Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Cela3a'

570267

Institutional Source

Beutler Lab

Gene Symbol

Cela3a

Ensembl Gene

ENSMUSG00000078520

Gene Name

chymotrypsin-like elastase family, member 3A

Synonyms

Gm13011

MMRRC Submission

045374-MU

Accession Numbers

Essential gene?

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

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137128865-137137102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137129917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 235 (N235D)

Ref Sequence

ENSEMBL: ENSMUSP00000024200 (fasta)

Gene Model

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

AlphaFold

A2A9U8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024200
AA Change: N235D

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024200
Gene: ENSMUSG00000078520
AA Change: N235D

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

Meta Mutation Damage Score

0.1462

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	G	T	3: 104,985,728 (GRCm39)	R47S	unknown	Het
Abtb2	T	G	2: 103,397,757 (GRCm39)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,727,441 (GRCm39)	L457P	probably damaging	Het
Amer3	C	A	1: 34,626,983 (GRCm39)	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,760,335 (GRCm39)	S729P	probably benign	Het
Asap2	T	G	12: 21,279,458 (GRCm39)	I418S	probably benign	Het
Atp5mf	T	C	5: 145,125,295 (GRCm39)		probably null	Het
Brinp3	T	A	1: 146,777,824 (GRCm39)	V757E	probably benign	Het
Brip1	C	T	11: 86,029,929 (GRCm39)	G572R	probably benign	Het
C3	C	A	17: 57,530,215 (GRCm39)	R462L	probably benign	Het
Cat	T	A	2: 103,293,643 (GRCm39)	H395L	probably benign	Het
Ccdc168	G	T	1: 44,098,656 (GRCm39)	P814Q	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,076,094 (GRCm39)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,218,484 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,654 (GRCm39)	H29N	probably benign	Het
Dll3	C	T	7: 27,998,536 (GRCm39)	R143H	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm39)	*114R	probably null	Het
Ecm2	T	C	13: 49,668,554 (GRCm39)	S86P	probably damaging	Het
Eif5	T	C	12: 111,506,724 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,644,328 (GRCm39)		probably null	Het
Exph5	A	G	9: 53,287,196 (GRCm39)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,529,586 (GRCm39)	F110L	probably benign	Het
Flt1	T	A	5: 147,517,191 (GRCm39)	E1032V	probably damaging	Het
Galnt5	A	T	2: 57,907,205 (GRCm39)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,740,299 (GRCm39)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,061,015 (GRCm39)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,609,499 (GRCm39)	C246S	probably damaging	Het
Gstm4	A	G	3: 107,949,689 (GRCm39)	L137P	probably benign	Het
Hsd17b13	T	C	5: 104,116,616 (GRCm39)	T169A	probably damaging	Het
Hydin	A	C	8: 111,326,994 (GRCm39)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,476,220 (GRCm39)	L88P	probably damaging	Het
Inhca	T	A	9: 103,159,845 (GRCm39)	E22V	possibly damaging	Het
Kcnab1	G	A	3: 65,283,952 (GRCm39)	R390H	probably benign	Het
Kng1	C	A	16: 22,886,537 (GRCm39)	H161N	possibly damaging	Het
Lamp5	T	C	2: 135,902,878 (GRCm39)	V199A	probably benign	Het
Lrig3	G	A	10: 125,845,835 (GRCm39)	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,129,799 (GRCm39)	R412H	probably damaging	Het
Marchf6	C	A	15: 31,486,505 (GRCm39)	C350F	probably benign	Het
Mastl	A	G	2: 23,023,401 (GRCm39)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,590,951 (GRCm39)	M231L	probably benign	Het
Mical2	T	C	7: 111,981,358 (GRCm39)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	A	G	11: 60,368,787 (GRCm39)	M516V	probably benign	Het
Myo1b	A	T	1: 51,790,413 (GRCm39)	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,460,147 (GRCm39)	L381*	probably null	Het
Nln	T	C	13: 104,187,355 (GRCm39)	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,784,663 (GRCm39)	P271S	probably benign	Het
Obox6	A	C	7: 15,568,571 (GRCm39)	L102V	possibly damaging	Het
Or4a69	T	C	2: 89,312,799 (GRCm39)	S227G	probably benign	Het
Or4p8	T	C	2: 88,727,615 (GRCm39)	I109V	possibly damaging	Het
Or7g33	A	G	9: 19,448,395 (GRCm39)	M277T	probably damaging	Het
Or8k16	T	C	2: 85,520,181 (GRCm39)	M136T	probably damaging	Het
Pde10a	A	G	17: 9,186,294 (GRCm39)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,343,759 (GRCm39)	S760L	possibly damaging	Het
Pid1	T	A	1: 84,136,850 (GRCm39)	I94L	unknown	Het
Plekhn1	T	C	4: 156,307,128 (GRCm39)	H474R	probably benign	Het
Prcc	A	T	3: 87,776,988 (GRCm39)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,739,886 (GRCm39)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,062,260 (GRCm39)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm39)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,559,657 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,779 (GRCm39)	V446A	probably damaging	Het
Slc6a4	C	G	11: 76,907,911 (GRCm39)	Y358*	probably null	Het
Sned1	A	C	1: 93,209,458 (GRCm39)	E857A	probably damaging	Het
Spata31e2	A	T	1: 26,723,548 (GRCm39)	L544Q	probably benign	Het
Spata31e3	T	C	13: 50,399,780 (GRCm39)	I849V	probably benign	Het
Spdye4b	C	T	5: 143,188,145 (GRCm39)	R213C	possibly damaging	Het
Spry2	T	G	14: 106,130,946 (GRCm39)	E80A	probably damaging	Het
Stard9	G	A	2: 120,497,015 (GRCm39)	C142Y	probably benign	Het
Sync	A	T	4: 129,188,099 (GRCm39)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,185,117 (GRCm39)	C718R		Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,330,438 (GRCm39)	E185G	probably benign	Het
Tyk2	T	C	9: 21,019,330 (GRCm39)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,482,428 (GRCm39)	V87I	not run	Het
Vmn2r49	A	G	7: 9,720,741 (GRCm39)	V250A	probably benign	Het
Yipf3	A	C	17: 46,561,753 (GRCm39)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,255,160 (GRCm39)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	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
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'- AAGGGTCTTCAGATTATCCCTCC -3'
(R):5'- CTGGGTGCTGTCTTACACTG -3'

Sequencing Primer
(F):5'- TCCTAAACTCCCTGGCAGG -3'
(R):5'- TAATGCTGTGACCAAGTGCC -3'

Posted On

2019-09-13