Mutagenetix > Incidental Mutation

Incidental Mutation 'R7265:Emcn'

564853

Institutional Source

Beutler Lab

Gene Symbol

Emcn

Ensembl Gene

ENSMUSG00000054690

Gene Name

endomucin

Synonyms

0610012K22Rik

MMRRC Submission

045355-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137046824-137136830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137122839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 183 (S183P)

Ref Sequence

ENSEMBL: ENSMUSP00000112603 (fasta)

Gene Model

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

AlphaFold

Q9R0H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119475
AA Change: S170P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: S170P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122064
AA Change: S183P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: S183P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197511
AA Change: S145P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: S145P

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb3	A	G	11: 30,948,495 (GRCm39)	E57G	probably benign	Het
B3glct	A	G	5: 149,632,785 (GRCm39)	D45G	probably benign	Het
BC034090	C	A	1: 155,101,073 (GRCm39)	C397F	probably damaging	Het
Bicd1	A	G	6: 149,415,374 (GRCm39)	K696E	probably damaging	Het
Btnl4	C	T	17: 34,694,868 (GRCm39)	C15Y	probably benign	Het
Cabin1	T	C	10: 75,557,257 (GRCm39)	N300S		Het
Chia1	T	A	3: 106,036,239 (GRCm39)	L273Q	probably damaging	Het
Coq2	A	G	5: 100,808,136 (GRCm39)	S222P	possibly damaging	Het
Dgkb	T	C	12: 38,234,931 (GRCm39)	V432A	possibly damaging	Het
Dpp3	A	G	19: 4,973,797 (GRCm39)	F92S	probably damaging	Het
Elapor2	T	C	5: 9,496,975 (GRCm39)	V813A	possibly damaging	Het
Enpp2	A	C	15: 54,773,429 (GRCm39)		probably null	Het
Epb41	T	C	4: 131,695,145 (GRCm39)	E14G	unknown	Het
Fhip1b	G	T	7: 105,033,432 (GRCm39)	R609S	probably benign	Het
Grk4	A	G	5: 34,873,608 (GRCm39)	R225G	probably damaging	Het
Insl6	A	T	19: 29,298,945 (GRCm39)	W156R	possibly damaging	Het
Ints3	A	T	3: 90,311,290 (GRCm39)		probably null	Het
Jarid2	G	A	13: 45,055,748 (GRCm39)	G318D	probably benign	Het
Kif16b	A	T	2: 142,556,650 (GRCm39)	L596H	probably damaging	Het
Lctl	T	A	9: 64,034,203 (GRCm39)	Y281N	probably damaging	Het
Letm1	A	T	5: 33,935,992 (GRCm39)	C34S	possibly damaging	Het
Lrrc32	T	C	7: 98,148,644 (GRCm39)	S475P	probably damaging	Het
Lrrc37a	T	A	11: 103,389,767 (GRCm39)	D1886V	probably benign	Het
Macf1	A	T	4: 123,301,670 (GRCm39)	I944K	probably benign	Het
Mark4	T	C	7: 19,185,650 (GRCm39)	D28G	probably benign	Het
Mecom	C	A	3: 30,034,282 (GRCm39)	A465S	possibly damaging	Het
Muc16	A	G	9: 18,567,768 (GRCm39)	S1584P	unknown	Het
Mycbp2	A	G	14: 103,434,679 (GRCm39)		probably null	Het
Myo18b	G	A	5: 112,959,938 (GRCm39)	R1372W	probably damaging	Het
Myo1c	T	C	11: 75,560,616 (GRCm39)	I706T	possibly damaging	Het
Myo1g	T	C	11: 6,460,933 (GRCm39)	T704A	possibly damaging	Het
Nwd1	A	G	8: 73,419,556 (GRCm39)	K914E	probably benign	Het
Or5ac20	T	A	16: 59,104,287 (GRCm39)	D191V	probably damaging	Het
Or8b101	A	T	9: 38,020,227 (GRCm39)	I77L	possibly damaging	Het
Or8k23	C	T	2: 86,186,088 (GRCm39)	V213I	probably benign	Het
Otub2	C	T	12: 103,366,480 (GRCm39)	S99L	probably damaging	Het
Pak5	G	A	2: 135,943,105 (GRCm39)	S345L	probably benign	Het
Pcdhb20	A	T	18: 37,638,616 (GRCm39)	I381F	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,969 (GRCm39)	T659A	probably damaging	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Pik3c2a	T	A	7: 115,987,321 (GRCm39)	K533N	probably damaging	Het
Pkd1l1	T	A	11: 8,879,402 (GRCm39)	Q933L		Het
Ppp4r3a	A	T	12: 101,019,770 (GRCm39)	M395K	possibly damaging	Het
Pramel11	C	A	4: 143,621,991 (GRCm39)	V455L	probably benign	Het
Ptpn20	A	G	14: 33,336,481 (GRCm39)	T107A	probably benign	Het
Scaf8	T	A	17: 3,227,900 (GRCm39)	D376E	unknown	Het
Scn11a	C	A	9: 119,644,331 (GRCm39)	C143F	probably damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Sec13	A	T	6: 113,712,097 (GRCm39)	Y79*	probably null	Het
Sez6	T	A	11: 77,853,691 (GRCm39)	I287N	probably damaging	Het
Slc52a3	T	A	2: 151,846,336 (GRCm39)	I99K	possibly damaging	Het
Slco4c1	T	G	1: 96,799,518 (GRCm39)	H106P	probably damaging	Het
Tada2b	A	G	5: 36,633,952 (GRCm39)	Y209H	probably damaging	Het
Tas1r2	T	A	4: 139,396,963 (GRCm39)	D796E	probably benign	Het
Tdrd12	A	T	7: 35,187,147 (GRCm39)	M581K		Het
Thnsl1	A	G	2: 21,217,269 (GRCm39)	E341G	probably damaging	Het
Tlk2	C	T	11: 105,075,070 (GRCm39)	R11*	probably null	Het
Tmco6	T	C	18: 36,872,396 (GRCm39)		probably null	Het
Trmt44	A	T	5: 35,721,647 (GRCm39)	H505Q	probably benign	Het
Trpc1	T	C	9: 95,590,328 (GRCm39)	M710V	probably benign	Het
Ttc21b	T	C	2: 66,040,517 (GRCm39)	E858G	possibly damaging	Het
Twsg1	C	T	17: 66,236,782 (GRCm39)	D83N	possibly damaging	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Vmn2r6	T	C	3: 64,464,195 (GRCm39)	N213S	probably benign	Het
Vmn2r88	G	A	14: 51,655,776 (GRCm39)	V662I		Het
Zfp414	C	A	17: 33,850,253 (GRCm39)	D217E	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
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
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
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'- CATGTCACTGCTTCAAGGTATG -3'
(R):5'- CTTCAATCAGGCTGTAGTTTGG -3'

Sequencing Primer
(F):5'- TGAAACATACTCTTGCAGGGTG -3'
(R):5'- GGTTATAATGGAGTTACATGCTGAG -3'

Posted On

2019-06-26