Incidental Mutation 'IGL00904:Bysl'
ID 29248
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 # IGL00904
Quality Score
Status
Chromosome 17
Chromosomal Location 47910256-47922417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47912796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 331 (M331I)
Ref Sequence ENSEMBL: ENSMUSP00000024783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024783] [ENSMUST00000037333] [ENSMUST00000171031] [ENSMUST00000182129] [ENSMUST00000182209] [ENSMUST00000183210] [ENSMUST00000183177] [ENSMUST00000182539] [ENSMUST00000183206] [ENSMUST00000183256] [ENSMUST00000182848] [ENSMUST00000182874] [ENSMUST00000183158] [ENSMUST00000183044] [ENSMUST00000182506]
AlphaFold O54825
Predicted Effect probably benign
Transcript: ENSMUST00000024783
AA Change: M331I

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988
AA Change: M331I

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 probably benign
Transcript: ENSMUST00000037333
SMART Domains Protein: ENSMUSP00000040488
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171031
SMART Domains Protein: ENSMUSP00000126141
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182129
SMART Domains Protein: ENSMUSP00000138486
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Pfam:Cyclin_C 155 214 2.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182209
SMART Domains Protein: ENSMUSP00000138091
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182281
Predicted Effect probably benign
Transcript: ENSMUST00000183210
Predicted Effect probably benign
Transcript: ENSMUST00000182846
Predicted Effect probably benign
Transcript: ENSMUST00000183177
SMART Domains Protein: ENSMUSP00000138640
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182539
SMART Domains Protein: ENSMUSP00000138458
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
Pfam:Cyclin_C 1 84 1.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183206
Predicted Effect probably benign
Transcript: ENSMUST00000183256
SMART Domains Protein: ENSMUSP00000138528
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
Pfam:Cyclin_C 1 70 9.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182848
SMART Domains Protein: ENSMUSP00000138715
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Pfam:Cyclin_C 155 243 8.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182874
SMART Domains Protein: ENSMUSP00000138711
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
PDB:3G33|D 1 69 3e-42 PDB
SCOP:d1g3nc1 22 67 9e-10 SMART
Blast:CYCLIN 26 66 9e-10 BLAST
PDB:2W9F|A 73 119 3e-9 PDB
Blast:CYCLIN 87 119 4e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000183158
SMART Domains Protein: ENSMUSP00000138169
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 1 82 1.71e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183044
SMART Domains Protein: ENSMUSP00000138220
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182506
SMART Domains Protein: ENSMUSP00000138180
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 251 2.02e-3 SMART
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,923,135 (GRCm39) G236C probably damaging Het
Abi1 C T 2: 22,831,942 (GRCm39) R404Q possibly damaging Het
Atp8b3 C T 10: 80,364,598 (GRCm39) G532R probably damaging Het
Ccdc121rt3 G A 5: 112,502,994 (GRCm39) R237* probably null Het
Cndp1 A G 18: 84,629,790 (GRCm39) S468P probably benign Het
Esd A G 14: 74,987,128 (GRCm39) *266W probably null Het
F5 T C 1: 164,021,578 (GRCm39) V1351A probably benign Het
Fchsd2 A G 7: 100,920,829 (GRCm39) D454G probably benign Het
Fndc1 T A 17: 7,975,195 (GRCm39) M1415L probably benign Het
Ghr T A 15: 3,357,602 (GRCm39) Y222F probably benign Het
Gtf3c2 C T 5: 31,330,202 (GRCm39) S299N probably damaging Het
Ice1 C T 13: 70,750,408 (GRCm39) D93N probably damaging Het
Ints7 T A 1: 191,328,276 (GRCm39) probably null Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Mcm9 A T 10: 53,499,017 (GRCm39) H308Q possibly damaging Het
Mesp2 A G 7: 79,462,401 (GRCm39) D319G probably benign Het
Mrpl55 T A 11: 59,096,499 (GRCm39) S84T probably benign Het
Mybpc3 T C 2: 90,950,374 (GRCm39) V123A probably benign Het
Myom1 T C 17: 71,406,944 (GRCm39) probably benign Het
Nfia C T 4: 97,953,623 (GRCm39) P325S probably damaging Het
Notch4 T C 17: 34,794,535 (GRCm39) probably null Het
Npepps A C 11: 97,149,132 (GRCm39) V130G probably damaging Het
Or7c70 A T 10: 78,683,597 (GRCm39) S51T probably damaging Het
Pja2 G T 17: 64,590,526 (GRCm39) T669K probably damaging Het
Rnf112 G T 11: 61,343,610 (GRCm39) D98E probably damaging Het
Rsl1d1 G A 16: 11,017,558 (GRCm39) T136I probably damaging Het
Samsn1 A T 16: 75,706,008 (GRCm39) probably benign Het
Slc6a9 T C 4: 117,721,814 (GRCm39) L280P probably damaging Het
Svep1 T C 4: 58,097,398 (GRCm39) N1382D probably benign Het
Vmn2r100 T G 17: 19,746,262 (GRCm39) C474G probably damaging Het
Vmn2r74 C T 7: 85,606,788 (GRCm39) R186H probably benign Het
Wdr7 T C 18: 63,929,302 (GRCm39) I1046T probably benign Het
Other mutations in Bysl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03227:Bysl APN 17 47,922,017 (GRCm39) missense probably benign 0.01
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 2013-04-17