Mutagenetix > Incidental Mutation

Incidental Mutation 'R0669:Cela3b'

218852

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

038854-MU

Accession Numbers

Essential gene?

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

Stock #

R0669 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

137148319-137157831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137155841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 22 (H22R)

Ref Sequence

ENSEMBL: ENSMUSP00000099581 (fasta)

Gene Model

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

AlphaFold

Q9CQ52

Predicted Effect

probably benign
Transcript: ENSMUST00000102522
AA Change: H22R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099581
Gene: ENSMUSG00000023433
AA Change: H22R

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	27	262	8.81e-94	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,089,671 (GRCm39)	H71L	possibly damaging	Het
Abcb11	C	A	2: 69,159,662 (GRCm39)	V10L	probably benign	Het
Abcb9	T	C	5: 124,200,950 (GRCm39)	T689A	probably damaging	Het
Adam22	A	G	5: 8,193,036 (GRCm39)		probably benign	Het
Adamts5	A	G	16: 85,696,614 (GRCm39)	I181T	probably benign	Het
Adamts9	A	T	6: 92,857,938 (GRCm39)	V231D	probably damaging	Het
Angptl6	C	T	9: 20,787,823 (GRCm39)	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,772 (GRCm39)	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,189,906 (GRCm39)	V110A	probably benign	Het
Ccdc32	A	G	2: 118,849,648 (GRCm39)		probably benign	Het
Cep44	T	C	8: 56,994,008 (GRCm39)	T190A	possibly damaging	Het
Chsy1	T	C	7: 65,821,435 (GRCm39)	C557R	probably damaging	Het
Cntd1	A	G	11: 101,178,324 (GRCm39)	T308A	probably damaging	Het
Cutal	T	C	2: 34,775,878 (GRCm39)		probably benign	Het
Dipk1b	A	G	2: 26,524,878 (GRCm39)	T93A	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,342,911 (GRCm39)	S1418R	probably benign	Het
Dnpep	A	G	1: 75,288,422 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,875,716 (GRCm39)	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,928,012 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,725,419 (GRCm39)	Y221C	probably damaging	Het
Fer1l6	T	C	15: 58,425,573 (GRCm39)		probably null	Het
Gm5592	T	C	7: 40,805,254 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,395,073 (GRCm39)	Y536C	probably damaging	Het
Krt72	T	C	15: 101,686,740 (GRCm39)	E402G	probably damaging	Het
Lamb3	T	C	1: 193,014,638 (GRCm39)	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120 (GRCm39)	T287S	probably benign	Het
Lipo3	T	A	19: 33,537,025 (GRCm39)	T232S	probably benign	Het
Lrrc63	G	A	14: 75,363,550 (GRCm39)	H194Y	probably benign	Het
Map3k13	A	G	16: 21,725,274 (GRCm39)	T416A	probably benign	Het
Mcm3	A	T	1: 20,875,153 (GRCm39)		probably null	Het
Mms22l	T	C	4: 24,517,223 (GRCm39)	V258A	probably benign	Het
Mrpl46	A	T	7: 78,432,631 (GRCm39)	L49*	probably null	Het
Mrs2	T	C	13: 25,177,742 (GRCm39)	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,656,708 (GRCm39)	Y403*	probably null	Het
Muc20	G	A	16: 32,614,850 (GRCm39)	P176S	unknown	Het
Mup21	C	T	4: 62,068,964 (GRCm39)	C9Y	unknown	Het
Mup-ps21	A	T	4: 61,949,007 (GRCm39)		noncoding transcript	Het
Mybph	T	G	1: 134,125,081 (GRCm39)		probably null	Het
Mypn	A	G	10: 62,970,702 (GRCm39)		probably benign	Het
Nav2	T	C	7: 49,058,431 (GRCm39)	S124P	probably damaging	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Numa1	A	C	7: 101,648,884 (GRCm39)	I872L	probably benign	Het
Or14c40	A	G	7: 86,313,544 (GRCm39)	I225V	possibly damaging	Het
Or2a7	C	T	6: 43,150,938 (GRCm39)	T6I	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4c11	A	T	2: 88,695,272 (GRCm39)	M108L	probably benign	Het
Or5p52	T	A	7: 107,502,446 (GRCm39)	I174K	probably damaging	Het
Pcdhb9	A	T	18: 37,535,308 (GRCm39)	N434I	probably damaging	Het
Pigq	A	T	17: 26,155,736 (GRCm39)		probably null	Het
Plxna2	T	G	1: 194,471,145 (GRCm39)	V972G	probably damaging	Het
Psma3	G	A	12: 71,035,269 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,703,975 (GRCm39)	T1336A	probably benign	Het
Rdh7	T	C	10: 127,720,598 (GRCm39)	D258G	probably benign	Het
Serpinb6c	A	G	13: 34,083,252 (GRCm39)	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,448,633 (GRCm39)	Y218F	probably benign	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc12a8	A	T	16: 33,371,274 (GRCm39)	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,683,600 (GRCm39)	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,339,165 (GRCm39)	I334L	probably benign	Het
Sorcs1	A	G	19: 50,230,380 (GRCm39)		probably benign	Het
Taar8c	A	G	10: 23,977,401 (GRCm39)	L137P	probably damaging	Het
Tcam1	A	T	11: 106,176,252 (GRCm39)	D326V	possibly damaging	Het
Telo2	A	T	17: 25,324,797 (GRCm39)	V461D	probably benign	Het
Tmprss7	A	T	16: 45,498,325 (GRCm39)	C351*	probably null	Het
Trim66	T	A	7: 109,054,199 (GRCm39)		probably benign	Het
Ube2d1	G	T	10: 71,097,940 (GRCm39)	H32N	probably benign	Het
Ubp1	T	C	9: 113,793,736 (GRCm39)		probably benign	Het
Vma21	C	T	X: 70,863,763 (GRCm39)	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,521,345 (GRCm39)	S46P	probably benign	Het
Wars1	T	C	12: 108,831,944 (GRCm39)	S374G	probably benign	Het
Wbp1	T	C	6: 83,096,326 (GRCm39)	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,123,209 (GRCm39)		noncoding transcript	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
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
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'- AATCCCAGCCGAGATTGCAGATG -3'
(R):5'- TGAGATAAAAGAGACCCTGCCCTCC -3'

Sequencing Primer
(F):5'- TTGCAGATGGAACAGTTACAACC -3'
(R):5'- ctccccctcctcttcctc -3'

Posted On

2014-08-21