Incidental Mutation 'R0180:Emcn'
ID 23802
Institutional Source Beutler Lab
Gene Symbol Emcn
Ensembl Gene ENSMUSG00000054690
Gene Name endomucin
Synonyms 0610012K22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0180 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 3
Chromosomal Location 137046824-137136830 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 137124755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119475] [ENSMUST00000122064] [ENSMUST00000197511]
AlphaFold Q9R0H2
Predicted Effect probably null
Transcript: ENSMUST00000119475
SMART Domains Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690

DomainStartEndE-ValueType
Pfam:Endomucin 1 248 5.2e-135 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122064
SMART Domains Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690

DomainStartEndE-ValueType
Pfam:Endomucin 1 261 4e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128985
Predicted Effect probably null
Transcript: ENSMUST00000197511
SMART Domains Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690

DomainStartEndE-ValueType
Pfam:Endomucin 1 92 1.3e-38 PFAM
Pfam:Endomucin 89 219 4.8e-80 PFAM
Meta Mutation Damage Score 0.9497 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 89.5%
Validation Efficiency 77% (53/69)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T A 19: 21,630,003 (GRCm39) N24Y probably damaging Het
2810408A11Rik A T 11: 69,789,702 (GRCm39) M311K probably benign Het
Ackr2 T C 9: 121,737,982 (GRCm39) I119T probably benign Het
Adamtsl3 A G 7: 82,225,198 (GRCm39) M336V probably benign Het
Adhfe1 T A 1: 9,634,082 (GRCm39) F374I probably benign Het
Apob C T 12: 8,058,285 (GRCm39) Q2256* probably null Het
Arg1 T C 10: 24,792,728 (GRCm39) I169V probably benign Het
Atxn1 A G 13: 45,711,024 (GRCm39) V636A probably damaging Het
B3gnt5 T A 16: 19,587,850 (GRCm39) I23K possibly damaging Het
Catsperg1 A T 7: 28,889,856 (GRCm39) probably null Het
Celf3 T A 3: 94,392,647 (GRCm39) F115L probably damaging Het
Cep192 T A 18: 67,968,559 (GRCm39) H984Q probably damaging Het
Col18a1 A G 10: 76,932,351 (GRCm39) V493A probably benign Het
Col5a2 C T 1: 45,450,620 (GRCm39) G376S probably damaging Het
Colec12 A G 18: 9,848,890 (GRCm39) H356R probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cracr2a T C 6: 127,581,037 (GRCm39) probably null Het
Ctsr T C 13: 61,310,559 (GRCm39) H62R probably damaging Het
Cyp4f40 G T 17: 32,878,641 (GRCm39) W61L probably benign Het
Dnah9 T G 11: 66,038,116 (GRCm39) H140P probably damaging Het
Dnai7 A G 6: 145,128,944 (GRCm39) probably benign Het
Dnm1 T G 2: 32,218,005 (GRCm39) I464L probably damaging Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Dock1 G A 7: 134,700,566 (GRCm39) D1109N probably damaging Het
Efhc1 A G 1: 21,037,713 (GRCm39) M297V probably benign Het
Ephb1 A T 9: 101,804,703 (GRCm39) M905K probably damaging Het
Fbxw10 A G 11: 62,743,922 (GRCm39) Y276C probably benign Het
Fermt3 C A 19: 6,979,711 (GRCm39) S474I possibly damaging Het
Frg1 T A 8: 41,852,105 (GRCm39) probably null Het
Gbf1 T C 19: 46,274,161 (GRCm39) S1732P probably benign Het
Gbp8 A C 5: 105,179,142 (GRCm39) L119R probably damaging Het
Gldc C T 19: 30,078,217 (GRCm39) A927T possibly damaging Het
Gm8836 T A 6: 70,237,389 (GRCm39) probably benign Het
Grhl3 C T 4: 135,281,841 (GRCm39) V344I probably benign Het
Hhipl1 T A 12: 108,294,329 (GRCm39) L745H probably damaging Het
Ido1 T C 8: 25,083,156 (GRCm39) I90V possibly damaging Het
Itpr2 T A 6: 146,403,407 (GRCm39) probably benign Het
Kif1b T G 4: 149,298,116 (GRCm39) S1029R probably damaging Het
Kmt2a G A 9: 44,738,148 (GRCm39) probably benign Het
Limk1 T C 5: 134,698,115 (GRCm39) N215D probably damaging Het
Lims2 A G 18: 32,089,368 (GRCm39) K144E probably benign Het
Mfsd6l A T 11: 68,447,371 (GRCm39) Q74L possibly damaging Het
Mroh1 T A 15: 76,312,450 (GRCm39) S546T probably damaging Het
Ncbp3 T A 11: 72,955,804 (GRCm39) probably null Het
Nlrx1 G A 9: 44,166,756 (GRCm39) H776Y possibly damaging Het
Nptxr T C 15: 79,678,604 (GRCm39) M228V probably benign Het
Nsf T A 11: 103,821,606 (GRCm39) L13F probably damaging Het
Nyap1 T C 5: 137,736,283 (GRCm39) E68G probably damaging Het
Or10p22 A T 10: 128,826,703 (GRCm39) R307S possibly damaging Het
Or51r1 A G 7: 102,228,239 (GRCm39) Y179C probably damaging Het
Pcdhb9 A G 18: 37,535,307 (GRCm39) N434D probably damaging Het
Pgm5 T C 19: 24,793,127 (GRCm39) D313G probably damaging Het
Pkdcc G A 17: 83,529,299 (GRCm39) probably null Het
Pkp1 T C 1: 135,814,538 (GRCm39) K261R probably benign Het
Pnpla6 A G 8: 3,574,250 (GRCm39) probably null Het
Polr3b A G 10: 84,458,379 (GRCm39) T17A probably benign Het
Ppt2 A T 17: 34,845,477 (GRCm39) M98K probably damaging Het
Rasal3 T C 17: 32,618,379 (GRCm39) D142G probably benign Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Rhbdf1 A T 11: 32,160,042 (GRCm39) V153D possibly damaging Het
Slc6a3 C T 13: 73,710,455 (GRCm39) T355M probably damaging Het
Snrnp35 A T 5: 124,628,883 (GRCm39) probably benign Het
Sorcs2 A T 5: 36,311,189 (GRCm39) I37N probably damaging Het
Tecta G T 9: 42,278,109 (GRCm39) P1133Q probably benign Het
Tmem145 A G 7: 25,014,124 (GRCm39) I413V probably benign Het
Trappc11 G T 8: 47,981,009 (GRCm39) T144K possibly damaging Het
Triml2 A T 8: 43,643,346 (GRCm39) I223L probably benign Het
Ube2g2 T A 10: 77,466,573 (GRCm39) N19K possibly damaging Het
Ubqln3 A G 7: 103,791,047 (GRCm39) Y348H probably damaging Het
Wfs1 A G 5: 37,124,372 (GRCm39) F840L probably damaging Het
Zc3h11a T C 1: 133,549,349 (GRCm39) I771V probably benign Het
Zdhhc23 G A 16: 43,794,066 (GRCm39) P203S probably benign Het
Zfp106 T G 2: 120,364,356 (GRCm39) T684P probably damaging Het
Zfp217 A T 2: 169,962,057 (GRCm39) L90Q probably damaging Het
Other mutations in Emcn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGAAAGCCATCTCTCTGAGGTTTGG -3'
(R):5'- ACAGTTGAAGGTCACAGTCGCAC -3'

Sequencing Primer
(F):5'- GTTACAAGGGTGACATCAAGTG -3'
(R):5'- GGTCACAGTCGCACTAAGC -3'
Posted On 2013-04-16