Mutagenetix > Incidental Mutation

Incidental Mutation 'R7702:Cela3a'

594048

Institutional Source

Beutler Lab

Gene Symbol

Cela3a

Ensembl Gene

ENSMUSG00000078520

Gene Name

chymotrypsin-like elastase family, member 3A

Synonyms

Gm13011

MMRRC Submission

045763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137128865-137137102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137135501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 21 (S21P)

Ref Sequence

ENSEMBL: ENSMUSP00000024200 (fasta)

Gene Model

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

AlphaFold

A2A9U8

Predicted Effect

probably benign
Transcript: ENSMUST00000024200
AA Change: S21P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024200
Gene: ENSMUSG00000078520
AA Change: S21P

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: 99.6%
20x: 98.6%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,167,278 (GRCm39)		probably null	Het
AU040320	T	A	4: 126,708,166 (GRCm39)	S261T	probably benign	Het
Banp	T	A	8: 122,705,326 (GRCm39)	C65*	probably null	Het
Bloc1s5	T	C	13: 38,787,850 (GRCm39)	D178G	probably benign	Het
Cacna1c	A	G	6: 118,575,727 (GRCm39)	F1941L		Het
Ccdc121rt3	T	C	5: 112,503,063 (GRCm39)	K214E	probably benign	Het
Cd48	A	G	1: 171,523,348 (GRCm39)	I64V	probably damaging	Het
Cidec	A	G	6: 113,411,415 (GRCm39)	Y12H	possibly damaging	Het
Col12a1	C	G	9: 79,588,803 (GRCm39)	R1104T	probably damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dbnl	C	T	11: 5,748,048 (GRCm39)	L298F	probably benign	Het
Dnah1	C	A	14: 31,032,866 (GRCm39)	V390F	probably benign	Het
Dnah17	T	C	11: 118,012,304 (GRCm39)	D486G	possibly damaging	Het
Dnah17	T	C	11: 117,916,466 (GRCm39)	I4236V	probably benign	Het
Dpp6	T	A	5: 27,857,274 (GRCm39)	D406E	probably benign	Het
Dsp	C	T	13: 38,359,183 (GRCm39)	A318V	possibly damaging	Het
Duox1	T	C	2: 122,160,120 (GRCm39)	L745P	possibly damaging	Het
Ell	C	A	8: 70,992,364 (GRCm39)	A3E	possibly damaging	Het
Fer1l5	T	A	1: 36,459,775 (GRCm39)	L1832*	probably null	Het
Filip1	G	T	9: 79,727,931 (GRCm39)	N229K	probably benign	Het
Flg	A	T	3: 93,200,089 (GRCm39)	H195L	unknown	Het
Fndc7	G	T	3: 108,770,129 (GRCm39)	P685H	probably damaging	Het
Ggt1	A	G	10: 75,412,116 (GRCm39)	N120S	probably benign	Het
Gm4952	A	T	19: 12,604,428 (GRCm39)	H280L	probably benign	Het
Golim4	A	T	3: 75,794,091 (GRCm39)	D551E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hmbs	A	C	9: 44,248,147 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,273,054 (GRCm39)	D474G	probably benign	Het
Ipo4	A	C	14: 55,869,787 (GRCm39)	H343Q	probably damaging	Het
Jade2	C	T	11: 51,707,744 (GRCm39)	R823H	probably damaging	Het
Jakmip1	C	T	5: 37,274,841 (GRCm39)	T453I	probably damaging	Het
Klk6	T	C	7: 43,478,689 (GRCm39)	S199P	probably damaging	Het
Ltn1	A	T	16: 87,223,166 (GRCm39)	Y105N	probably damaging	Het
Map3k19	G	T	1: 127,756,827 (GRCm39)	T394N	probably damaging	Het
Megf6	G	A	4: 154,354,927 (GRCm39)	D1445N	probably benign	Het
Mmp21	A	G	7: 133,280,791 (GRCm39)	Y60H	probably damaging	Het
Mylk4	C	T	13: 32,904,585 (GRCm39)		probably null	Het
Nckipsd	A	T	9: 108,691,216 (GRCm39)	R38*	probably null	Het
Nob1	G	A	8: 108,139,737 (GRCm39)	R341*	probably null	Het
Or11g25	A	G	14: 50,723,751 (GRCm39)	T279A	possibly damaging	Het
Or1e19	T	A	11: 73,324,175 (GRCm39)		probably benign	Het
Or5ac22	A	G	16: 59,134,997 (GRCm39)	Y258H	probably damaging	Het
Pcdh1	A	G	18: 38,336,569 (GRCm39)	L22P	unknown	Het
Pebp4	T	A	14: 70,297,056 (GRCm39)	N198K	probably benign	Het
Pkp4	T	C	2: 59,138,757 (GRCm39)	S336P	probably damaging	Het
Prr5l	T	A	2: 101,547,442 (GRCm39)	D361V	probably benign	Het
Ralgapa1	C	G	12: 55,756,340 (GRCm39)	V1086L	probably damaging	Het
Ralgapa1	T	A	12: 55,756,341 (GRCm39)	Q1085H	probably damaging	Het
Ryr2	T	C	13: 11,705,219 (GRCm39)	N2849S	probably damaging	Het
Slc6a18	A	T	13: 73,820,915 (GRCm39)	L223H	probably damaging	Het
Sqstm1	T	G	11: 50,096,932 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,195,835 (GRCm39)	E3945G	probably damaging	Het
Syne2	A	G	12: 76,037,161 (GRCm39)	Y3780C	probably benign	Het
Tecpr1	A	G	5: 144,140,236 (GRCm39)	Y840H	probably damaging	Het
Tmem183a	T	C	1: 134,288,539 (GRCm39)	Q108R	probably benign	Het
Tmtc1	A	T	6: 148,345,415 (GRCm39)	C95S	probably benign	Het
Trappc8	C	T	18: 20,958,119 (GRCm39)	V1250I	probably damaging	Het
Tshz1	A	G	18: 84,032,461 (GRCm39)	V649A	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r123	A	C	7: 20,896,302 (GRCm39)	T65P	probably damaging	Het
Vmn2r63	A	T	7: 42,577,553 (GRCm39)	H328Q	possibly damaging	Het
Zeb1	T	C	18: 5,766,802 (GRCm39)	S438P	probably 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
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
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'- TTTTGAAGTCAAACTAGGGAGTGG -3'
(R):5'- CTAGAGAGGGGAAGGGCTCC -3'

Sequencing Primer
(F):5'- AGAGGAACTGGTGGGGTC -3'
(R):5'- AGACAGGATCTCTCTGTGTAGC -3'

Posted On

2019-11-12