Mutagenetix > Incidental Mutation

Incidental Mutation 'R4327:Cela3b'

324410

Institutional Source

Beutler Lab

Gene Symbol

Cela3b

Ensembl Gene

ENSMUSG00000023433

Gene Name

chymotrypsin-like elastase family, member 3B

Synonyms

Ela3b, 0910001F22Rik, 2310074F01Rik, Ela3

MMRRC Submission

041097-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137148319-137157831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 137151242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 137 (A137E)

Ref Sequence

ENSEMBL: ENSMUSP00000099581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102522]

AlphaFold

Q9CQ52

Predicted Effect

probably benign
Transcript: ENSMUST00000102522
AA Change: A137E

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099581
Gene: ENSMUSG00000023433
AA Change: A137E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,221,664 (GRCm39)	D55G	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Arhgef12	C	A	9: 42,886,525 (GRCm39)	E1152*	probably null	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,687,056 (GRCm39)		probably benign	Het
Bcl2l1	A	G	2: 152,624,099 (GRCm39)	V223A	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Col16a1	T	C	4: 129,988,344 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,299 (GRCm39)		probably benign	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,300,611 (GRCm39)	M155K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kcnn1	A	T	8: 71,305,307 (GRCm39)	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,568,561 (GRCm39)	E385G	probably benign	Het
Klhl28	G	A	12: 64,996,952 (GRCm39)	A463V	probably damaging	Het
Lhb	A	G	7: 45,070,383 (GRCm39)	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Muc2	A	C	7: 141,281,577 (GRCm39)	S479R	probably damaging	Het
Or11g27	T	A	14: 50,770,971 (GRCm39)	I34N	probably benign	Het
Or12e10	G	T	2: 87,640,496 (GRCm39)	V111L	probably benign	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or52n1	G	A	7: 104,382,833 (GRCm39)	T246I	probably damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pex26	A	T	6: 121,164,373 (GRCm39)	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,629,809 (GRCm39)		probably benign	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Scn7a	A	G	2: 66,567,815 (GRCm39)	F260L	probably damaging	Het
Serpinb3a	T	A	1: 106,979,500 (GRCm39)	M1L	probably damaging	Het
Sh3d19	T	C	3: 86,031,020 (GRCm39)	I728T	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tiam1	A	G	16: 89,652,779 (GRCm39)	V781A	possibly damaging	Het
Tigd2	C	A	6: 59,187,562 (GRCm39)	T143K	probably benign	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem161b	G	A	13: 84,399,359 (GRCm39)	G5D	probably damaging	Het
Tonsl	G	A	15: 76,523,916 (GRCm39)	A28V	probably benign	Het
Treml4	T	C	17: 48,581,417 (GRCm39)	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,087,131 (GRCm39)	V175D	probably damaging	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,670,844 (GRCm39)	C410R	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	probably benign	Het

Other mutations in Cela3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Cela3b	APN	4	137,150,592 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCATCCCAAAATGATCCAG -3'
(R):5'- CAAATGACTTAGGAAGCACCAG -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- CACTTGCAGAGCTCTGAGTTCAAG -3'

Posted On

2015-06-24