Mutagenetix > Incidental Mutation

Incidental Mutation 'R2227:Emcn'

239777

Institutional Source

Beutler Lab

Gene Symbol

Emcn

Ensembl Gene

ENSMUSG00000054690

Gene Name

endomucin

Synonyms

0610012K22Rik

MMRRC Submission

040228-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2227 (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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	A	14: 60,325,668 (GRCm39)		probably benign	Het
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably damaging	Het
Agl	A	T	3: 116,581,961 (GRCm39)	V306D	possibly damaging	Het
Alpk2	T	A	18: 65,511,147 (GRCm39)	T17S	probably damaging	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
BB014433	C	A	8: 15,091,717 (GRCm39)	A379S	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Ccl2	G	T	11: 81,927,427 (GRCm39)		probably null	Het
Cct2	T	C	10: 116,888,922 (GRCm39)	R526G	probably null	Het
Cep55	T	C	19: 38,051,082 (GRCm39)	M164T	probably benign	Het
Clec2d	G	A	6: 129,161,214 (GRCm39)	A104T	probably benign	Het
Cyp3a11	A	G	5: 145,805,357 (GRCm39)	L220P	possibly damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Exoc2	T	A	13: 31,048,867 (GRCm39)	I729L	probably benign	Het
Fbxl20	T	C	11: 97,981,675 (GRCm39)	I338V	probably benign	Het
Gucy2c	G	A	6: 136,679,758 (GRCm39)	T943I	probably damaging	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
Il17rb	A	T	14: 29,728,038 (GRCm39)	S56R	probably benign	Het
Knl1	A	G	2: 118,902,481 (GRCm39)	D1394G	probably damaging	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Krt6b	A	G	15: 101,587,557 (GRCm39)	V179A	probably damaging	Het
Lpar5	A	T	6: 125,058,098 (GRCm39)		probably null	Het
Marchf7	A	G	2: 60,060,190 (GRCm39)	R106G	probably benign	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Myl1	T	C	1: 66,983,974 (GRCm39)	K31E	possibly damaging	Het
Myt1l	T	A	12: 29,876,969 (GRCm39)	L207I	unknown	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Pkhd1l1	T	C	15: 44,376,188 (GRCm39)	I950T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm39)	R1081L	probably benign	Het
Rc3h1	T	C	1: 160,791,112 (GRCm39)	I932T	probably benign	Het
Rubcnl	G	A	14: 75,279,832 (GRCm39)	R405Q	probably benign	Het
Saxo5	A	G	8: 3,529,249 (GRCm39)	T245A	probably benign	Het
Sgsm3	A	G	15: 80,888,069 (GRCm39)	E53G	probably damaging	Het
Slco1a8	T	G	6: 141,938,087 (GRCm39)	E277D	possibly damaging	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Thoc2l	T	A	5: 104,667,286 (GRCm39)	Y603N	probably damaging	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn1r86	T	C	7: 12,836,847 (GRCm39)	I10V	probably benign	Het
Xpot	T	C	10: 121,458,765 (GRCm39)	R20G	probably damaging	Het
Zfp735	T	A	11: 73,602,222 (GRCm39)	L389I	possibly damaging	Het
Zfp735	T	G	11: 73,602,223 (GRCm39)	L389*	probably null	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
R2224:Emcn	UTSW	3	137,109,778 (GRCm39)	missense	possibly damaging	0.93
R2226: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'- CCCATGAGTCTATTATCTGGGG -3'
(R):5'- CAAGATTGGCTCTACCTAGCTC -3'

Sequencing Primer
(F):5'- GAGTCTATTATCTGGGGTAACAAATG -3'
(R):5'- AGCTCCTCACGTATATCCTGG -3'

Posted On

2014-10-15