Incidental Mutation 'IGL00504:Cela3b'
| ID |
9592 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cela3b
|
| Ensembl Gene |
ENSMUSG00000023433 |
| Gene Name |
chymotrypsin-like elastase family, member 3B |
| Synonyms |
Ela3b, 0910001F22Rik, 2310074F01Rik, Ela3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL00504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
137148319-137157831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137150592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 202
(V202E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102522]
|
| AlphaFold |
Q9CQ52 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102522
AA Change: V202E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099581
Gene: ENSMUSG00000023433
AA Change: V202E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
27 |
262 |
8.81e-94 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134565
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atpaf2 |
T |
C |
11: 60,296,629 (GRCm39) |
D168G |
probably damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,202,034 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,024,338 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
G |
7: 86,383,351 (GRCm39) |
R465S |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,714 (GRCm39) |
Q214L |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,026 (GRCm39) |
|
probably null |
Het |
| Lmln |
A |
G |
16: 32,903,435 (GRCm39) |
N283S |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,981,352 (GRCm39) |
N508S |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,467,518 (GRCm39) |
G1419C |
probably benign |
Het |
| Pafah1b3 |
T |
A |
7: 24,995,614 (GRCm39) |
T115S |
probably benign |
Het |
| Pcdhb5 |
C |
A |
18: 37,455,162 (GRCm39) |
A514E |
probably damaging |
Het |
| Prl8a8 |
G |
T |
13: 27,693,593 (GRCm39) |
T144K |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,136,272 (GRCm39) |
K105* |
probably null |
Het |
| Rin1 |
T |
C |
19: 5,102,438 (GRCm39) |
S316P |
probably benign |
Het |
| Serpinb3b |
A |
T |
1: 107,085,411 (GRCm39) |
F110Y |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,607 (GRCm39) |
P55L |
probably benign |
Het |
| Slc10a2 |
T |
A |
8: 5,141,668 (GRCm39) |
S239C |
probably damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,141,667 (GRCm39) |
S239I |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,225,002 (GRCm39) |
V30A |
probably benign |
Het |
| Sncaip |
T |
G |
18: 53,018,035 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
T |
C |
7: 137,811,533 (GRCm39) |
R554G |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,202 (GRCm39) |
I116T |
probably damaging |
Het |
| Tprg1l |
A |
G |
4: 154,242,890 (GRCm39) |
S188P |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,407,925 (GRCm39) |
R1398H |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,394 (GRCm39) |
V2050E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,229,853 (GRCm39) |
C362R |
probably damaging |
Het |
|
| Other mutations in Cela3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Cela3b
|
APN |
4 |
137,149,280 (GRCm39) |
missense |
probably benign |
|
|
IGL01301:Cela3b
|
APN |
4 |
137,151,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01613:Cela3b
|
APN |
4 |
137,152,382 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
ANU18:Cela3b
|
UTSW |
4 |
137,151,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0669:Cela3b
|
UTSW |
4 |
137,155,841 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2937:Cela3b
|
UTSW |
4 |
137,150,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2938:Cela3b
|
UTSW |
4 |
137,150,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4327:Cela3b
|
UTSW |
4 |
137,151,242 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4451:Cela3b
|
UTSW |
4 |
137,148,355 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5059:Cela3b
|
UTSW |
4 |
137,152,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5707:Cela3b
|
UTSW |
4 |
137,152,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Cela3b
|
UTSW |
4 |
137,149,219 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9045:Cela3b
|
UTSW |
4 |
137,152,110 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9339:Cela3b
|
UTSW |
4 |
137,152,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Cela3b
|
UTSW |
4 |
137,150,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Cela3b
|
UTSW |
4 |
137,150,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cela3b
|
UTSW |
4 |
137,155,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation