Mutagenetix > Incidental Mutations

Incidental Mutation 'R6378:Cela1'

515153

Institutional Source

Beutler Lab

Gene Symbol

Cela1

Ensembl Gene

ENSMUSG00000023031

Gene Name

chymotrypsin-like elastase family, member 1

Synonyms

1810062B19Rik, Ela1, Ela-1, 1810009A17Rik, PC-TsF

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100674421-100687921 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100687190 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 20 (V20I)

Ref Sequence

ENSEMBL: ENSMUSP00000023775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023775] [ENSMUST00000052069] [ENSMUST00000159715]

Predicted Effect

probably benign
Transcript: ENSMUST00000023775
AA Change: V20I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000023775
Gene: ENSMUSG00000023031
AA Change: V20I

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	26	259	1.24e-88	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052069

SMART Domains

Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	177	431	4.2e-10	PFAM
Pfam:Glycos_transf_2	180	366	8.8e-36	PFAM
Pfam:Glyco_transf_7C	337	415	8.5e-14	PFAM
RICIN	496	622	1.53e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159715

SMART Domains

Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	177	432	1e-10	PFAM
Pfam:Glycos_transf_2	180	366	4.1e-31	PFAM
Pfam:Glyco_transf_7C	337	415	6.7e-13	PFAM
RICIN	496	622	1.53e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229888

Predicted Effect

probably benign
Transcript: ENSMUST00000230312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230642

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

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, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 73,123,925	D408E	probably benign	Het
Agpat2	T	C	2: 26,596,135	N178S	probably benign	Het
Arsi	T	C	18: 60,916,501	F152S	probably damaging	Het
Atp13a2	T	A	4: 141,007,056	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,891,152	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 56,962,507	L2P	probably damaging	Het
Cby3	A	G	11: 50,359,533	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 180,093,996	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,126,536		probably null	Het
Cmpk2	G	A	12: 26,469,416	G22E	possibly damaging	Het
Ctcf	T	A	8: 105,663,791	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,411,739	C353F	probably damaging	Het
Efcab3	A	G	11: 105,108,794	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,592,971	Y10*	probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Eml4	T	A	17: 83,448,217	W336R	probably damaging	Het
Erich6	T	C	3: 58,622,359		probably null	Het
Eya1	T	C	1: 14,302,803	N31D	possibly damaging	Het
Fam103a1	A	G	7: 81,767,639	Y29C	probably damaging	Het
Fam81a	T	A	9: 70,110,346	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,900,990	T487A	possibly damaging	Het
Ganc	T	C	2: 120,433,826	M420T	probably damaging	Het
Gimap7	A	T	6: 48,724,182	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,433,612	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,240,945	S98G	probably benign	Het
Hoxd10	T	C	2: 74,694,334	I330T	possibly damaging	Het
Ik	T	A	18: 36,757,288	I539N	probably damaging	Het
Il17rb	G	A	14: 30,000,363	T237I	probably damaging	Het
Ing2	T	A	8: 47,669,258	Q85L	probably benign	Het
Lrp4	C	A	2: 91,493,829	N1208K	probably benign	Het
Lvrn	T	A	18: 46,894,957	S888R	probably benign	Het
Map2	T	C	1: 66,415,329	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,539,170		probably null	Het
Mis18bp1	T	C	12: 65,149,247	D581G	probably benign	Het
Muc4	T	C	16: 32,778,946	V3289A	probably benign	Het
Myom2	T	A	8: 15,099,356	I609N	probably benign	Het
Nav1	A	T	1: 135,454,695	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,655,726	I302V	probably damaging	Het
Neb	T	A	2: 52,293,721	K978N	probably damaging	Het
Nol8	A	G	13: 49,667,355	E878G	probably damaging	Het
Nrde2	A	T	12: 100,130,757	I928N	probably damaging	Het
Nxf1	T	A	19: 8,764,546	D145E	probably benign	Het
Obox3	T	A	7: 15,626,102	H214L	probably benign	Het
Obscn	T	C	11: 59,073,746	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,202,935	E83G	probably benign	Het
Olfr1416	A	G	1: 92,480,456	L55P	probably damaging	Het
Olfr281	T	C	15: 98,456,544	V78A	probably benign	Het
Olfr457	T	G	6: 42,471,753	M142L	probably benign	Het
Olfr96	T	A	17: 37,225,797	V224E	probably benign	Het
Pcsk4	G	T	10: 80,328,975	H69N	probably benign	Het
Plcl2	C	T	17: 50,668,160		probably null	Het
Pmfbp1	T	C	8: 109,530,266	I534T	probably damaging	Het
Pqlc3	T	C	12: 16,997,643	Y96C	probably damaging	Het
Prss23	A	T	7: 89,510,033	I276N	probably damaging	Het
Rhd	T	A	4: 134,894,385	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Homo
Scg5	A	G	2: 113,827,392	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,486,036	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,768,325	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,917,632	L486*	probably null	Het
Slc25a47	G	A	12: 108,856,143	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,905,054	K277T	probably damaging	Het
Sorcs1	T	A	19: 50,225,177	E704V	possibly damaging	Het
Sptan1	T	C	2: 30,018,515	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,021,383		probably null	Het
Sytl2	A	T	7: 90,358,224	K65*	probably null	Het
Tas2r109	T	G	6: 132,980,881	I29L	probably benign	Het
Tfap2a	A	T	13: 40,723,241	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,177,813	L128F	probably benign	Het
Trappc12	A	T	12: 28,747,083	L150Q	probably damaging	Het
Trim43b	T	A	9: 89,085,399	I395L	probably benign	Het
U2surp	C	T	9: 95,491,421	E232K	probably benign	Het
Vax1	T	C	19: 59,166,224	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,233,602	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,544,783	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,278,405	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,275,096	G394D	probably damaging	Het
Ybx2	A	G	11: 69,940,353	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,243,350	N545K	probably benign	Het
Zp1	T	C	19: 10,914,853	T56A	probably benign	Het

Other mutations in Cela1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1845:Cela1	UTSW	15	100685167	missense	probably benign	0.43
R2060:Cela1	UTSW	15	100675322	critical splice donor site	probably null
R2358:Cela1	UTSW	15	100681228	missense	probably benign
R3968:Cela1	UTSW	15	100684653	missense	probably damaging	1.00
R4236:Cela1	UTSW	15	100682913	missense	probably damaging	1.00
R5491:Cela1	UTSW	15	100682980	missense	probably damaging	1.00
R6140:Cela1	UTSW	15	100681156	missense	probably benign	0.01
R7057:Cela1	UTSW	15	100682893	missense	possibly damaging	0.90
R7536:Cela1	UTSW	15	100675364	missense	probably damaging	1.00
R8152:Cela1	UTSW	15	100682941	missense	probably benign
R8500:Cela1	UTSW	15	100675332	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACTCCCACCTCAGTCTTG -3'
(R):5'- GCACAGATGACTCAGAACTGGC -3'

Sequencing Primer
(F):5'- TCTAGAATTAGACAGCAAGTGAGC -3'
(R):5'- GAACTGGCCCCTCAGTGTTTTG -3'

Posted On

2018-05-04