Mutagenetix > Incidental Mutation

Incidental Mutation 'R2224:Emcn'

241534

Institutional Source

Beutler Lab

Gene Symbol

Emcn

Ensembl Gene

ENSMUSG00000054690

Gene Name

endomucin

Synonyms

0610012K22Rik

MMRRC Submission

040225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137046824-137136830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137109778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 140 (I140T)

Ref Sequence

ENSEMBL: ENSMUSP00000112603 (fasta)

Gene Model

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

AlphaFold

Q9R0H2

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

possibly damaging
Transcript: ENSMUST00000122064
AA Change: I140T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: I140T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128985

Predicted Effect

probably benign
Transcript: ENSMUST00000197511
AA Change: I102T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: I102T

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	G	16: 14,289,932 (GRCm39)	L1416R	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Ahnak	G	A	19: 8,990,355 (GRCm39)		probably benign	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Arsb	T	A	13: 93,930,679 (GRCm39)	F216I	probably damaging	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Brinp3	C	T	1: 146,777,658 (GRCm39)	Q702*	probably null	Het
Btbd9	C	A	17: 30,746,320 (GRCm39)	A169S	probably damaging	Het
Cacna1h	T	C	17: 25,604,917 (GRCm39)	N1132S	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep250	A	C	2: 155,833,737 (GRCm39)	E1886D	possibly damaging	Het
Chd9	A	C	8: 91,737,913 (GRCm39)	H1515P	probably benign	Het
Cyp2c68	A	G	19: 39,724,026 (GRCm39)	C213R	probably benign	Het
Ddx41	G	A	13: 55,679,214 (GRCm39)	T544I	probably damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Eea1	T	A	10: 95,855,874 (GRCm39)	V637D	probably damaging	Het
Exo1	A	G	1: 175,714,254 (GRCm39)		probably null	Het
Fbxo21	T	G	5: 118,146,188 (GRCm39)	Y597D	probably damaging	Het
Fbxw20	G	C	9: 109,062,650 (GRCm39)	Q59E	possibly damaging	Het
Fpr3	T	A	17: 18,191,455 (GRCm39)	V242D	probably damaging	Het
Fyb1	A	G	15: 6,681,864 (GRCm39)	Y737C	probably damaging	Het
Gm17661	GG	GGG	2: 90,748,052 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Il17f	A	G	1: 20,849,599 (GRCm39)	V55A	probably damaging	Het
Inpp1	T	A	1: 52,829,290 (GRCm39)	E243V	probably benign	Het
Leap2	A	G	11: 53,313,634 (GRCm39)	L46P	probably damaging	Het
Map4k3	A	T	17: 80,937,883 (GRCm39)	D339E	probably benign	Het
Met	A	G	6: 17,563,721 (GRCm39)		probably null	Het
Mgam	G	T	6: 40,741,208 (GRCm39)		probably null	Het
Mrgpra1	A	G	7: 46,984,854 (GRCm39)	V275A	possibly damaging	Het
Mrgprx2	T	A	7: 48,132,608 (GRCm39)	Q70L	probably benign	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Mup18	G	T	4: 61,590,128 (GRCm39)	F133L	possibly damaging	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nin	A	T	12: 70,108,004 (GRCm39)	I196N	probably damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Odc1	A	G	12: 17,597,336 (GRCm39)	I13V	probably benign	Het
Or1ad1	T	C	11: 50,876,059 (GRCm39)	F177S	probably damaging	Het
Or4a67	A	T	2: 88,597,930 (GRCm39)	M243K	possibly damaging	Het
Or5m12	T	A	2: 85,735,099 (GRCm39)	I100F	probably benign	Het
Pard3	A	G	8: 128,086,257 (GRCm39)	I286V	probably damaging	Het
Pcx	T	C	19: 4,668,026 (GRCm39)	I516T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm39)	R1081L	probably benign	Het
Prpf40b	C	T	15: 99,201,172 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,438,854 (GRCm39)		probably benign	Het
Saxo5	A	G	8: 3,529,249 (GRCm39)	T245A	probably benign	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Sirt2	A	G	7: 28,471,637 (GRCm39)		probably null	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tsbp1	C	A	17: 34,667,737 (GRCm39)		probably null	Het
Uqcrc2	T	A	7: 120,240,937 (GRCm39)	V73E	probably damaging	Het
Vmn2r100	A	G	17: 19,742,634 (GRCm39)	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,701,295 (GRCm39)	Y68*	probably null	Het
Zbtb4	C	T	11: 69,667,184 (GRCm39)	T163I	probably benign	Het

Other mutations in Emcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Emcn	APN	3	137,085,638 (GRCm39)	missense	probably benign	0.11
IGL02250:Emcn	APN	3	137,124,747 (GRCm39)	splice site	probably benign
IGL03035:Emcn	APN	3	137,078,612 (GRCm39)	critical splice donor site	probably null
R0101:Emcn	UTSW	3	137,047,001 (GRCm39)	start codon destroyed	possibly damaging	0.51
R0180:Emcn	UTSW	3	137,124,755 (GRCm39)	critical splice acceptor site	probably null
R0329:Emcn	UTSW	3	137,122,575 (GRCm39)	splice site	probably benign
R0348:Emcn	UTSW	3	137,078,608 (GRCm39)	nonsense	probably null
R1475:Emcn	UTSW	3	137,085,668 (GRCm39)	missense	possibly damaging	0.92
R2226:Emcn	UTSW	3	137,109,778 (GRCm39)	missense	possibly damaging	0.93
R2227:Emcn	UTSW	3	137,109,778 (GRCm39)	missense	possibly damaging	0.93
R2471:Emcn	UTSW	3	137,109,772 (GRCm39)	missense	probably damaging	1.00
R4057:Emcn	UTSW	3	137,085,660 (GRCm39)	missense	probably damaging	0.98
R4456:Emcn	UTSW	3	137,085,608 (GRCm39)	nonsense	probably null
R4823:Emcn	UTSW	3	137,129,187 (GRCm39)	missense	probably damaging	1.00
R5043:Emcn	UTSW	3	137,097,362 (GRCm39)	missense	possibly damaging	0.95
R5326:Emcn	UTSW	3	137,085,638 (GRCm39)	missense	probably benign	0.11
R5542:Emcn	UTSW	3	137,085,638 (GRCm39)	missense	probably benign	0.11
R6925:Emcn	UTSW	3	137,124,763 (GRCm39)	missense	probably damaging	0.99
R7137:Emcn	UTSW	3	137,109,752 (GRCm39)	missense	probably damaging	0.98
R7148:Emcn	UTSW	3	137,122,855 (GRCm39)	missense	possibly damaging	0.95
R7265:Emcn	UTSW	3	137,124,837 (GRCm39)	missense	probably damaging	0.99
R7265:Emcn	UTSW	3	137,122,839 (GRCm39)	missense	probably damaging	0.97
R8243:Emcn	UTSW	3	137,097,411 (GRCm39)	missense	possibly damaging	0.92
R8436:Emcn	UTSW	3	137,129,228 (GRCm39)	missense	possibly damaging	0.95
R9009:Emcn	UTSW	3	137,124,775 (GRCm39)	missense	possibly damaging	0.92
R9214:Emcn	UTSW	3	137,047,029 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGCTCTGAGGTTTCCTACAATC -3'
(R):5'- TAGCTCCTCACGTATATCCTGG -3'

Sequencing Primer
(F):5'- CTCTGAGGTTTCCTACAATCACAAAG -3'
(R):5'- ATCCTGGATATTTCTAGTTTCAGCC -3'

Posted On

2014-10-15