Incidental Mutation 'R3157:Ociad1'
ID |
263536 |
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 |
040608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R3157 (G1)
|
Quality Score |
225 |
Status
|
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: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
T |
13: 8,747,669 (GRCm39) |
K408N |
probably benign |
Het |
Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
Ap1g2 |
A |
T |
14: 55,336,731 (GRCm39) |
I747N |
probably damaging |
Het |
Arhgap27 |
T |
A |
11: 103,224,663 (GRCm39) |
|
probably null |
Het |
Bmp1 |
G |
T |
14: 70,729,547 (GRCm39) |
N541K |
possibly damaging |
Het |
Cacna1c |
T |
A |
6: 118,728,485 (GRCm39) |
T320S |
probably benign |
Het |
Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
D630003M21Rik |
A |
C |
2: 158,037,392 (GRCm39) |
|
probably benign |
Het |
Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,127,195 (GRCm39) |
Y1058H |
probably benign |
Het |
Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,474,901 (GRCm39) |
T4A |
probably damaging |
Het |
Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,290,267 (GRCm39) |
N2367D |
probably damaging |
Het |
Hydin |
A |
G |
8: 110,994,005 (GRCm39) |
K13R |
unknown |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcns1 |
G |
A |
2: 164,006,865 (GRCm39) |
A366V |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
Klrb1c |
G |
T |
6: 128,761,702 (GRCm39) |
T134K |
possibly damaging |
Het |
Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
Mgat4d |
T |
C |
8: 84,081,450 (GRCm39) |
Y68H |
probably benign |
Het |
Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
A |
5: 45,833,400 (GRCm39) |
D295E |
probably benign |
Het |
Npas2 |
C |
T |
1: 39,386,690 (GRCm39) |
T653M |
possibly damaging |
Het |
Nps |
A |
G |
7: 134,873,989 (GRCm39) |
D53G |
probably benign |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,073,145 (GRCm39) |
T259A |
probably damaging |
Het |
Pced1a |
A |
G |
2: 130,261,687 (GRCm39) |
M322T |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,028,475 (GRCm39) |
|
probably benign |
Het |
Pigg |
C |
T |
5: 108,462,014 (GRCm39) |
T115I |
probably damaging |
Het |
Plcd4 |
G |
A |
1: 74,590,313 (GRCm39) |
|
probably null |
Het |
Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 156,986,225 (GRCm39) |
|
probably benign |
Het |
Rec8 |
A |
G |
14: 55,862,763 (GRCm39) |
E574G |
probably damaging |
Het |
Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
Slc16a8 |
T |
C |
15: 79,136,375 (GRCm39) |
I276V |
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 |
Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
Synpr |
C |
T |
14: 13,493,614 (GRCm38) |
A64V |
possibly damaging |
Het |
Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
Tpt1 |
G |
A |
14: 76,083,840 (GRCm39) |
|
probably benign |
Het |
Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
Ttll4 |
T |
C |
1: 74,736,770 (GRCm39) |
L1165P |
possibly 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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCTAGTATCTTGGAATGGTAGCAA -3'
(R):5'- TCAAATGTTGTGTGTTGCATCA -3'
Sequencing Primer
(F):5'- ATCTTGGAATGGTAGCAATAGTTTG -3'
(R):5'- CTAAACGCAGGTCATCAGGCTTG -3'
|
Posted On |
2015-02-05 |