Incidental Mutation 'IGL00801:Ociad1'
| ID |
12826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ociad1
|
| Ensembl Gene |
ENSMUSG00000029152 |
| Gene Name |
OCIA domain containing 1 |
| Synonyms |
Asrij, 6030432N09Rik, Imi2, expressed during mesenchymal induction 2, Emi2, TPA018, B230209J16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL00801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
73450127-73471412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73461909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 87
(Y87N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031038]
[ENSMUST00000071081]
[ENSMUST00000166823]
[ENSMUST00000200935]
[ENSMUST00000201556]
[ENSMUST00000202250]
[ENSMUST00000202237]
[ENSMUST00000201739]
|
| AlphaFold |
Q9CRD0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031038
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: Y87N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
8e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071081
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069412
Gene: ENSMUSG00000029152
AA Change: Y87N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
3 |
112 |
8.3e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166823
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128805
Gene: ENSMUSG00000029152
AA Change: Y87N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
3 |
112 |
8.3e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200935
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144515
Gene: ENSMUSG00000029152
AA Change: Y87N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
4.6e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201272
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201556
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144227
Gene: ENSMUSG00000029152
AA Change: Y87N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
1.7e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202250
AA Change: Y87N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143799
Gene: ENSMUSG00000029152
AA Change: Y87N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
4.2e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202237
AA Change: Y33N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144102
Gene: ENSMUSG00000029152
AA Change: Y33N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
1 |
58 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201739
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
| Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
| Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
| B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
| Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
| Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
| Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
| Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
| Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
| Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
| Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
| Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
| Other mutations in Ociad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Ociad1
|
APN |
5 |
73,461,886 (GRCm39) |
splice site |
probably benign |
|
|
IGL02402:Ociad1
|
APN |
5 |
73,458,037 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03197:Ociad1
|
APN |
5 |
73,451,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Bequerel
|
UTSW |
5 |
73,467,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
Curie
|
UTSW |
5 |
73,467,688 (GRCm39) |
nonsense |
probably null |
|
|
R0420:Ociad1
|
UTSW |
5 |
73,470,772 (GRCm39) |
splice site |
probably null |
|
|
R0707:Ociad1
|
UTSW |
5 |
73,452,255 (GRCm39) |
splice site |
probably benign |
|
|
R1130:Ociad1
|
UTSW |
5 |
73,451,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1744:Ociad1
|
UTSW |
5 |
73,458,062 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2848:Ociad1
|
UTSW |
5 |
73,451,694 (GRCm39) |
splice site |
probably null |
|
|
R3157:Ociad1
|
UTSW |
5 |
73,467,688 (GRCm39) |
nonsense |
probably null |
|
|
R3159:Ociad1
|
UTSW |
5 |
73,467,688 (GRCm39) |
nonsense |
probably null |
|
|
R4686:Ociad1
|
UTSW |
5 |
73,464,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5002:Ociad1
|
UTSW |
5 |
73,467,659 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5398:Ociad1
|
UTSW |
5 |
73,467,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5483:Ociad1
|
UTSW |
5 |
73,452,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Ociad1
|
UTSW |
5 |
73,467,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7220:Ociad1
|
UTSW |
5 |
73,470,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7511:Ociad1
|
UTSW |
5 |
73,452,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Ociad1
|
UTSW |
5 |
73,452,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9053:Ociad1
|
UTSW |
5 |
73,460,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Ociad1
|
UTSW |
5 |
73,467,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation