Incidental Mutation 'R5002:Ociad1'
| ID |
389986 |
| 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 |
042596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73450127-73471412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73467659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 199
(V199A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031038]
[ENSMUST00000071081]
[ENSMUST00000166823]
[ENSMUST00000200935]
[ENSMUST00000201556]
[ENSMUST00000201739]
[ENSMUST00000202237]
[ENSMUST00000202250]
|
| AlphaFold |
Q9CRD0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031038
AA Change: V199A
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: V199A
| 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 benign
Transcript: ENSMUST00000202237
AA Change: V145A
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144102
Gene: ENSMUSG00000029152
AA Change: V145A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
94% (44/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
| Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
| Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
| Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
| Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
| Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
| Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
| Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
| Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
| Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
| Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
| Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
| Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
| Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
| Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
| Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
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 |
|
|
R3159:Ociad1
|
UTSW |
5 |
73,467,688 (GRCm39) |
nonsense |
probably null |
|
|
R4686:Ociad1
|
UTSW |
5 |
73,464,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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'- CGCCTCTAGTATCTTGGAATGGTAG -3'
(R):5'- TCAAATGTTGTGTGTTGCATCA -3'
Sequencing Primer
(F):5'- ATCTTGGAATGGTAGCAATAGTTTG -3'
(R):5'- CTAAACGCAGGTCATCAGGCTTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation