Mutagenetix > Incidental Mutations

Incidental Mutation 'R2471:Emcn'

253075

Institutional Source

Beutler Lab

Gene Symbol

Emcn

Ensembl Gene

ENSMUSG00000054690

Gene Name

endomucin

Synonyms

0610012K22Rik

MMRRC Submission

040403-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137341067-137432185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137404011 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 138 (T138M)

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: T138M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: T138M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128985

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197511
AA Change: T100M

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: T100M

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: 98.7%
10x: 97.5%
20x: 95.5%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,980,863	M390K	probably benign	Het
Bicra	A	G	7: 15,972,332	S1395P	probably benign	Het
Cacnb2	G	A	2: 14,984,314	D402N	probably damaging	Het
Csmd1	T	A	8: 16,211,762	D907V	probably damaging	Het
Cstl1	T	A	2: 148,751,121	Y65*	probably null	Het
Dnajc1	T	C	2: 18,219,816	I213V	possibly damaging	Het
F3	G	T	3: 121,725,040	W51L	probably damaging	Het
Far2	A	G	6: 148,138,694	Y41C	probably damaging	Het
Flrt1	A	T	19: 7,096,491	D230E	probably damaging	Het
Gimap7	G	A	6: 48,724,052	V191M	probably damaging	Het
Gm19402	A	T	10: 77,690,520		probably benign	Het
Ipo5	A	C	14: 120,922,162	K134T	probably benign	Het
Kcnf1	T	C	12: 17,175,530	E230G	probably damaging	Het
Mad1l1	T	C	5: 140,261,552	E340G	probably benign	Het
Map4k5	T	C	12: 69,856,846	I62V	probably benign	Het
March7	A	G	2: 60,236,900	K588R	possibly damaging	Het
Mctp2	T	A	7: 72,161,161	K52*	probably null	Het
Nr1h4	A	T	10: 89,473,894	F310L	probably damaging	Het
Ofcc1	G	A	13: 40,097,025	S605F	probably damaging	Het
Olfr1369-ps1	A	T	13: 21,116,429	T246S	probably damaging	Het
Olfr1447	G	A	19: 12,901,315	T155I	probably benign	Het
Olfr209	A	T	16: 59,361,581	S212R	possibly damaging	Het
Pcdh20	T	G	14: 88,467,236	E876A	probably benign	Het
Plce1	C	T	19: 38,779,926	A2215V	probably damaging	Het
Ptprg	T	C	14: 12,210,327	Y128H	probably damaging	Het
Sigirr	A	G	7: 141,092,597	L204S	probably damaging	Het
Slc2a12	A	T	10: 22,664,807	Y187F	probably damaging	Het
Slc31a2	A	T	4: 62,296,075	R86W	probably null	Het
Smc1b	T	C	15: 85,092,017	K830E	probably damaging	Het
Ssrp1	A	G	2: 85,042,298	N427D	possibly damaging	Het
Taar9	A	T	10: 24,109,391	F48L	probably benign	Het
Taok2	T	C	7: 126,875,100	E319G	probably damaging	Het
Try10	T	C	6: 41,356,746	S142P	probably damaging	Het
Tsc22d1	A	G	14: 76,418,204	T626A	probably benign	Het
Zfp101	T	C	17: 33,380,976	E602G	possibly 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
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
R7137:Emcn	UTSW	3	137403991	missense	probably damaging	0.98
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'- TTGCTCTGAGGTTTCCTACAATCAC -3'
(R):5'- TAGCTCCTCACGTATATCCTGG -3'

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

Posted On

2014-12-04