Incidental Mutation 'R6842:Cela3a'
| ID |
533896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cela3a
|
| Ensembl Gene |
ENSMUSG00000078520 |
| Gene Name |
chymotrypsin-like elastase family, member 3A |
| Synonyms |
Gm13011 |
| MMRRC Submission |
044948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6842 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137128865-137137102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137132979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 91
(V91A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024200]
|
| AlphaFold |
A2A9U8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024200
AA Change: V91A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000024200
Gene: ENSMUSG00000078520
AA Change: V91A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
27 |
276 |
2.6e-82 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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 3A has little elastolytic activity. Like most of the human elastases, elastase 3A 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 3A preferentially cleaves proteins after alanine residues. Elastase 3A 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,432 (GRCm39) |
N69S |
probably benign |
Het |
| Adgrl3 |
C |
T |
5: 81,888,927 (GRCm39) |
A1042V |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,807,416 (GRCm39) |
V660A |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,604,461 (GRCm39) |
H395L |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,358,863 (GRCm39) |
I307T |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,800,101 (GRCm39) |
S381P |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,965 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc127 |
T |
C |
13: 74,505,088 (GRCm39) |
I212T |
probably damaging |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,402,952 (GRCm39) |
F2347L |
possibly damaging |
Het |
| Ddx19a |
A |
G |
8: 111,705,257 (GRCm39) |
V288A |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,928 (GRCm39) |
E53G |
probably damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,553,988 (GRCm39) |
I217N |
probably damaging |
Het |
| Fgfr1op2 |
T |
A |
6: 146,491,536 (GRCm39) |
|
probably null |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,275 (GRCm39) |
I6N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,439,781 (GRCm39) |
L128P |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,563 (GRCm39) |
S24F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,269,465 (GRCm39) |
D591E |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,888 (GRCm39) |
I254F |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,085,866 (GRCm39) |
M5V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,175,481 (GRCm39) |
D312G |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,107,917 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Oas1g |
T |
C |
5: 121,025,621 (GRCm39) |
E2G |
probably benign |
Het |
| Ocm |
T |
A |
5: 143,962,509 (GRCm39) |
I6F |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,268,401 (GRCm39) |
D373N |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,576 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,093 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,885 (GRCm39) |
N230S |
probably benign |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,215,640 (GRCm39) |
D419G |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,612,612 (GRCm39) |
I194F |
probably benign |
Het |
| Prdx6 |
A |
T |
1: 161,074,940 (GRCm39) |
C47S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,136,868 (GRCm39) |
S534P |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,968,979 (GRCm39) |
V452A |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,467,320 (GRCm39) |
V1177A |
probably benign |
Het |
| Tgfbr1 |
T |
C |
4: 47,383,757 (GRCm39) |
C32R |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,983 (GRCm39) |
N801S |
probably benign |
Het |
| Utp6 |
C |
T |
11: 79,831,775 (GRCm39) |
S504N |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,708,532 (GRCm39) |
S114A |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,866 (GRCm39) |
E425G |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,940,763 (GRCm39) |
T374I |
possibly damaging |
Het |
|
| Other mutations in Cela3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02830:Cela3a
|
APN |
4 |
137,128,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02869:Cela3a
|
APN |
4 |
137,131,145 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02968:Cela3a
|
APN |
4 |
137,131,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Cela3a
|
UTSW |
4 |
137,131,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Cela3a
|
UTSW |
4 |
137,129,995 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2092:Cela3a
|
UTSW |
4 |
137,131,737 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2277:Cela3a
|
UTSW |
4 |
137,133,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4766:Cela3a
|
UTSW |
4 |
137,129,986 (GRCm39) |
missense |
unknown |
|
|
R4960:Cela3a
|
UTSW |
4 |
137,129,959 (GRCm39) |
nonsense |
probably null |
|
|
R6666:Cela3a
|
UTSW |
4 |
137,131,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6957:Cela3a
|
UTSW |
4 |
137,135,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Cela3a
|
UTSW |
4 |
137,129,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7425:Cela3a
|
UTSW |
4 |
137,132,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7499:Cela3a
|
UTSW |
4 |
137,132,950 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7543:Cela3a
|
UTSW |
4 |
137,129,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7702:Cela3a
|
UTSW |
4 |
137,135,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8465:Cela3a
|
UTSW |
4 |
137,131,185 (GRCm39) |
nonsense |
probably null |
|
|
R8971:Cela3a
|
UTSW |
4 |
137,133,222 (GRCm39) |
missense |
probably benign |
|
|
R9517:Cela3a
|
UTSW |
4 |
137,131,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACCATTCTTTAGTTCTTGCAG -3'
(R):5'- GGCCACTGCATCATGTAAGTTC -3'
Sequencing Primer
(F):5'- AGTTCTTGCAGCTACCCACAG -3'
(R):5'- ACTGCATCATGTAAGTTCCATCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation