Incidental Mutation 'R5949:Emb'
ID472349
Institutional Source Beutler Lab
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Nameembigin
SynonymsGp70
MMRRC Submission 044139-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R5949 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location117208536-117274415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117267392 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 227 (I227V)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
Predicted Effect probably benign
Transcript: ENSMUST00000022242
AA Change: I227V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: I227V

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
IG_like 74 161 3.47e1 SMART
IG 167 258 2.13e-7 SMART
transmembrane domain 267 289 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225648
Meta Mutation Damage Score 0.1141 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 92% (58/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,678,073 Y1452C probably damaging Het
Adcy10 A T 1: 165,539,817 H552L possibly damaging Het
Alms1-ps1 A T 6: 85,721,961 noncoding transcript Het
Arhgap21 A G 2: 20,849,041 S1837P probably damaging Het
Atad5 G T 11: 80,096,009 E641* probably null Het
Atp8b4 T A 2: 126,405,322 T276S probably benign Het
Bptf A G 11: 107,111,089 I399T probably damaging Het
Carf A C 1: 60,139,313 K295T probably damaging Het
Cd209d T A 8: 3,877,949 N52Y possibly damaging Het
Cdh2 T A 18: 16,601,630 I779F probably damaging Het
Cdon G A 9: 35,486,951 R988H probably benign Het
Cic C T 7: 25,272,305 T487M probably damaging Het
Dcps A G 9: 35,125,261 probably benign Het
Ddx41 A G 13: 55,532,061 C427R probably damaging Het
Diras2 T C 13: 52,507,711 K187E possibly damaging Het
Fam193a T A 5: 34,440,472 S538T possibly damaging Het
Fchsd1 C T 18: 37,959,873 probably benign Het
Galnt6 A T 15: 100,696,550 N533K probably damaging Het
Gm4788 A T 1: 139,733,149 H600Q probably damaging Het
Grip1 A G 10: 120,050,242 D499G probably benign Het
Ifih1 T C 2: 62,610,560 N421D probably benign Het
Ifng G C 10: 118,442,624 M63I probably benign Het
Ighv1-43 A G 12: 114,946,382 M1T probably null Het
Kif20a G A 18: 34,632,415 A822T probably benign Het
Krt83 A T 15: 101,487,595 C299S probably damaging Het
Lrrn1 G T 6: 107,567,504 V88L probably benign Het
Mapkapk2 A G 1: 131,058,005 V173A possibly damaging Het
Mrap2 T G 9: 87,182,605 V133G probably benign Het
Nlrp1a T A 11: 71,098,989 D984V probably damaging Het
Olfr1233 A G 2: 89,339,885 V139A probably damaging Het
Olfr483 T C 7: 108,104,197 L296P probably damaging Het
Pcdh17 T C 14: 84,447,556 Y488H probably damaging Het
Pih1d2 C T 9: 50,624,984 P313L probably damaging Het
Ralgapb T C 2: 158,454,259 C839R probably damaging Het
Rdh5 C A 10: 128,918,267 R29L probably benign Het
Rfx6 A G 10: 51,678,333 D90G probably benign Het
Rnf213 A G 11: 119,443,079 Y3038C probably damaging Het
Sec14l2 A T 11: 4,108,972 V191D probably damaging Het
Slc3a2 T C 19: 8,713,395 Y118C probably damaging Het
Sorbs2 T C 8: 45,769,897 probably null Het
Stab2 A G 10: 86,969,849 L211P possibly damaging Het
Tbc1d9b T C 11: 50,148,049 C289R probably benign Het
Tfpi T C 2: 84,444,748 E172G probably benign Het
Tmem106b T A 6: 13,083,419 M229K probably damaging Het
Tsfm G A 10: 127,028,375 T157M probably damaging Het
Tshr G A 12: 91,537,218 R310H probably damaging Het
Ttn G A 2: 76,777,900 A17893V possibly damaging Het
Vps39 A G 2: 120,328,668 Y380H probably benign Het
Xylt2 G A 11: 94,668,483 R383C probably damaging Het
Zfp719 C T 7: 43,584,117 probably benign Het
Other mutations in Emb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Emb APN 13 117268930 missense probably damaging 1.00
IGL01613:Emb APN 13 117272078 missense probably damaging 1.00
IGL01780:Emb APN 13 117249471 unclassified probably benign
IGL02187:Emb APN 13 117268971 splice site probably benign
IGL02350:Emb APN 13 117249471 unclassified probably benign
IGL02357:Emb APN 13 117249471 unclassified probably benign
IGL02728:Emb APN 13 117232765 missense probably benign 0.39
IGL02948:Emb APN 13 117273066 utr 3 prime probably benign
R0098:Emb UTSW 13 117267498 missense probably damaging 1.00
R0098:Emb UTSW 13 117267498 missense probably damaging 1.00
R0540:Emb UTSW 13 117232750 missense possibly damaging 0.81
R0607:Emb UTSW 13 117232750 missense possibly damaging 0.81
R1421:Emb UTSW 13 117272088 missense probably benign 0.00
R1749:Emb UTSW 13 117249706 missense possibly damaging 0.62
R2129:Emb UTSW 13 117267546 missense probably damaging 1.00
R3896:Emb UTSW 13 117273062 makesense probably null
R4371:Emb UTSW 13 117268930 missense probably damaging 1.00
R4990:Emb UTSW 13 117264510 missense probably damaging 1.00
R5398:Emb UTSW 13 117267552 missense probably damaging 0.97
R6330:Emb UTSW 13 117249130 unclassified probably null
R7221:Emb UTSW 13 117267477 missense probably damaging 1.00
R7479:Emb UTSW 13 117249426 missense possibly damaging 0.51
R7548:Emb UTSW 13 117272054 missense possibly damaging 0.94
R7557:Emb UTSW 13 117249716 missense probably benign 0.21
R7605:Emb UTSW 13 117264510 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCCTGCTAGGACTTTAAAGG -3'
(R):5'- GCAGAATGATGGCCACCAAG -3'

Sequencing Primer
(F):5'- ATATGCCCCTTTCTGGTAAATGG -3'
(R):5'- TGGCCACCAAGAGGATGACTTC -3'
Posted On2017-03-31