Incidental Mutation 'IGL03227:Bysl'
ID 414145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bysl
Ensembl Gene ENSMUSG00000023988
Gene Name bystin-like
Synonyms Enp1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03227
Quality Score
Status
Chromosome 17
Chromosomal Location 47910256-47922417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47922017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 27 (N27S)
Ref Sequence ENSEMBL: ENSMUSP00000024783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024778] [ENSMUST00000024783] [ENSMUST00000132397]
AlphaFold O54825
Predicted Effect probably benign
Transcript: ENSMUST00000024778
SMART Domains Protein: ENSMUSP00000024778
Gene: ENSMUSG00000092558

DomainStartEndE-ValueType
Pfam:Med20 1 198 6.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024783
AA Change: N27S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988
AA Change: N27S

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 52 69 N/A INTRINSIC
Pfam:Bystin 140 430 1.1e-144 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130830
Predicted Effect probably benign
Transcript: ENSMUST00000132397
SMART Domains Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984

DomainStartEndE-ValueType
Pfam:Med20 1 149 1.6e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149893
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality shortly after implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C T 1: 25,586,556 (GRCm39) G172E probably damaging Het
Alas2 A G X: 149,340,262 (GRCm39) K151E probably damaging Het
Apob A G 12: 8,066,089 (GRCm39) T4353A probably benign Het
Arhgef1 C A 7: 24,622,276 (GRCm39) D554E probably damaging Het
Atad2b T A 12: 5,056,715 (GRCm39) L857Q probably damaging Het
Atp2b4 C A 1: 133,657,445 (GRCm39) probably benign Het
Bche C A 3: 73,608,945 (GRCm39) K160N probably damaging Het
Bmx A G X: 162,986,192 (GRCm39) M537T probably damaging Het
Ccdc110 T A 8: 46,394,586 (GRCm39) L159H probably damaging Het
Cd34 G A 1: 194,640,771 (GRCm39) C212Y probably damaging Het
Erich2 C T 2: 70,343,114 (GRCm39) probably benign Het
Fap T A 2: 62,361,107 (GRCm39) probably null Het
Fitm2 T C 2: 163,311,452 (GRCm39) T254A probably benign Het
Fscn3 T C 6: 28,434,429 (GRCm39) S335P probably benign Het
Grk2 C T 19: 4,337,857 (GRCm39) E508K probably benign Het
Lbr T C 1: 181,663,620 (GRCm39) probably null Het
Lct A T 1: 128,255,426 (GRCm39) F205L probably benign Het
Magi3 A T 3: 103,958,435 (GRCm39) I550N probably benign Het
Med13 A G 11: 86,218,618 (GRCm39) probably benign Het
Msh3 A T 13: 92,422,468 (GRCm39) S563T probably damaging Het
Msra A G 14: 64,551,192 (GRCm39) V50A probably benign Het
Or7g25 A G 9: 19,160,518 (GRCm39) M59T probably damaging Het
Pcdhb13 T A 18: 37,576,711 (GRCm39) V363E probably damaging Het
Piezo2 G A 18: 63,257,677 (GRCm39) T347M probably damaging Het
Rapgef2 T C 3: 78,999,920 (GRCm39) probably benign Het
Rtl9 A C X: 141,882,824 (GRCm39) T79P probably benign Het
Slc15a2 A G 16: 36,576,410 (GRCm39) probably null Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Smurf1 G T 5: 144,835,992 (GRCm39) P123H probably damaging Het
Strn4 A G 7: 16,571,639 (GRCm39) T590A possibly damaging Het
Trpm6 T C 19: 18,796,483 (GRCm39) S780P probably benign Het
Trpm6 T C 19: 18,764,143 (GRCm39) Y250H probably benign Het
Zfp770 A T 2: 114,027,570 (GRCm39) C166* probably null Het
Other mutations in Bysl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Bysl APN 17 47,912,796 (GRCm39) missense probably benign 0.25
IGL01343:Bysl APN 17 47,912,814 (GRCm39) missense probably benign 0.02
IGL01982:Bysl APN 17 47,921,996 (GRCm39) splice site probably null
IGL03048:Bysl APN 17 47,913,560 (GRCm39) splice site probably null
R0115:Bysl UTSW 17 47,921,867 (GRCm39) missense probably benign
R0243:Bysl UTSW 17 47,917,821 (GRCm39) missense possibly damaging 0.93
R0685:Bysl UTSW 17 47,913,396 (GRCm39) missense probably benign 0.25
R2511:Bysl UTSW 17 47,915,260 (GRCm39) missense probably benign
R4202:Bysl UTSW 17 47,915,251 (GRCm39) missense probably benign 0.31
R5636:Bysl UTSW 17 47,913,648 (GRCm39) missense probably benign 0.25
R6614:Bysl UTSW 17 47,912,767 (GRCm39) missense probably damaging 1.00
R7311:Bysl UTSW 17 47,912,710 (GRCm39) missense possibly damaging 0.75
R7463:Bysl UTSW 17 47,913,396 (GRCm39) missense probably benign 0.25
R8861:Bysl UTSW 17 47,917,884 (GRCm39) missense probably benign 0.01
R9114:Bysl UTSW 17 47,915,242 (GRCm39) missense
R9666:Bysl UTSW 17 47,914,865 (GRCm39) missense probably benign 0.14
X0025:Bysl UTSW 17 47,922,016 (GRCm39) missense probably benign
Posted On 2016-08-02