Incidental Mutation 'IGL01972:Orm3'
| ID |
181667 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Orm3
|
| Ensembl Gene |
ENSMUSG00000028359 |
| Gene Name |
orosomucoid 3 |
| Synonyms |
Orm-3, Agp-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63274399-63277748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63277563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 184
(S184G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006687]
[ENSMUST00000075341]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006687
AA Change: S184G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006687
Gene: ENSMUSG00000028359
AA Change: S184G
| 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 |
probably benign
Transcript: ENSMUST00000075341
|
| SMART Domains |
Protein: ENSMUSP00000074810
Gene: ENSMUSG00000061540
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
41 |
181 |
1.5e-23 |
PFAM |
|
low complexity region
|
186 |
200 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahr |
T |
G |
12: 35,554,448 (GRCm39) |
D557A |
possibly damaging |
Het |
| Akap11 |
T |
C |
14: 78,745,297 (GRCm39) |
Q1697R |
probably damaging |
Het |
| Alpi |
T |
A |
1: 87,027,431 (GRCm39) |
T312S |
probably damaging |
Het |
| Cacna1b |
C |
A |
2: 24,525,107 (GRCm39) |
|
probably null |
Het |
| Car5a |
C |
T |
8: 122,653,821 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,450,883 (GRCm39) |
T841A |
possibly damaging |
Het |
| Eml6 |
A |
T |
11: 29,788,451 (GRCm39) |
F545I |
possibly damaging |
Het |
| Fam114a2 |
G |
A |
11: 57,400,220 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbxl21 |
C |
T |
13: 56,684,672 (GRCm39) |
R259* |
probably null |
Het |
| Fhip1b |
T |
C |
7: 105,039,352 (GRCm39) |
N5S |
probably damaging |
Het |
| Gm5117 |
C |
T |
8: 32,227,787 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
T |
C |
2: 34,873,784 (GRCm39) |
Y1650C |
probably damaging |
Het |
| Med12l |
C |
A |
3: 59,169,314 (GRCm39) |
T1568K |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,017,595 (GRCm39) |
K853E |
probably damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,417,739 (GRCm39) |
I150V |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,117 (GRCm39) |
F178S |
probably damaging |
Het |
| Or6n1 |
G |
T |
1: 173,916,987 (GRCm39) |
C127F |
probably damaging |
Het |
| Padi1 |
A |
G |
4: 140,546,170 (GRCm39) |
|
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,648,988 (GRCm39) |
T357A |
probably benign |
Het |
| Tmem17 |
A |
G |
11: 22,467,265 (GRCm39) |
S60G |
probably benign |
Het |
| Ubqlnl |
G |
T |
7: 103,798,904 (GRCm39) |
Q198K |
probably benign |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,586 (GRCm39) |
Y48* |
probably null |
Het |
| Zfp658 |
G |
A |
7: 43,222,134 (GRCm39) |
W136* |
probably null |
Het |
|
| Other mutations in Orm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0033:Orm3
|
UTSW |
4 |
63,274,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation