Incidental Mutation 'R6330:Emb'
ID 533169
Institutional Source Beutler Lab
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Name embigin
Synonyms Gp70
MMRRC Submission 044484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6330 (G1)
Quality Score 143.008
Status Validated
Chromosome 13
Chromosomal Location 117357109-117410951 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 117385666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242] [ENSMUST00000225981]
AlphaFold P21995
Predicted Effect probably null
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
Predicted Effect probably null
Transcript: ENSMUST00000225981
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T A 16: 88,423,939 (GRCm39) H184L probably benign Het
Ccar1 A G 10: 62,600,312 (GRCm39) Y540H probably damaging Het
Celf2 A G 2: 6,889,766 (GRCm39) F2L probably benign Het
Cfap57 T C 4: 118,426,593 (GRCm39) I1119V probably benign Het
Clec4f T C 6: 83,629,850 (GRCm39) Q236R probably damaging Het
Cstdc2 G T 2: 148,692,745 (GRCm39) A19D probably damaging Het
Cyp4a31 C T 4: 115,421,074 (GRCm39) P54L probably damaging Het
Dapk1 T C 13: 60,909,140 (GRCm39) V1251A probably benign Het
Dnah7b G A 1: 46,379,335 (GRCm39) V3690M probably damaging Het
Dock9 A T 14: 121,842,655 (GRCm39) M1K probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
F7 C T 8: 13,085,140 (GRCm39) H389Y probably damaging Het
Fam111a T A 19: 12,564,266 (GRCm39) I49K probably damaging Het
Fam50b T G 13: 34,930,652 (GRCm39) S43A probably benign Het
Gbp7 A T 3: 142,252,259 (GRCm39) Y614F probably benign Het
Gli3 T A 13: 15,899,317 (GRCm39) D901E probably damaging Het
Hhatl C T 9: 121,617,291 (GRCm39) probably null Het
Idua T A 5: 108,829,574 (GRCm39) L432H probably benign Het
Ighv10-3 T A 12: 114,487,086 (GRCm39) T112S possibly damaging Het
Kcnj6 T A 16: 94,563,460 (GRCm39) D346V possibly damaging Het
Lrba A G 3: 86,255,664 (GRCm39) D1002G probably benign Het
Lrrd1 T A 5: 3,900,629 (GRCm39) S311R probably damaging Het
Mafk A G 5: 139,784,948 (GRCm39) N4S probably benign Het
Mfsd14b T C 13: 65,243,500 (GRCm39) Y48C probably damaging Het
Mindy3 C T 2: 12,361,744 (GRCm39) A333T probably damaging Het
Mlxip G A 5: 123,533,015 (GRCm39) C8Y probably benign Het
Mthfd1l A T 10: 3,930,234 (GRCm39) M110L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Or14j7 T C 17: 38,234,685 (GRCm39) V76A possibly damaging Het
Or1af1 A T 2: 37,110,136 (GRCm39) I212F probably benign Het
Orc2 C A 1: 58,539,493 (GRCm39) V49L probably benign Het
Pfkp C T 13: 6,635,286 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,373,541 (GRCm39) F1359S probably benign Het
Ralgps1 A T 2: 33,064,455 (GRCm39) I222N probably damaging Het
Rrad T G 8: 105,356,492 (GRCm39) E136A probably benign Het
Serpine3 T C 14: 62,902,430 (GRCm39) S14P probably benign Het
Slc2a12 A G 10: 22,540,894 (GRCm39) T250A probably benign Het
Slc4a5 T G 6: 83,203,356 (GRCm39) F85L probably benign Het
Stx18 T A 5: 38,284,261 (GRCm39) probably null Het
Tbcd T C 11: 121,387,912 (GRCm39) S348P probably benign Het
Usp9y T C Y: 1,340,123 (GRCm39) T1419A probably benign Homo
Vmn2r69 T C 7: 85,060,835 (GRCm39) S250G probably benign Het
Vmn2r86 A G 10: 130,282,396 (GRCm39) V740A probably benign Het
Vwa5b2 T A 16: 20,420,727 (GRCm39) I846N probably damaging Het
Zfp74 A T 7: 29,637,412 (GRCm39) Y33N probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging 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
R5949:Emb UTSW 13 117,403,928 (GRCm39) missense probably benign 0.13
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'- CGAAGAGCATTAAGTATCTGTAGCTG -3'
(R):5'- TCCACATGAGAAGGCTTTTCC -3'

Sequencing Primer
(F):5'- AGCATTAAGTATCTGTAGCTGTGGGC -3'
(R):5'- CATGAGAAGGCTTTTCCAAAATTACG -3'
Posted On 2018-09-06