Incidental Mutation 'IGL00863:Cyria'
| ID |
10660 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyria
|
| Ensembl Gene |
ENSMUSG00000020589 |
| Gene Name |
CYFIP related Rac1 interactor A |
| Synonyms |
Fam49a, D12Ertd553e, 2410157M17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.564)
|
| Stock # |
IGL00863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
12312140-12430966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12409235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 72
(I72F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069005]
[ENSMUST00000069066]
[ENSMUST00000223061]
|
| AlphaFold |
Q8BHZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069005
AA Change: I72F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: I72F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1394
|
17 |
319 |
2.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069066
AA Change: I72F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: I72F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1394
|
15 |
319 |
1.9e-180 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223061
AA Change: I72F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
| Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
| Ccdc192 |
A |
T |
18: 57,727,158 (GRCm39) |
E136V |
probably damaging |
Het |
| Ccny |
A |
T |
18: 9,345,444 (GRCm39) |
D143E |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
| Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,487,470 (GRCm39) |
Y148* |
probably null |
Het |
| Jmjd4 |
T |
C |
11: 59,341,569 (GRCm39) |
S113P |
probably benign |
Het |
| Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
| Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,571 (GRCm39) |
E169G |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,380 (GRCm39) |
T226S |
probably benign |
Het |
| Tvp23b |
C |
A |
11: 62,774,464 (GRCm39) |
A36E |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
| Other mutations in Cyria |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Cyria
|
APN |
12 |
12,411,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02313:Cyria
|
APN |
12 |
12,414,752 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0129:Cyria
|
UTSW |
12 |
12,412,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1807:Cyria
|
UTSW |
12 |
12,411,505 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2017:Cyria
|
UTSW |
12 |
12,412,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3893:Cyria
|
UTSW |
12 |
12,412,526 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5816:Cyria
|
UTSW |
12 |
12,408,166 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7169:Cyria
|
UTSW |
12 |
12,409,233 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7363:Cyria
|
UTSW |
12 |
12,390,665 (GRCm39) |
splice site |
probably null |
|
|
R7522:Cyria
|
UTSW |
12 |
12,408,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7877:Cyria
|
UTSW |
12 |
12,414,798 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8061:Cyria
|
UTSW |
12 |
12,412,028 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9048:Cyria
|
UTSW |
12 |
12,412,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9490:Cyria
|
UTSW |
12 |
12,390,727 (GRCm39) |
missense |
probably benign |
|
|
RF015:Cyria
|
UTSW |
12 |
12,419,939 (GRCm39) |
missense |
probably benign |
|
|
X0017:Cyria
|
UTSW |
12 |
12,412,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation