Incidental Mutation 'R5043:Emcn'
ID393290
Institutional Source Beutler Lab
Gene Symbol Emcn
Ensembl Gene ENSMUSG00000054690
Gene Nameendomucin
Synonyms0610012K22Rik
MMRRC Submission 042633-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5043 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location137341067-137432185 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137391601 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 94 (T94A)
Ref Sequence ENSEMBL: ENSMUSP00000112603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119475] [ENSMUST00000122064] [ENSMUST00000197511]
Predicted Effect possibly damaging
Transcript: ENSMUST00000119475
AA Change: T94A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: T94A

DomainStartEndE-ValueType
Pfam:Endomucin 1 248 5.2e-135 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122064
AA Change: T94A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: T94A

DomainStartEndE-ValueType
Pfam:Endomucin 1 261 4e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128985
Predicted Effect probably benign
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 0.052 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 98% (44/45)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 145,044,100 Y106* probably null Het
1700061G19Rik A G 17: 56,885,198 Y587C probably damaging Het
Akap12 G C 10: 4,355,047 G619A probably damaging Het
Arhgap29 A G 3: 121,974,004 K32E probably benign Het
Capg T A 6: 72,558,254 Y253* probably null Het
Cntnap3 A T 13: 64,794,348 F189L probably damaging Het
Cp T C 3: 19,973,917 S496P probably benign Het
Cxcl11 T C 5: 92,363,152 probably null Het
Dennd3 T C 15: 73,527,936 L217P probably benign Het
Dip2c G T 13: 9,551,827 R274L possibly damaging Het
Dnah12 C T 14: 26,884,190 S3776L probably damaging Het
Fnip2 A T 3: 79,492,867 Y397* probably null Het
Gabrp T C 11: 33,568,072 N79D probably benign Het
Glmp T G 3: 88,326,676 probably benign Het
Gm12794 T C 4: 101,940,524 F40L possibly damaging Het
Gm5921 C T 9: 115,438,019 noncoding transcript Het
Gm6483 A G 8: 19,693,670 T104A probably benign Het
Ifi206 A T 1: 173,486,718 M52K probably damaging Het
Iqcc T C 4: 129,618,277 probably benign Het
Klra2 T A 6: 131,220,172 H288L probably benign Het
Myo5b T C 18: 74,638,153 probably null Het
Nisch A G 14: 31,176,465 probably benign Het
Nlrp4c A G 7: 6,066,825 N575S probably benign Het
Olfr354 A C 2: 36,906,965 R6S probably benign Het
Olfr913 A G 9: 38,594,841 I207V probably damaging Het
Phlda1 T A 10: 111,507,291 L296Q unknown Het
Rab36 G A 10: 75,051,005 E182K probably benign Het
Rasa3 G A 8: 13,570,368 T767M possibly damaging Het
Serpinb11 G A 1: 107,369,465 V24M probably damaging Het
Slc7a14 T G 3: 31,237,466 N221T probably damaging Het
Smg6 T C 11: 74,929,895 S331P possibly damaging Het
Snx1 C T 9: 66,097,436 A183T probably benign Het
Srpk2 T C 5: 23,524,517 T375A probably benign Het
Tecpr1 T C 5: 144,197,854 probably null Het
Topaz1 A T 9: 122,748,404 E126D probably benign Het
Ugt2b1 C G 5: 86,917,644 C512S possibly damaging Het
Ugt2b37 C T 5: 87,251,860 W263* probably null Het
Utp20 A T 10: 88,798,746 M750K possibly damaging Het
Yeats2 A T 16: 20,208,465 Q822L probably damaging Het
Zfp609 T C 9: 65,700,827 Y1257C probably damaging Het
Other mutations in Emcn
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2471:Emcn UTSW 3 137404011 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCACAGGACACTCTAACGTC -3'
(R):5'- CTTGTAGGGCTGGAAAACATTC -3'

Sequencing Primer
(F):5'- ACAGGACACTCTAACGTCATTCTTTC -3'
(R):5'- TGTAGGGCTGGAAAACATTCTGAAAC -3'
Posted On2016-06-15