Incidental Mutation 'R0033:Agr3'
| ID |
15287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agr3
|
| Ensembl Gene |
ENSMUSG00000036231 |
| Gene Name |
anterior gradient 3 |
| Synonyms |
E030025L21Rik, LOC380754 |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
35975620-35999736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35978329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 14
(T14M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042101]
[ENSMUST00000154042]
|
| AlphaFold |
Q8R3W7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042101
AA Change: T14M
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049212
Gene: ENSMUSG00000036231
AA Change: T14M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredox_DsbH
|
21 |
115 |
9.8e-10 |
PFAM |
|
Pfam:Thioredoxin_7
|
42 |
123 |
3.9e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154042
AA Change: T14M
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
Het |
|
| Other mutations in Agr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02902:Agr3
|
APN |
12 |
35,996,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0031:Agr3
|
UTSW |
12 |
35,997,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Agr3
|
UTSW |
12 |
35,978,329 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0546:Agr3
|
UTSW |
12 |
35,978,329 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0963:Agr3
|
UTSW |
12 |
35,984,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1498:Agr3
|
UTSW |
12 |
35,984,379 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1619:Agr3
|
UTSW |
12 |
35,997,858 (GRCm39) |
splice site |
probably null |
|
|
R3945:Agr3
|
UTSW |
12 |
35,997,512 (GRCm39) |
splice site |
probably benign |
|
|
R3946:Agr3
|
UTSW |
12 |
35,997,512 (GRCm39) |
splice site |
probably benign |
|
|
R4678:Agr3
|
UTSW |
12 |
35,997,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Agr3
|
UTSW |
12 |
35,997,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5750:Agr3
|
UTSW |
12 |
35,996,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6748:Agr3
|
UTSW |
12 |
35,997,594 (GRCm39) |
splice site |
probably null |
|
|
R8092:Agr3
|
UTSW |
12 |
35,997,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9568:Agr3
|
UTSW |
12 |
35,998,349 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-17 |
Incidental Mutation