Incidental Mutation 'R1421:Emb'
ID 159829
Institutional Source Beutler Lab
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Name embigin
Synonyms Gp70
MMRRC Submission 039477-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R1421 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 117357109-117410951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117408624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 322 (Y322H)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
AlphaFold P21995
Predicted Effect probably benign
Transcript: ENSMUST00000022242
AA Change: Y322H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: Y322H

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 96% (54/56)
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
A2ml1 T C 6: 128,520,923 (GRCm39) T1344A probably benign Het
Abcf1 G A 17: 36,271,801 (GRCm39) A375V probably damaging Het
Adam20 T A 8: 41,249,784 (GRCm39) H631Q possibly damaging Het
Adcy10 T C 1: 165,391,516 (GRCm39) S1258P probably damaging Het
Agtpbp1 A G 13: 59,643,389 (GRCm39) I717T possibly damaging Het
Ahnak T A 19: 8,992,995 (GRCm39) F4760I possibly damaging Het
Ano6 A G 15: 95,811,266 (GRCm39) K122R probably benign Het
Arhgap5 T C 12: 52,563,631 (GRCm39) C201R probably damaging Het
Atg16l1 T C 1: 87,714,080 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,291 (GRCm39) I331K probably damaging Het
Coq8a A G 1: 179,998,006 (GRCm39) probably benign Het
Crebbp A G 16: 3,942,511 (GRCm39) V662A probably damaging Het
Cspg4 T A 9: 56,803,910 (GRCm39) M1667K probably benign Het
Dnah7a A G 1: 53,580,032 (GRCm39) probably benign Het
Dnajc6 A T 4: 101,468,513 (GRCm39) Y251F probably damaging Het
Dpy19l4 A T 4: 11,304,011 (GRCm39) M133K probably benign Het
Gcm1 A T 9: 77,966,982 (GRCm39) H67L probably damaging Het
Gls2 A T 10: 128,037,217 (GRCm39) K253* probably null Het
Gm28042 T A 2: 119,866,944 (GRCm39) S196T probably benign Het
Gm43302 T C 5: 105,365,215 (GRCm39) T598A probably benign Het
Gramd1a T A 7: 30,842,291 (GRCm39) Q90L probably damaging Het
Grhl2 A G 15: 37,309,960 (GRCm39) Y352C probably damaging Het
Ifi203-ps T C 1: 173,625,563 (GRCm39) noncoding transcript Het
Ifitm2 T C 7: 140,534,972 (GRCm39) I121V probably benign Het
Insyn2a A T 7: 134,500,960 (GRCm39) probably benign Het
Kptn T G 7: 15,856,949 (GRCm39) probably benign Het
L2hgdh C T 12: 69,748,092 (GRCm39) D345N probably benign Het
Lgals12 T C 19: 7,584,079 (GRCm39) H6R probably benign Het
Lrrc4b A G 7: 44,110,475 (GRCm39) I116V probably benign Het
Misp A G 10: 79,662,681 (GRCm39) D366G probably damaging Het
Nav1 T C 1: 135,512,748 (GRCm39) E104G probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Parp1 T C 1: 180,427,653 (GRCm39) probably benign Het
Pikfyve G A 1: 65,310,470 (GRCm39) G1919D probably damaging Het
Pomt1 A G 2: 32,126,765 (GRCm39) probably benign Het
Prrc2b C T 2: 32,090,990 (GRCm39) S454F possibly damaging Het
Selenbp1 T C 3: 94,851,183 (GRCm39) S360P probably benign Het
Slc6a12 T A 6: 121,336,085 (GRCm39) I352N probably damaging Het
Snx9 G A 17: 5,952,759 (GRCm39) G197D probably benign Het
Ston1 T C 17: 88,943,221 (GRCm39) V209A probably benign Het
Taf7l2 A G 10: 115,949,343 (GRCm39) V61A probably damaging Het
Tex36 A T 7: 133,197,078 (GRCm39) probably null Het
Tnnt3 A G 7: 142,065,103 (GRCm39) E108G probably damaging Het
Vmn2r98 T A 17: 19,285,440 (GRCm39) F87I probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wdr64 T C 1: 175,594,716 (GRCm39) I479T possibly damaging Het
Xrcc5 A G 1: 72,349,636 (GRCm39) N22D probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp735 C A 11: 73,601,523 (GRCm39) L156I probably benign Het
Zfp820 A T 17: 22,038,861 (GRCm39) Y156N 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
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
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'- CCTCCCTAAGCAATGGCGTATGGAA -3'
(R):5'- ATTCAAGGACAAGTGAACTGGGTCTTTT -3'

Sequencing Primer
(F):5'- TGGCGTATGGAAAATCATTGTTC -3'
(R):5'- gcactgcctgctcagtc -3'
Posted On 2014-03-14