Mutagenetix > Incidental Mutation

Incidental Mutation 'R5707:Cela3b'

452011

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

043332-MU

Accession Numbers

Essential gene?

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

Stock #

R5707 (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 137152167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 97 (Q97K)

Ref Sequence

ENSEMBL: ENSMUSP00000099581 (fasta)

Gene Model

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

AlphaFold

Q9CQ52

Predicted Effect

probably damaging
Transcript: ENSMUST00000102522
AA Change: Q97K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099581
Gene: ENSMUSG00000023433
AA Change: Q97K

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

0.1801

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (56/58)

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
Abca13	T	C	11: 9,460,620 (GRCm39)	L4210P	probably damaging	Het
Adcy6	T	C	15: 98,496,622 (GRCm39)	T518A	probably damaging	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aqp11	A	G	7: 97,386,635 (GRCm39)	V187A	possibly damaging	Het
Arhgef15	A	G	11: 68,845,541 (GRCm39)	S104P	probably damaging	Het
Birc6	T	A	17: 75,003,399 (GRCm39)	N4762K	probably damaging	Het
Cacna1e	T	C	1: 154,509,463 (GRCm39)	D264G	probably damaging	Het
Cenpc1	T	A	5: 86,183,293 (GRCm39)	R499W	possibly damaging	Het
Chct1	A	G	11: 85,064,138 (GRCm39)	N93S	probably benign	Het
Cnr1	C	A	4: 33,944,330 (GRCm39)	C239*	probably null	Het
Col6a2	T	C	10: 76,446,865 (GRCm39)	K348E	possibly damaging	Het
Ctnnb1	C	A	9: 120,784,234 (GRCm39)	L368I	probably benign	Het
Diras1	T	C	10: 80,857,915 (GRCm39)	E112G	probably benign	Het
Dop1a	T	A	9: 86,385,050 (GRCm39)	M332K	possibly damaging	Het
Dpy19l1	T	C	9: 24,325,563 (GRCm39)	*747W	probably null	Het
Dydc2	T	G	14: 40,783,911 (GRCm39)	T71P	probably damaging	Het
Elapor2	A	G	5: 9,491,698 (GRCm39)	Y686C	probably damaging	Het
Ggt1	T	A	10: 75,421,072 (GRCm39)	I429N	probably benign	Het
Gm5114	G	C	7: 39,060,700 (GRCm39)	L50V	probably benign	Het
Gm5121	T	G	9: 57,241,766 (GRCm39)		noncoding transcript	Het
Kidins220	A	G	12: 25,063,390 (GRCm39)	D933G	probably damaging	Het
Kirrel3	A	G	9: 34,924,572 (GRCm39)	K286R	probably damaging	Het
Klf5	T	C	14: 99,538,944 (GRCm39)	I39T	probably benign	Het
Krt14	C	T	11: 100,095,584 (GRCm39)	V274I	possibly damaging	Het
Meiob	A	G	17: 25,054,025 (GRCm39)	D364G	probably benign	Het
Mroh7	T	A	4: 106,539,082 (GRCm39)	E1190D	possibly damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Odad4	G	A	11: 100,444,887 (GRCm39)	A348T	probably damaging	Het
Or1af1	C	A	2: 37,109,901 (GRCm39)	N133K	probably benign	Het
Or1e23	G	T	11: 73,407,451 (GRCm39)	D191E	probably damaging	Het
Or2b2b	A	G	13: 21,858,769 (GRCm39)	L115P	probably damaging	Het
Pcare	G	T	17: 72,058,567 (GRCm39)	A370E	possibly damaging	Het
Pdlim5	T	A	3: 142,010,060 (GRCm39)	H294L	probably damaging	Het
Pdzd8	A	T	19: 59,288,057 (GRCm39)	D1114E	probably benign	Het
Phf20	T	G	2: 156,138,691 (GRCm39)		probably null	Het
Plec	C	T	15: 76,083,871 (GRCm39)		probably benign	Het
Ppp1r18	T	C	17: 36,178,128 (GRCm39)	M1T	probably null	Het
Ppp4r3a	G	A	12: 101,024,770 (GRCm39)	T243I	probably damaging	Het
Prss41	C	T	17: 24,061,390 (GRCm39)	V134I	probably benign	Het
Pter	T	C	2: 12,982,991 (GRCm39)		probably benign	Het
Rasgef1b	T	G	5: 99,382,461 (GRCm39)	K176N	possibly damaging	Het
Reps1	T	A	10: 17,931,758 (GRCm39)	D16E	probably benign	Het
Slc4a5	T	A	6: 83,238,397 (GRCm39)	D73E	probably benign	Het
Smgc	A	T	15: 91,744,861 (GRCm39)	T146S	possibly damaging	Het
Sptbn1	A	T	11: 30,093,174 (GRCm39)	W396R	possibly damaging	Het
Stkld1	A	G	2: 26,833,999 (GRCm39)	E162G	probably damaging	Het
Tanc1	T	C	2: 59,588,874 (GRCm39)	F106L	probably benign	Het
Tarbp1	A	G	8: 127,193,883 (GRCm39)	Y340H	probably damaging	Het
Tenm2	T	C	11: 35,938,009 (GRCm39)	I1556V	possibly damaging	Het
Tmem64	T	C	4: 15,266,288 (GRCm39)	C113R	probably damaging	Het
Try4	T	C	6: 41,281,977 (GRCm39)	F188L	possibly damaging	Het
Ucn3	A	G	13: 3,991,556 (GRCm39)	V32A	probably benign	Het
Vmn2r83	T	A	10: 79,327,183 (GRCm39)	M597K	possibly damaging	Het
Wdr90	A	G	17: 26,076,166 (GRCm39)	V491A	probably benign	Het
Xylt1	T	A	7: 117,255,717 (GRCm39)	M763K	possibly damaging	Het
Zfp507	G	T	7: 35,493,588 (GRCm39)	A485E	probably damaging	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
R4327:Cela3b	UTSW	4	137,151,242 (GRCm39)	missense	probably benign	0.26
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
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'- GGGATTCTGACCAAGATGGG -3'
(R):5'- TGCATCTCGTGAGTTCCACC -3'

Sequencing Primer
(F):5'- TTTAGTTATCGTAGCTACCCACAG -3'
(R):5'- GTGAGTTCCACCCCCTATGC -3'

Posted On

2017-01-03