Incidental Mutation 'IGL00670:Aff2'
| ID |
8641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aff2
|
| Ensembl Gene |
ENSMUSG00000031189 |
| Gene Name |
AF4/FMR2 family, member 2 |
| Synonyms |
Ox19, Fmr2, Oxh |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
IGL00670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
68403900-68911643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68588199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 122
(M122K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033532]
|
| AlphaFold |
O55112 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033532
AA Change: M122K
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033532
Gene: ENSMUSG00000031189
AA Change: M122K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
18 |
372 |
2.3e-108 |
PFAM |
|
Pfam:AF-4
|
363 |
1269 |
3.4e-265 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143097
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired conditioned fear responses and enhanced long-term potentiation in hippocampal slices. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,633,007 (GRCm39) |
L245Q |
probably damaging |
Het |
| Abcd3 |
A |
T |
3: 121,569,333 (GRCm39) |
V333D |
probably damaging |
Het |
| Car10 |
C |
T |
11: 93,195,483 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
T |
A |
15: 82,675,942 (GRCm39) |
M257L |
probably benign |
Het |
| Cyp2j5 |
T |
G |
4: 96,522,512 (GRCm39) |
D354A |
probably benign |
Het |
| Fam228b |
T |
C |
12: 4,814,081 (GRCm39) |
K59E |
probably damaging |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,383 (GRCm39) |
D346G |
probably benign |
Het |
| Med14 |
G |
A |
X: 12,620,428 (GRCm39) |
A95V |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,482 (GRCm39) |
L155P |
probably damaging |
Het |
| Mrps31 |
A |
G |
8: 22,919,206 (GRCm39) |
D312G |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,059 (GRCm39) |
N618K |
probably benign |
Het |
| Prb1a |
A |
T |
6: 132,184,109 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 75,999,567 (GRCm39) |
I210F |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,241 (GRCm39) |
I522N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,657,335 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Aff2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01373:Aff2
|
APN |
X |
68,911,335 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02253:Aff2
|
APN |
X |
68,874,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02614:Aff2
|
APN |
X |
68,907,693 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03116:Aff2
|
APN |
X |
68,878,092 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03184:Aff2
|
APN |
X |
68,810,840 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
H8562:Aff2
|
UTSW |
X |
68,892,532 (GRCm39) |
missense |
unknown |
|
|
LCD18:Aff2
|
UTSW |
X |
68,791,141 (GRCm39) |
intron |
probably benign |
|
|
R0190:Aff2
|
UTSW |
X |
68,892,711 (GRCm39) |
frame shift |
probably null |
|
|
R0481:Aff2
|
UTSW |
X |
68,878,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Aff2
|
UTSW |
X |
68,907,680 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2253:Aff2
|
UTSW |
X |
68,878,409 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3236:Aff2
|
UTSW |
X |
68,907,543 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3237:Aff2
|
UTSW |
X |
68,907,543 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2012-12-06 |
Incidental Mutation