Incidental Mutation 'IGL01613:Emb'
ID 92275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Name embigin
Synonyms Gp70
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL01613
Quality Score
Status
Chromosome 13
Chromosomal Location 117208536-117274415 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117272078 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 318 (N318K)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
AlphaFold P21995
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
R9314:Emb UTSW 13 117272068 missense probably damaging 1.00
R9364:Emb UTSW 13 117220560 intron probably benign
R9366:Emb UTSW 13 117220560 intron probably benign
R9368:Emb UTSW 13 117220560 intron probably benign
R9369:Emb UTSW 13 117220560 intron probably benign
R9381:Emb UTSW 13 117220560 intron probably benign
Posted On 2013-12-09