Incidental Mutation 'IGL01477:Aven'
| ID |
88502 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aven
|
| Ensembl Gene |
ENSMUSG00000003604 |
| Gene Name |
apoptosis, caspase activation inhibitor |
| Synonyms |
mAven-L, 1700056A21Rik, 1700013A01Rik, mAven-S |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
112323231-112461598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112460277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 132
(S132P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003705]
[ENSMUST00000080673]
[ENSMUST00000091818]
[ENSMUST00000099588]
[ENSMUST00000134358]
[ENSMUST00000208151]
[ENSMUST00000208290]
|
| AlphaFold |
Q9D9K3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003705
AA Change: S257P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000003705
Gene: ENSMUSG00000003604
AA Change: S257P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080673
|
| SMART Domains |
Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
99 |
N/A |
INTRINSIC |
|
MIR
|
100 |
155 |
3.27e-4 |
SMART |
|
MIR
|
162 |
207 |
7.52e-4 |
SMART |
|
MIR
|
215 |
269 |
8.06e-4 |
SMART |
|
MIR
|
275 |
368 |
8.4e-25 |
SMART |
|
Pfam:RYDR_ITPR
|
438 |
642 |
1.1e-71 |
PFAM |
|
SPRY
|
657 |
795 |
1.16e-24 |
SMART |
|
Pfam:RyR
|
848 |
942 |
1.5e-34 |
PFAM |
|
Pfam:RyR
|
962 |
1056 |
1.2e-32 |
PFAM |
|
SPRY
|
1084 |
1207 |
7.99e-37 |
SMART |
|
SPRY
|
1325 |
1465 |
6.25e-30 |
SMART |
|
low complexity region
|
1757 |
1772 |
N/A |
INTRINSIC |
|
low complexity region
|
1773 |
1788 |
N/A |
INTRINSIC |
|
low complexity region
|
1932 |
1957 |
N/A |
INTRINSIC |
|
Pfam:RYDR_ITPR
|
2018 |
2228 |
1.8e-59 |
PFAM |
|
Pfam:RyR
|
2595 |
2689 |
1.2e-36 |
PFAM |
|
Pfam:RyR
|
2713 |
2801 |
2.1e-31 |
PFAM |
|
low complexity region
|
2877 |
2887 |
N/A |
INTRINSIC |
|
low complexity region
|
3169 |
3184 |
N/A |
INTRINSIC |
|
low complexity region
|
3327 |
3338 |
N/A |
INTRINSIC |
|
PDB:2BCX|B
|
3462 |
3491 |
9e-12 |
PDB |
|
low complexity region
|
3532 |
3540 |
N/A |
INTRINSIC |
|
coiled coil region
|
3585 |
3614 |
N/A |
INTRINSIC |
|
Pfam:RIH_assoc
|
3715 |
3848 |
4.9e-40 |
PFAM |
|
low complexity region
|
3855 |
3875 |
N/A |
INTRINSIC |
|
SCOP:d1sra__
|
3893 |
3989 |
1e-10 |
SMART |
|
low complexity region
|
4096 |
4134 |
N/A |
INTRINSIC |
|
transmembrane domain
|
4178 |
4200 |
N/A |
INTRINSIC |
|
Pfam:RR_TM4-6
|
4227 |
4497 |
4.7e-96 |
PFAM |
|
Pfam:Ion_trans
|
4599 |
4762 |
2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091818
|
| SMART Domains |
Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
110 |
119 |
N/A |
INTRINSIC |
|
MIR
|
120 |
175 |
3.27e-4 |
SMART |
|
MIR
|
182 |
227 |
7.52e-4 |
SMART |
|
MIR
|
235 |
289 |
8.06e-4 |
SMART |
|
MIR
|
295 |
388 |
8.4e-25 |
SMART |
|
Pfam:RYDR_ITPR
|
460 |
655 |
1.2e-64 |
PFAM |
|
SPRY
|
677 |
815 |
1.16e-24 |
SMART |
|
Pfam:RyR
|
869 |
959 |
3.3e-38 |
PFAM |
|
Pfam:RyR
|
983 |
1073 |
2.5e-32 |
PFAM |
|
SPRY
|
1104 |
1227 |
7.99e-37 |
SMART |
|
SPRY
|
1345 |
1485 |
6.25e-30 |
SMART |
|
low complexity region
|
1777 |
1792 |
N/A |
INTRINSIC |
|
low complexity region
|
1793 |
1808 |
N/A |
INTRINSIC |
|
low complexity region
|
1952 |
1977 |
N/A |
INTRINSIC |
|
Pfam:RYDR_ITPR
|
2040 |
2248 |
5.8e-67 |
PFAM |
|
Pfam:RyR
|
2616 |
2706 |
6.3e-33 |
PFAM |
|
Pfam:RyR
|
2734 |
2818 |
6.6e-26 |
PFAM |
|
low complexity region
|
2897 |
2907 |
N/A |
INTRINSIC |
|
low complexity region
|
3189 |
3204 |
N/A |
INTRINSIC |
|
PDB:2BCX|B
|
3487 |
3516 |
1e-11 |
PDB |
|
low complexity region
|
3557 |
3565 |
N/A |
INTRINSIC |
|
coiled coil region
|
3610 |
3639 |
N/A |
INTRINSIC |
|
Pfam:RIH_assoc
|
3744 |
3862 |
3.5e-34 |
PFAM |
|
low complexity region
|
3880 |
3900 |
N/A |
INTRINSIC |
|
SCOP:d1sra__
|
3918 |
4014 |
1e-10 |
SMART |
|
low complexity region
|
4121 |
4159 |
N/A |
INTRINSIC |
|
transmembrane domain
|
4203 |
4225 |
N/A |
INTRINSIC |
|
Pfam:RR_TM4-6
|
4252 |
4522 |
1.1e-98 |
PFAM |
|
Pfam:Ion_trans
|
4625 |
4799 |
6.2e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099588
AA Change: S132P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000097184
Gene: ENSMUSG00000003604
AA Change: S132P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
135 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134358
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208290
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele exhibit increased cell death in response to various apoptotic stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
G |
19: 45,967,043 (GRCm39) |
F33S |
probably damaging |
Het |
| Cadps2 |
G |
A |
6: 23,263,672 (GRCm39) |
T1233M |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,140 (GRCm39) |
E383G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,352,985 (GRCm39) |
K432E |
possibly damaging |
Het |
| Elapor2 |
A |
T |
5: 9,487,756 (GRCm39) |
K547N |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,143,572 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,667,954 (GRCm39) |
D74G |
possibly damaging |
Het |
| Glb1l |
A |
T |
1: 75,185,350 (GRCm39) |
I120N |
probably damaging |
Het |
| Grpel1 |
G |
A |
5: 36,627,986 (GRCm39) |
R89Q |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,451,635 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,379,683 (GRCm39) |
H195R |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,643 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or8c17 |
T |
A |
9: 38,180,615 (GRCm39) |
S269T |
possibly damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,020,015 (GRCm39) |
K1346I |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,512,044 (GRCm39) |
V1421I |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,441 (GRCm39) |
D331G |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,345 (GRCm39) |
N856K |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,806 (GRCm39) |
D542G |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,635,154 (GRCm39) |
|
probably benign |
Het |
| Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,368,541 (GRCm39) |
N697S |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,016,689 (GRCm39) |
H731R |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,502,283 (GRCm39) |
H68R |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,691 (GRCm39) |
C354G |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,370,675 (GRCm39) |
Y425N |
probably benign |
Het |
|
| Other mutations in Aven |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Aven
|
APN |
2 |
112,460,130 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Trifle
|
UTSW |
2 |
112,458,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1556:Aven
|
UTSW |
2 |
112,461,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2124:Aven
|
UTSW |
2 |
112,455,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4232:Aven
|
UTSW |
2 |
112,458,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5630:Aven
|
UTSW |
2 |
112,344,890 (GRCm39) |
nonsense |
probably null |
|
|
R7217:Aven
|
UTSW |
2 |
112,461,191 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8196:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R8198:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R8199:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R8211:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R8236:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R8239:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R8279:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R8283:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R9542:Aven
|
UTSW |
2 |
112,455,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation