Incidental Mutation 'R8279:Aven'
| ID |
638101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aven
|
| Ensembl Gene |
ENSMUSG00000003604 |
| Gene Name |
apoptosis, caspase activation inhibitor |
| Synonyms |
mAven-L, 1700056A21Rik, 1700013A01Rik, mAven-S |
| MMRRC Submission |
067702-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
112323231-112461598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112390120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 8
(R8W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003705]
[ENSMUST00000099588]
|
| AlphaFold |
Q9D9K3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003705
|
| SMART Domains |
Protein: ENSMUSP00000003705
Gene: ENSMUSG00000003604
| 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: ENSMUST00000099588
AA Change: R8W
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097184
Gene: ENSMUSG00000003604
AA Change: R8W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
135 |
148 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,069,549 (GRCm39) |
N1282S |
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,723,653 (GRCm39) |
H683R |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,726,820 (GRCm39) |
D825N |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| C3 |
A |
G |
17: 57,522,809 (GRCm39) |
V1025A |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,487 (GRCm39) |
S1489P |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,316,125 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
C |
7: 101,355,695 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cpa3 |
C |
T |
3: 20,277,478 (GRCm39) |
M232I |
possibly damaging |
Het |
| Cyp2j7 |
A |
G |
4: 96,116,796 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,366,399 (GRCm39) |
I1907T |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,871,795 (GRCm39) |
F437L |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,483,384 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,419,726 (GRCm39) |
T599S |
|
Het |
| Gm10142 |
T |
A |
10: 77,552,001 (GRCm39) |
*121R |
probably null |
Het |
| Kcng3 |
A |
C |
17: 83,895,254 (GRCm39) |
F404C |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,533,086 (GRCm39) |
H395P |
unknown |
Het |
| Mrc1 |
T |
A |
2: 14,271,168 (GRCm39) |
D357E |
possibly damaging |
Het |
| Muc15 |
A |
G |
2: 110,562,052 (GRCm39) |
T163A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,644,199 (GRCm39) |
T208A |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,794,557 (GRCm39) |
I51F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdpk1 |
A |
G |
17: 24,307,147 (GRCm39) |
S395P |
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,705,251 (GRCm39) |
V211A |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Slfn4 |
T |
G |
11: 83,077,482 (GRCm39) |
M90R |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,054,955 (GRCm39) |
D68G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,371 (GRCm39) |
T70A |
possibly damaging |
Het |
| Taf1c |
C |
T |
8: 120,325,750 (GRCm39) |
R704Q |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,765 (GRCm39) |
D398E |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,416,709 (GRCm39) |
V9E |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,345,722 (GRCm39) |
M109K |
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 |
|
IGL01477:Aven
|
APN |
2 |
112,460,277 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
|
R8283:Aven
|
UTSW |
2 |
112,390,120 (GRCm39) |
missense |
probably benign |
|
|
R9542:Aven
|
UTSW |
2 |
112,455,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGCCATGAGATTGGAG -3'
(R):5'- TCAAATGAAACATGAGTGTGGC -3'
Sequencing Primer
(F):5'- CCCCAGGTGAGGACCATGTAAG -3'
(R):5'- GTGTGGCTCAGAAATTCTCCAGAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation