Incidental Mutation 'R7557:Emb'
ID 584854
Institutional Source Beutler Lab
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Name embigin
Synonyms Gp70
MMRRC Submission 045652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R7557 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 117357109-117410951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117386252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 136 (N136K)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242] [ENSMUST00000225981]
AlphaFold P21995
Predicted Effect probably benign
Transcript: ENSMUST00000022242
AA Change: N136K

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: N136K

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 benign
Transcript: ENSMUST00000225981
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,044 (GRCm39) Q1078* probably null Het
Aatk T C 11: 119,900,256 (GRCm39) K1310R possibly damaging Het
Acaa2 C T 18: 74,928,230 (GRCm39) T153M possibly damaging Het
Add3 A G 19: 53,227,868 (GRCm39) T518A probably damaging Het
Cacnb4 T C 2: 52,359,579 (GRCm39) E143G probably damaging Het
Cd209a T A 8: 3,795,541 (GRCm39) T177S probably benign Het
Chp1 T A 2: 119,391,238 (GRCm39) Y32N probably damaging Het
Clcn3 T C 8: 61,390,402 (GRCm39) T180A probably damaging Het
Dctn2 C A 10: 127,114,273 (GRCm39) T373N probably benign Het
Dipk2a T C 9: 94,402,591 (GRCm39) D357G probably damaging Het
Ecpas A G 4: 58,849,691 (GRCm39) Y483H possibly damaging Het
Enpp2 A T 15: 54,773,536 (GRCm39) C62S probably damaging Het
Fbxo28 G T 1: 182,169,000 (GRCm39) A52E unknown Het
Gask1b A T 3: 79,793,915 (GRCm39) K128* probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Ggta1 T C 2: 35,292,548 (GRCm39) D253G probably damaging Het
Gps1 C T 11: 120,677,193 (GRCm39) A164V probably benign Het
Gramd4 C T 15: 85,985,101 (GRCm39) Q146* probably null Het
Kcnh5 A T 12: 75,054,399 (GRCm39) M515K possibly damaging Het
Klrc3 T C 6: 129,616,107 (GRCm39) T203A probably damaging Het
Krt26 G T 11: 99,225,567 (GRCm39) R305S probably damaging Het
Lpin1 A G 12: 16,630,793 (GRCm39) V35A Het
Marf1 C T 16: 13,950,560 (GRCm39) R942H probably damaging Het
Mfhas1 T A 8: 36,056,758 (GRCm39) M411K possibly damaging Het
Mok A G 12: 110,774,833 (GRCm39) S330P probably benign Het
Msto1 A G 3: 88,817,435 (GRCm39) probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or10w1 T A 19: 13,632,390 (GRCm39) I199N possibly damaging Het
Pcdhgb4 T A 18: 37,855,847 (GRCm39) C747* probably null Het
Pih1d1 A G 7: 44,806,183 (GRCm39) T40A probably benign Het
Pih1d2 A T 9: 50,536,216 (GRCm39) E290D probably damaging Het
Plce1 A G 19: 38,753,848 (GRCm39) K1849E probably benign Het
Plekha5 T C 6: 140,372,271 (GRCm39) Y74H probably damaging Het
Pole T G 5: 110,460,860 (GRCm39) I1183S probably damaging Het
Ptgs1 T C 2: 36,135,223 (GRCm39) S396P possibly damaging Het
Rasa2 T C 9: 96,439,478 (GRCm39) E575G probably damaging Het
Sec22b A G 3: 97,808,674 (GRCm39) T5A probably damaging Het
Slc18a1 T A 8: 69,518,213 (GRCm39) D267V probably damaging Het
Smad5 T C 13: 56,875,282 (GRCm39) F157L probably benign Het
Tcea1 T A 1: 4,965,213 (GRCm39) C294* probably null Het
Tut7 T C 13: 59,936,280 (GRCm39) I1274V possibly damaging Het
Txndc15 T A 13: 55,865,767 (GRCm39) M77K probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,475 (GRCm39) V377D probably damaging Het
Vmn2r7 A G 3: 64,632,394 (GRCm39) Y23H probably benign Het
Vwa3a T A 7: 120,394,841 (GRCm39) M887K possibly damaging Het
Zbtb5 T C 4: 44,995,196 (GRCm39) N63D probably 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
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
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'- ACCGCCGGTTTAACTACAC -3'
(R):5'- CTGGCCCGTGAACTAAATTTTG -3'

Sequencing Primer
(F):5'- GCCGGTTTAACTACACGTTTTG -3'
(R):5'- GGTAAGACTATACTCAAGGAAAAGC -3'
Posted On 2019-10-17