Incidental Mutation 'R3159:Ociad1'
| ID |
258056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ociad1
|
| Ensembl Gene |
ENSMUSG00000029152 |
| Gene Name |
OCIA domain containing 1 |
| Synonyms |
Asrij, 6030432N09Rik, Imi2, expressed during mesenchymal induction 2, Emi2, TPA018, B230209J16Rik |
| MMRRC Submission |
040610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
73450127-73471412 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 73467688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 155
(R155*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031038]
[ENSMUST00000071081]
[ENSMUST00000166823]
[ENSMUST00000200935]
[ENSMUST00000201556]
[ENSMUST00000201739]
[ENSMUST00000202237]
[ENSMUST00000202250]
|
| AlphaFold |
Q9CRD0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031038
AA Change: R209*
|
| SMART Domains |
Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: R209*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
8e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071081
|
| SMART Domains |
Protein: ENSMUSP00000069412
Gene: ENSMUSG00000029152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
3 |
112 |
8.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166823
|
| SMART Domains |
Protein: ENSMUSP00000128805
Gene: ENSMUSG00000029152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
3 |
112 |
8.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200935
|
| SMART Domains |
Protein: ENSMUSP00000144515
Gene: ENSMUSG00000029152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
4.6e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201272
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201556
|
| SMART Domains |
Protein: ENSMUSP00000144227
Gene: ENSMUSG00000029152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
1.7e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201739
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202237
AA Change: R155*
|
| SMART Domains |
Protein: ENSMUSP00000144102
Gene: ENSMUSG00000029152
AA Change: R155*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
1 |
58 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202250
|
| SMART Domains |
Protein: ENSMUSP00000143799
Gene: ENSMUSG00000029152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCIA
|
8 |
112 |
4.2e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
C |
3: 37,013,564 (GRCm39) |
V1931A |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cdk15 |
T |
C |
1: 59,340,440 (GRCm39) |
I313T |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,909 (GRCm39) |
V464A |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,155 (GRCm39) |
I178V |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,802,355 (GRCm39) |
V110I |
probably damaging |
Het |
| Hsd17b2 |
A |
C |
8: 118,485,491 (GRCm39) |
D318A |
probably damaging |
Het |
| Ighv8-6 |
A |
G |
12: 115,129,508 (GRCm39) |
S83P |
probably damaging |
Het |
| Isg20 |
C |
A |
7: 78,564,201 (GRCm39) |
A36E |
possibly damaging |
Het |
| Jade3 |
A |
G |
X: 20,345,783 (GRCm39) |
K54E |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,640,584 (GRCm39) |
Y505N |
probably damaging |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Or5t7 |
A |
G |
2: 86,506,855 (GRCm39) |
I274T |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,250 (GRCm39) |
T627I |
probably damaging |
Het |
| Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,105 (GRCm39) |
V33D |
possibly damaging |
Het |
| Rfx6 |
A |
T |
10: 51,602,816 (GRCm39) |
R778W |
probably damaging |
Het |
| Sav1 |
A |
T |
12: 70,031,326 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,635,611 (GRCm39) |
N328K |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,592,812 (GRCm39) |
Y1214H |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,105,760 (GRCm39) |
W332R |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trav4-4-dv10 |
A |
T |
14: 53,921,559 (GRCm39) |
K86* |
probably null |
Het |
| Zfp667 |
T |
C |
7: 6,308,999 (GRCm39) |
C556R |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,900,686 (GRCm39) |
I713T |
probably benign |
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 |
|
|
IGL00801:Ociad1
|
APN |
5 |
73,461,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCTAGTATCTTGGAATGGT -3'
(R):5'- TCAAATGTTGTGTGTTGCATCA -3'
Sequencing Primer
(F):5'- ATCTTGGAATGGTAGCAATAGTTTG -3'
(R):5'- CTAAACGCAGGTCATCAGGCTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation