Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02830:Cela3a'

361399

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cela3a

Ensembl Gene

ENSMUSG00000078520

Gene Name

chymotrypsin-like elastase family, member 3A

Synonyms

Gm13011

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02830

Quality Score

Status

Chromosome

Chromosomal Location

137128865-137137102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137128946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 282 (N282S)

Ref Sequence

ENSEMBL: ENSMUSP00000024200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024200]

AlphaFold

A2A9U8

Predicted Effect

probably benign
Transcript: ENSMUST00000024200
AA Change: N282S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000024200
Gene: ENSMUSG00000078520
AA Change: N282S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	27	276	2.6e-82	SMART

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 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,348,235 (GRCm39)	E67D	possibly damaging	Het
Acad11	T	A	9: 103,953,118 (GRCm39)	F116I	probably damaging	Het
Acox2	G	A	14: 8,255,298 (GRCm38)	T160I	probably damaging	Het
Anxa7	A	T	14: 20,506,608 (GRCm39)	M444K	possibly damaging	Het
Atg2a	A	G	19: 6,297,711 (GRCm39)	D423G	probably benign	Het
Cyp2c50	G	A	19: 40,086,500 (GRCm39)	V296I	probably benign	Het
Fcgbpl1	C	A	7: 27,862,348 (GRCm39)	H2471Q	probably damaging	Het
Fgd3	A	G	13: 49,418,107 (GRCm39)		probably benign	Het
Gfus	C	T	15: 75,797,437 (GRCm39)	V275I	probably benign	Het
Gimap8	G	A	6: 48,633,239 (GRCm39)	A353T	probably benign	Het
Grin3a	T	A	4: 49,702,787 (GRCm39)	M900L	possibly damaging	Het
H1f0	T	G	15: 78,913,511 (GRCm39)		probably benign	Het
Heatr1	T	C	13: 12,441,093 (GRCm39)	V1456A	possibly damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Kbtbd3	T	A	9: 4,330,096 (GRCm39)	S157T	possibly damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Klc1	T	C	12: 111,743,341 (GRCm39)	Y223H	probably damaging	Het
Klhl33	C	T	14: 51,129,214 (GRCm39)	V672M	probably damaging	Het
Lrrc49	G	A	9: 60,592,393 (GRCm39)	L34F	probably damaging	Het
Nalcn	C	T	14: 123,530,881 (GRCm39)	V1386I	probably damaging	Het
Or14c39	T	G	7: 86,344,382 (GRCm39)	C239W	probably damaging	Het
Or4b13	A	T	2: 90,083,125 (GRCm39)	I69N	probably damaging	Het
Or51b6	C	T	7: 103,555,651 (GRCm39)	P2S	probably benign	Het
Or5ac19	A	G	16: 59,089,416 (GRCm39)	S205P	possibly damaging	Het
Orc5	A	T	5: 22,734,265 (GRCm39)	L173Q	probably damaging	Het
Otud4	T	G	8: 80,399,930 (GRCm39)	D880E	probably benign	Het
Pde12	T	C	14: 26,389,740 (GRCm39)	Y323C	probably damaging	Het
Pde8b	G	T	13: 95,189,409 (GRCm39)	D198E	probably benign	Het
Prom2	T	A	2: 127,376,989 (GRCm39)	I542F	possibly damaging	Het
Ptprj	G	A	2: 90,283,488 (GRCm39)	T952I	probably benign	Het
Ribc2	T	A	15: 85,016,458 (GRCm39)		probably benign	Het
Sec31b	C	T	19: 44,520,142 (GRCm39)	R214K	probably damaging	Het
Senp5	G	A	16: 31,802,303 (GRCm39)		probably benign	Het
Sh3pxd2a	G	A	19: 47,271,517 (GRCm39)	R249W	probably damaging	Het
Sorcs3	G	A	19: 48,711,441 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,180 (GRCm39)	T241A	probably benign	Het
Tac1	G	A	6: 7,555,650 (GRCm39)	V13I	probably benign	Het
Tnnc2	T	A	2: 164,619,430 (GRCm39)	D138V	probably null	Het
Tspan32	T	A	7: 142,571,329 (GRCm39)	M159K	possibly damaging	Het
Ttc28	A	T	5: 111,434,105 (GRCm39)	T2380S	probably benign	Het
Ubc	T	A	5: 125,464,377 (GRCm39)	I317F	probably damaging	Het
Usp24	T	C	4: 106,204,584 (GRCm39)	S268P	possibly damaging	Het
Vmn2r91	C	A	17: 18,356,884 (GRCm39)	H850Q	probably benign	Het
Xrn1	T	C	9: 95,900,234 (GRCm39)		probably null	Het
Zfp329	A	C	7: 12,544,043 (GRCm39)	C494G	probably damaging	Het
Zfp54	T	C	17: 21,653,718 (GRCm39)	S71P	probably damaging	Het

Other mutations in Cela3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6842:Cela3a	UTSW	4	137,132,979 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-12-18