Incidental Mutation 'IGL01406:Emb'
ID 79812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emb
Ensembl Gene ENSMUSG00000021728
Gene Name embigin
Synonyms Gp70
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL01406
Quality Score
Status
Chromosome 13
Chromosomal Location 117357109-117410951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117405466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 296 (D296V)
Ref Sequence ENSEMBL: ENSMUSP00000022242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022242]
AlphaFold P21995
Predicted Effect probably damaging
Transcript: ENSMUST00000022242
AA Change: D296V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: D296V

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 0.1839 question?
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,180,212 (GRCm39) Q558* probably null Het
Adam29 A T 8: 56,324,874 (GRCm39) Y527N probably damaging Het
Atm T C 9: 53,351,046 (GRCm39) *3067W probably null Het
B3galt2 A T 1: 143,522,844 (GRCm39) I327L possibly damaging Het
Cadm2 C A 16: 66,612,192 (GRCm39) probably null Het
Cd6 G T 19: 10,768,501 (GRCm39) A496E possibly damaging Het
Cdh16 A T 8: 105,345,044 (GRCm39) I415N possibly damaging Het
Ces1b T C 8: 93,798,622 (GRCm39) N188S probably damaging Het
Col4a1 T C 8: 11,268,898 (GRCm39) D980G probably damaging Het
Dmgdh G A 13: 93,823,539 (GRCm39) probably benign Het
Fbln2 T C 6: 91,243,374 (GRCm39) S917P probably damaging Het
Fmnl1 T C 11: 103,085,516 (GRCm39) probably benign Het
Frem2 T C 3: 53,433,317 (GRCm39) Y2669C probably damaging Het
Gm3115 T A 14: 4,087,137 (GRCm38) probably benign Het
Hnf1b C T 11: 83,779,950 (GRCm39) P402S probably benign Het
Il7r T A 15: 9,508,300 (GRCm39) R341* probably null Het
Krt75 T C 15: 101,476,460 (GRCm39) Y435C probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Musk T C 4: 58,367,539 (GRCm39) Y578H probably damaging Het
Naa20 A G 2: 145,757,726 (GRCm39) probably null Het
Ncoa7 T C 10: 30,566,836 (GRCm39) D565G probably damaging Het
Pgap1 C T 1: 54,572,573 (GRCm39) probably null Het
Plekha5 G A 6: 140,518,676 (GRCm39) R172H probably damaging Het
Snx17 A G 5: 31,353,338 (GRCm39) Y77C probably damaging Het
Spdye4b C T 5: 143,188,166 (GRCm39) P220S probably benign Het
Tbx18 T A 9: 87,595,596 (GRCm39) D326V probably damaging Het
Tlr12 A T 4: 128,510,132 (GRCm39) L706* probably null Het
Tnfrsf21 T A 17: 43,348,837 (GRCm39) C150S probably damaging Het
Togaram1 A G 12: 65,042,352 (GRCm39) D1187G possibly damaging Het
Trav5-1 T C 14: 52,860,444 (GRCm39) L83P probably damaging Het
Vmn2r75 T A 7: 85,812,500 (GRCm39) probably benign Het
Other mutations in Emb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05