GRCm39) |
missense |
probably benign |
|
|
R6214:Asap3
|
UTSW |
4 |
135,968,736 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6495:Asap3
|
UTSW |
4 |
135,955,790 (GRCm39) |
splice site |
probably null |
|
|
R6577:Asap3
|
UTSW |
4 |
135,965,541 (GRCm39) |
splice site |
probably null |
|
|
R6823:Asap3
|
UTSW |
4 |
135,954,883 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7067:Asap3
|
UTSW |
4 |
135,968,673 (GRCm39) |
splice site |
probably null |
|
|
R7081:Asap3
|
UTSW |
4 |
135,968,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7471:Asap3
|
UTSW |
4 |
135,960,957 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8035:Asap3
|
UTSW |
4 |
135,968,514 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8398:Asap3
|
UTSW |
4 |
135,961,704 (GRCm39) |
missense |
probably benign |
|
|
R8695:Asap3
|
UTSW |
4 |
135,965,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8921:Asap3
|
UTSW |
4 |
135,963,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9021:Asap3
|
UTSW |
4 |
135,966,299 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9790:Asap3
|
UTSW |
4 |
135,961,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9791:Asap3
|
UTSW |
4 |
135,961,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Asap3
|
UTSW |
4 |
135,968,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Asap3
|
UTSW |
4 |
135,967,512 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCATCAGGCTCGAAGTGCTCAG -3'
(R):5'- TCACCAGGTCGAAACACCTTTTCTC -3'
Sequencing Primer
(F):5'- AATTCTAAGCATGAGGCTTGGC -3'
(R):5'- TCAGCAAGGGCAGCTTCAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation