Incidental Mutation 'P0033:Orm3'
| ID |
7789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orm3
|
| Ensembl Gene |
ENSMUSG00000028359 |
| Gene Name |
orosomucoid 3 |
| Synonyms |
Orm-3, Agp-3 |
| MMRRC Submission |
038284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
P0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63274399-63277748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63274539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 35
(T35S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006687
AA Change: T35S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006687
Gene: ENSMUSG00000028359
AA Change: T35S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
40 |
180 |
4.8e-25 |
PFAM |
|
low complexity region
|
185 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118337
|
| Meta Mutation Damage Score |
0.4673 |
| Coding Region Coverage |
- 1x: 81.1%
- 3x: 72.9%
- 10x: 47.1%
- 20x: 23.7%
|
| Validation Efficiency |
86% (108/125) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Depdc1a |
T |
C |
3: 159,221,778 (GRCm39) |
S241P |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,447,729 (GRCm39) |
M1K |
probably null |
Het |
| Egfem1 |
G |
C |
3: 29,744,340 (GRCm39) |
Q526H |
probably damaging |
Het |
| Gm10856 |
C |
A |
15: 79,730,023 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
A |
G |
7: 105,026,712 (GRCm39) |
Y160C |
probably damaging |
Het |
| Hmg20a |
A |
G |
9: 56,397,108 (GRCm39) |
S303G |
probably benign |
Het |
| Lmbrd1 |
A |
G |
1: 24,724,646 (GRCm39) |
T77A |
possibly damaging |
Het |
| Map3k5 |
C |
T |
10: 20,007,959 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,255 (GRCm39) |
V696I |
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,353,222 (GRCm39) |
E1004G |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,645,253 (GRCm39) |
V1067A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,047,091 (GRCm39) |
R392* |
probably null |
Het |
| Rad54b |
T |
A |
4: 11,609,285 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 71,967,675 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,668,089 (GRCm39) |
N134S |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,616,819 (GRCm39) |
P421L |
possibly damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,141,345 (GRCm39) |
I1129F |
probably damaging |
Het |
| Spats2l |
G |
A |
1: 57,924,997 (GRCm39) |
E132K |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,652,586 (GRCm39) |
T691S |
probably benign |
Het |
| Usp38 |
C |
T |
8: 81,708,525 (GRCm39) |
D1018N |
probably benign |
Het |
| Zcchc14 |
A |
C |
8: 122,336,898 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Orm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01972:Orm3
|
APN |
4 |
63,277,563 (GRCm39) |
missense |
probably benign |
|
|
R0070:Orm3
|
UTSW |
4 |
63,274,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0398:Orm3
|
UTSW |
4 |
63,275,885 (GRCm39) |
missense |
probably benign |
|
|
R1169:Orm3
|
UTSW |
4 |
63,276,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1551:Orm3
|
UTSW |
4 |
63,275,146 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3975:Orm3
|
UTSW |
4 |
63,274,395 (GRCm39) |
splice site |
probably null |
|
|
R6767:Orm3
|
UTSW |
4 |
63,274,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Orm3
|
UTSW |
4 |
63,275,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7128:Orm3
|
UTSW |
4 |
63,276,062 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7708:Orm3
|
UTSW |
4 |
63,276,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Orm3
|
UTSW |
4 |
63,277,594 (GRCm39) |
missense |
probably benign |
|
|
R8401:Orm3
|
UTSW |
4 |
63,274,467 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9039:Orm3
|
UTSW |
4 |
63,274,533 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9164:Orm3
|
UTSW |
4 |
63,274,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9333:Orm3
|
UTSW |
4 |
63,274,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Orm3
|
UTSW |
4 |
63,274,935 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2012-10-29 |
Incidental Mutation