Incidental Mutation 'IGL01613:Emb'
ID92275
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: 0.084) question?
Stock #IGL01613
Quality Score
Status
Chromosome13
Chromosomal Location117208536-117274415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 117272078 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 318 (N318K)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
Predicted Effect probably damaging
Transcript: ENSMUST00000022242
AA Change: N318K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: N318K

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Emb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Emb APN 13 117268930 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
R5949:Emb UTSW 13 117267392 missense probably benign 0.13
R6330:Emb UTSW 13 117249130 splice site 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
Posted On2013-12-09