Incidental Mutation 'IGL02948:Emb'
ID364860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Nameembigin
SynonymsGp70
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02948
Quality Score
Status
Chromosome13
Chromosomal Location117208536-117274415 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) C to A at 117273066 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
Predicted Effect probably benign
Transcript: ENSMUST00000022242
SMART Domains Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728

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
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Clec7a A C 6: 129,465,478 D195E possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Fbxw2 T C 2: 34,805,711 *455W probably null Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Nars A G 18: 64,505,195 C266R possibly damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Strip1 T C 3: 107,613,266 R823G probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tmem104 G T 11: 115,197,296 A36S probably damaging Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T 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
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
R5949:Emb UTSW 13 117267392 missense probably benign 0.13
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
Posted On2015-12-18