Incidental Mutation 'R3896:Emb'
ID 310557
Institutional Source Beutler Lab
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Name embigin
Synonyms Gp70
MMRRC Submission 040807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R3896 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 117357109-117410951 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 117409598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 331 (*331W)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
AlphaFold P21995
Predicted Effect probably null
Transcript: ENSMUST00000022242
AA Change: *331W
SMART Domains Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: *331W

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
Meta Mutation Damage Score 0.8523 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,356,868 (GRCm39) N13K possibly damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Arhgap20 A T 9: 51,728,137 (GRCm39) I117F probably damaging Het
Asz1 A G 6: 18,075,766 (GRCm39) I269T probably benign Het
Atp8a2 C A 14: 60,263,589 (GRCm39) probably null Het
Atp8b2 A T 3: 89,864,626 (GRCm39) I163K probably damaging Het
Casd1 T A 6: 4,640,980 (GRCm39) F700L probably damaging Het
Ccdc80 A G 16: 44,916,984 (GRCm39) D580G probably benign Het
Cog7 C T 7: 121,540,392 (GRCm39) probably benign Het
Cyp2c66 T C 19: 39,130,722 (GRCm39) V112A possibly damaging Het
D130040H23Rik T A 8: 69,755,610 (GRCm39) C356S probably damaging Het
Enpp3 A C 10: 24,653,847 (GRCm39) S703R possibly damaging Het
Fam13b T C 18: 34,596,008 (GRCm39) probably benign Het
Foxp1 T A 6: 99,052,897 (GRCm39) Q97L probably benign Het
Gdf10 A T 14: 33,656,438 (GRCm39) N467Y probably damaging Het
Gm29394 C T 15: 57,912,024 (GRCm39) probably benign Het
Gsn T C 2: 35,192,650 (GRCm39) S522P possibly damaging Het
Hydin T A 8: 111,235,711 (GRCm39) F1899I possibly damaging Het
Ints1 C A 5: 139,743,399 (GRCm39) E1658* probably null Het
Jakmip2 A T 18: 43,682,751 (GRCm39) F691Y probably benign Het
Klhl28 A G 12: 65,004,333 (GRCm39) F60S probably damaging Het
Loxhd1 C T 18: 77,469,719 (GRCm39) S992L possibly damaging Het
Lrp1b A T 2: 40,812,440 (GRCm39) probably null Het
Macf1 A T 4: 123,364,987 (GRCm39) I3258N possibly damaging Het
Map4k2 G T 19: 6,391,958 (GRCm39) E91* probably null Het
Matcap1 T A 8: 106,009,920 (GRCm39) H343L probably benign Het
Myo1b A T 1: 51,812,420 (GRCm39) V739E probably damaging Het
Naa35 C T 13: 59,755,109 (GRCm39) T185I probably damaging Het
Or10v9 T C 19: 11,832,951 (GRCm39) D122G probably damaging Het
Or4c15b A G 2: 89,113,441 (GRCm39) F33S possibly damaging Het
Reg4 A T 3: 98,132,082 (GRCm39) probably benign Het
Rnaseh2b A C 14: 62,597,906 (GRCm39) probably benign Het
Rnf123 G A 9: 107,946,302 (GRCm39) probably benign Het
Scn8a A T 15: 100,933,379 (GRCm39) M1528L probably benign Het
Sdr16c5 T A 4: 4,006,609 (GRCm39) T228S probably damaging Het
Sgo2a T C 1: 58,052,805 (GRCm39) C202R probably damaging Het
Slc25a46 A G 18: 31,716,725 (GRCm39) L259P probably damaging Het
Slc4a4 A G 5: 89,345,625 (GRCm39) probably benign Het
Sox14 G T 9: 99,757,636 (GRCm39) H34Q probably damaging Het
Syna T A 5: 134,587,165 (GRCm39) K595* probably null Het
Taf4 A G 2: 179,573,807 (GRCm39) V687A probably benign Het
Tmbim7 C T 5: 3,711,916 (GRCm39) H54Y probably benign Het
Vmn1r212 T C 13: 23,068,067 (GRCm39) M89V probably benign Het
Vmn1r86 T C 7: 12,836,093 (GRCm39) Y261C probably benign Het
Xkr4 A G 1: 3,286,414 (GRCm39) I592T probably damaging Het
Ywhah A G 5: 33,184,349 (GRCm39) Y184C probably damaging Het
Zkscan16 C T 4: 58,946,125 (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
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
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'- GTATACATTTTCTCCCTTGGGCTAG -3'
(R):5'- CAGCTGAAACAATTGACCTTGC -3'

Sequencing Primer
(F):5'- TGAATTCATCCACCATAGCAAACTTC -3'
(R):5'- GAAACAATTGACCTTGCTTTAATGG -3'
Posted On 2015-04-17