Incidental Mutation 'R5949:Emb'
ID 472349
Institutional Source Beutler Lab
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Name embigin
Synonyms Gp70
MMRRC Submission 044139-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R5949 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 117357109-117410951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117403928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 227 (I227V)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
AlphaFold P21995
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: 121,655,032 (GRCm39) Y1452C probably damaging Het
Adcy10 A T 1: 165,367,386 (GRCm39) H552L possibly damaging Het
Alms1-ps1 A T 6: 85,698,943 (GRCm39) noncoding transcript Het
Arhgap21 A G 2: 20,853,852 (GRCm39) S1837P probably damaging Het
Atad5 G T 11: 79,986,835 (GRCm39) E641* probably null Het
Atp8b4 T A 2: 126,247,242 (GRCm39) T276S probably benign Het
Bptf A G 11: 107,001,915 (GRCm39) I399T probably damaging Het
Carf A C 1: 60,178,472 (GRCm39) K295T probably damaging Het
Cd209d T A 8: 3,927,949 (GRCm39) N52Y possibly damaging Het
Cdh2 T A 18: 16,734,687 (GRCm39) I779F probably damaging Het
Cdon G A 9: 35,398,247 (GRCm39) R988H probably benign Het
Cfhr4 A T 1: 139,660,887 (GRCm39) H600Q probably damaging Het
Cic C T 7: 24,971,730 (GRCm39) T487M probably damaging Het
Dcps A G 9: 35,036,557 (GRCm39) probably benign Het
Ddx41 A G 13: 55,679,874 (GRCm39) C427R probably damaging Het
Diras2 T C 13: 52,661,747 (GRCm39) K187E possibly damaging Het
Fam193a T A 5: 34,597,816 (GRCm39) S538T possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Galnt6 A T 15: 100,594,431 (GRCm39) N533K probably damaging Het
Grip1 A G 10: 119,886,147 (GRCm39) D499G probably benign Het
Ifih1 T C 2: 62,440,904 (GRCm39) N421D probably benign Het
Ifng G C 10: 118,278,529 (GRCm39) M63I probably benign Het
Ighv1-43 A G 12: 114,910,002 (GRCm39) M1T probably null Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Krt87 A T 15: 101,385,476 (GRCm39) C299S probably damaging Het
Lrrn1 G T 6: 107,544,465 (GRCm39) V88L probably benign Het
Mapkapk2 A G 1: 130,985,742 (GRCm39) V173A possibly damaging Het
Mrap2 T G 9: 87,064,658 (GRCm39) V133G probably benign Het
Nlrp1a T A 11: 70,989,815 (GRCm39) D984V probably damaging Het
Or4c125 A G 2: 89,170,229 (GRCm39) V139A probably damaging Het
Or5p59 T C 7: 107,703,404 (GRCm39) L296P probably damaging Het
Pcdh17 T C 14: 84,684,996 (GRCm39) Y488H probably damaging Het
Pih1d2 C T 9: 50,536,284 (GRCm39) P313L probably damaging Het
Ralgapb T C 2: 158,296,179 (GRCm39) C839R probably damaging Het
Rdh5 C A 10: 128,754,136 (GRCm39) R29L probably benign Het
Rfx6 A G 10: 51,554,429 (GRCm39) D90G probably benign Het
Rnf213 A G 11: 119,333,905 (GRCm39) Y3038C probably damaging Het
Sec14l2 A T 11: 4,058,972 (GRCm39) V191D probably damaging Het
Slc3a2 T C 19: 8,690,759 (GRCm39) Y118C probably damaging Het
Sorbs2 T C 8: 46,222,934 (GRCm39) probably null Het
Stab2 A G 10: 86,805,713 (GRCm39) L211P possibly damaging Het
Tbc1d9b T C 11: 50,038,876 (GRCm39) C289R probably benign Het
Tfpi T C 2: 84,275,092 (GRCm39) E172G probably benign Het
Tmem106b T A 6: 13,083,418 (GRCm39) M229K probably damaging Het
Tsfm G A 10: 126,864,244 (GRCm39) T157M probably damaging Het
Tshr G A 12: 91,503,992 (GRCm39) R310H probably damaging Het
Ttn G A 2: 76,608,244 (GRCm39) A17893V possibly damaging Het
Vps39 A G 2: 120,159,149 (GRCm39) Y380H probably benign Het
Xylt2 G A 11: 94,559,309 (GRCm39) R383C probably damaging Het
Zfp719 C T 7: 43,233,541 (GRCm39) probably benign Het
Other mutations in Emb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Emb APN 13 117,405,466 (GRCm39) missense probably damaging 1.00
IGL01613:Emb APN 13 117,408,614 (GRCm39) missense probably damaging 1.00
IGL01780:Emb APN 13 117,386,007 (GRCm39) unclassified probably benign
IGL02187:Emb APN 13 117,405,507 (GRCm39) splice site probably benign
IGL02350:Emb APN 13 117,386,007 (GRCm39) unclassified probably benign
IGL02357:Emb APN 13 117,386,007 (GRCm39) unclassified probably benign
IGL02728:Emb APN 13 117,369,301 (GRCm39) missense probably benign 0.39
IGL02948:Emb APN 13 117,409,602 (GRCm39) utr 3 prime probably benign
R0098:Emb UTSW 13 117,404,034 (GRCm39) missense probably damaging 1.00
R0098:Emb UTSW 13 117,404,034 (GRCm39) missense probably damaging 1.00
R0540:Emb UTSW 13 117,369,286 (GRCm39) missense possibly damaging 0.81
R0607:Emb UTSW 13 117,369,286 (GRCm39) missense possibly damaging 0.81
R1421:Emb UTSW 13 117,408,624 (GRCm39) missense probably benign 0.00
R1749:Emb UTSW 13 117,386,242 (GRCm39) missense possibly damaging 0.62
R2129:Emb UTSW 13 117,404,082 (GRCm39) missense probably damaging 1.00
R3896:Emb UTSW 13 117,409,598 (GRCm39) makesense probably null
R4371:Emb UTSW 13 117,405,466 (GRCm39) missense probably damaging 1.00
R4990:Emb UTSW 13 117,401,046 (GRCm39) missense probably damaging 1.00
R5398:Emb UTSW 13 117,404,088 (GRCm39) missense probably damaging 0.97
R6330:Emb UTSW 13 117,385,666 (GRCm39) splice site probably null
R7221:Emb UTSW 13 117,404,013 (GRCm39) missense probably damaging 1.00
R7479:Emb UTSW 13 117,385,962 (GRCm39) missense possibly damaging 0.51
R7548:Emb UTSW 13 117,408,590 (GRCm39) missense possibly damaging 0.94
R7557:Emb UTSW 13 117,386,252 (GRCm39) missense probably benign 0.21
R7605:Emb UTSW 13 117,401,046 (GRCm39) missense probably damaging 1.00
R9314:Emb UTSW 13 117,408,604 (GRCm39) missense probably damaging 1.00
R9364:Emb UTSW 13 117,357,096 (GRCm39) intron probably benign
R9366:Emb UTSW 13 117,357,096 (GRCm39) intron probably benign
R9368:Emb UTSW 13 117,357,096 (GRCm39) intron probably benign
R9369:Emb UTSW 13 117,357,096 (GRCm39) intron probably benign
R9381:Emb UTSW 13 117,357,096 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- AACCCTGCTAGGACTTTAAAGG -3'
(R):5'- GCAGAATGATGGCCACCAAG -3'

Sequencing Primer
(F):5'- ATATGCCCCTTTCTGGTAAATGG -3'
(R):5'- TGGCCACCAAGAGGATGACTTC -3'
Posted On 2017-03-31