Incidental Mutation 'R5398:Ociad1'
| ID |
429794 |
| 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 |
042969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73450127-73471412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73467755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 231
(V231E)
|
| 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 |
probably benign
Transcript: ENSMUST00000031038
AA Change: V231E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: V231E
| 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: V177E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144102
Gene: ENSMUSG00000029152
AA Change: V177E
| 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 |
0.0625 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
95% (59/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,362,595 (GRCm39) |
L34P |
possibly damaging |
Het |
| Adam34 |
A |
C |
8: 44,104,278 (GRCm39) |
C456G |
probably damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,365,533 (GRCm39) |
D407G |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Chac1 |
T |
G |
2: 119,183,725 (GRCm39) |
L109R |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,232,820 (GRCm39) |
D709G |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,115,724 (GRCm39) |
D112E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,293,872 (GRCm39) |
K1326E |
probably benign |
Het |
| Dnajc3 |
T |
A |
14: 119,209,799 (GRCm39) |
Y291* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,712,190 (GRCm39) |
F109L |
probably benign |
Het |
| Egfl8 |
T |
C |
17: 34,833,613 (GRCm39) |
|
probably benign |
Het |
| Emb |
T |
A |
13: 117,404,088 (GRCm39) |
I280N |
probably damaging |
Het |
| Gcc2 |
C |
A |
10: 58,105,329 (GRCm39) |
N188K |
probably benign |
Het |
| Gdpd4 |
A |
T |
7: 97,621,185 (GRCm39) |
H166L |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Itga11 |
A |
G |
9: 62,653,205 (GRCm39) |
T360A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,322 (GRCm39) |
S434P |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif24 |
T |
C |
4: 41,394,401 (GRCm39) |
E824G |
possibly damaging |
Het |
| Lekr1 |
T |
A |
3: 65,688,807 (GRCm39) |
|
noncoding transcript |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
C |
A |
2: 37,091,330 (GRCm39) |
Q26K |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,207 (GRCm39) |
L386P |
probably damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,687 (GRCm39) |
K255E |
possibly damaging |
Het |
| Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,922,786 (GRCm39) |
M235T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,894,057 (GRCm39) |
I171F |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,512 (GRCm39) |
Y451C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,424,998 (GRCm39) |
Y453N |
probably damaging |
Het |
| Rgs16 |
C |
T |
1: 153,616,246 (GRCm39) |
T11I |
probably benign |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,318,387 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,536,304 (GRCm39) |
T294A |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,730,936 (GRCm39) |
I61N |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spink12 |
A |
G |
18: 44,240,794 (GRCm39) |
D60G |
possibly damaging |
Het |
| Sppl2a |
T |
C |
2: 126,761,638 (GRCm39) |
I289V |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,055,443 (GRCm39) |
T176A |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,379,145 (GRCm39) |
L91S |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,910 (GRCm39) |
I538T |
probably benign |
Het |
| Tcte1 |
C |
T |
17: 45,850,752 (GRCm39) |
Q343* |
probably null |
Het |
| Tdpoz2 |
T |
G |
3: 93,559,441 (GRCm39) |
D177A |
probably damaging |
Het |
| Thada |
T |
G |
17: 84,733,614 (GRCm39) |
D1011A |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,975,092 (GRCm39) |
M112L |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,835,447 (GRCm39) |
E325G |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,998 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
C |
A |
17: 22,792,252 (GRCm39) |
M1I |
probably null |
Het |
| Wdr11 |
C |
T |
7: 129,232,956 (GRCm39) |
T996M |
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 |
|
|
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 |
|
R5002:Ociad1
|
UTSW |
5 |
73,467,659 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- ACGCCTCTAGTATCTTGGAATGGTAG -3'
(R):5'- TCAAATGTTGTGTGTTGCATCA -3'
Sequencing Primer
(F):5'- ATCTTGGAATGGTAGCAATAGTTTG -3'
(R):5'- CTAAACGCAGGTCATCAGGCTTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation