Mutagenetix > Incidental Mutations

Incidental Mutation 'R7137:Emcn'

553116

Institutional Source

Beutler Lab

Gene Symbol

Emcn

Ensembl Gene

ENSMUSG00000054690

Gene Name

endomucin

Synonyms

0610012K22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137341067-137432185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 137403991 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 131 (N131K)

Ref Sequence

ENSEMBL: ENSMUSP00000112603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119475] [ENSMUST00000122064] [ENSMUST00000197511]

Predicted Effect

probably benign
Transcript: ENSMUST00000119475

SMART Domains

Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690

Domain	Start	End	E-Value	Type
Pfam:Endomucin	1	248	5.2e-135	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122064
AA Change: N131K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: N131K

Domain	Start	End	E-Value	Type
Pfam:Endomucin	1	261	4e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197511
AA Change: N93K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: N93K

Domain	Start	End	E-Value	Type
Pfam:Endomucin	1	92	1.3e-38	PFAM
Pfam:Endomucin	89	219	4.8e-80	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,677,985	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,283,387		probably null	Het
Adgrf5	A	G	17: 43,450,897	K1161R	probably damaging	Het
Arhgap32	T	G	9: 32,151,936	D80E	probably benign	Het
Aspg	T	C	12: 112,112,198	V30A	possibly damaging	Het
Bcl2a1d	T	C	9: 88,731,478	D81G	probably damaging	Het
Cep170b	T	C	12: 112,735,167	V160A	probably benign	Het
Ces1c	T	C	8: 93,130,842	Y37C	probably benign	Het
Cntnap5a	T	C	1: 116,089,376	L233P	probably damaging	Het
Crem	C	A	18: 3,273,459	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,557,821	A280V	probably benign	Het
Dnah2	C	T	11: 69,491,555	G1243D	probably damaging	Het
Fat3	A	T	9: 15,997,148	D2519E	probably damaging	Het
Fibin	T	A	2: 110,362,656	D47V	probably damaging	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Gimap8	C	A	6: 48,650,253	L54I	probably damaging	Het
Gm20481	A	G	17: 34,970,095	Y27C	unknown	Het
Gm21319	A	T	12: 87,773,546	L81Q	possibly damaging	Het
Grin1	T	G	2: 25,313,538	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,765,577	L20P	probably damaging	Het
Insc	G	A	7: 114,811,615	V236I	probably benign	Het
Lrrk1	A	G	7: 66,285,279	F1031L	probably benign	Het
Man2a2	C	A	7: 80,359,751	R785L	probably benign	Het
Mcur1	C	A	13: 43,544,455		probably null	Het
Med12l	A	C	3: 59,258,254	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,282,679	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,323,487	I762V	probably benign	Het
Nfkbid	A	G	7: 30,426,256	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,533,549	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,267,392	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,498,746	E1093D	probably benign	Het
Plcg1	T	C	2: 160,753,926	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,517,264	L139P	probably damaging	Het
Psma1	A	G	7: 114,274,448	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,652,627	E76G	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Pyy	T	G	11: 102,107,273	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,584,341	T21A	probably benign	Het
Slc25a2	T	C	18: 37,638,147	I110V	probably benign	Het
Sult1c2	A	C	17: 53,838,394	W85G	probably damaging	Het
Svs1	A	G	6: 48,990,149	Y677C	probably damaging	Het
Syt12	C	T	19: 4,453,950	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616	V1462M	probably damaging	Het
Tor1aip2	T	A	1: 156,051,976	N33K	possibly damaging	Het
Usp17lb	C	A	7: 104,841,591	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,930,685	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,038,212		probably benign	Het
Wrnip1	A	G	13: 32,802,749	D171G	probably benign	Het
Zar1	T	A	5: 72,580,816	N81I	probably damaging	Het
Zbtb45	T	C	7: 13,007,156	T392A	probably benign	Het
Zfp445	T	C	9: 122,854,778	E272G	probably damaging	Het

Other mutations in Emcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Emcn	APN	3	137379877	missense	probably benign	0.11
IGL02250:Emcn	APN	3	137418986	splice site	probably benign
IGL03035:Emcn	APN	3	137372851	critical splice donor site	probably null
R0101:Emcn	UTSW	3	137341240	start codon destroyed	possibly damaging	0.51
R0180:Emcn	UTSW	3	137418994	critical splice acceptor site	probably null
R0329:Emcn	UTSW	3	137416814	splice site	probably benign
R0348:Emcn	UTSW	3	137372847	nonsense	probably null
R1475:Emcn	UTSW	3	137379907	missense	possibly damaging	0.92
R2224:Emcn	UTSW	3	137404017	missense	possibly damaging	0.93
R2226:Emcn	UTSW	3	137404017	missense	possibly damaging	0.93
R2227:Emcn	UTSW	3	137404017	missense	possibly damaging	0.93
R2471:Emcn	UTSW	3	137404011	missense	probably damaging	1.00
R4057:Emcn	UTSW	3	137379899	missense	probably damaging	0.98
R4456:Emcn	UTSW	3	137379847	nonsense	probably null
R4823:Emcn	UTSW	3	137423426	missense	probably damaging	1.00
R5043:Emcn	UTSW	3	137391601	missense	possibly damaging	0.95
R5326:Emcn	UTSW	3	137379877	missense	probably benign	0.11
R5542:Emcn	UTSW	3	137379877	missense	probably benign	0.11
R6925:Emcn	UTSW	3	137419002	missense	probably damaging	0.99
R7148:Emcn	UTSW	3	137417094	missense	possibly damaging	0.95
R7265:Emcn	UTSW	3	137417078	missense	probably damaging	0.97
R7265:Emcn	UTSW	3	137419076	missense	probably damaging	0.99
R8243:Emcn	UTSW	3	137391650	missense	possibly damaging	0.92
R8436:Emcn	UTSW	3	137423467	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GACAATGTCATGGTGAAAATGTTGC -3'
(R):5'- TCAGCCTTTTAAACTCAAAGCC -3'

Sequencing Primer
(F):5'- CAAGTTAATTGATTCTTGCTCTGAGG -3'
(R):5'- CAAAGCCTCCTGATATTTAGTTGTC -3'

Posted On

2019-05-15