Incidental Mutation 'IGL02875:Casc3'
ID406197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casc3
Ensembl Gene ENSMUSG00000078676
Gene Namecancer susceptibility candidate 3
SynonymsBtz, Mln51
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.939) question?
Stock #IGL02875
Quality Score
Status
Chromosome11
Chromosomal Location98804905-98833814 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 98821552 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 139 (V139G)
Ref Sequence ENSEMBL: ENSMUSP00000130926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017384] [ENSMUST00000169695]
Predicted Effect probably damaging
Transcript: ENSMUST00000017384
AA Change: V139G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: V139G

DomainStartEndE-ValueType
low complexity region 18 62 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 89 109 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Btz 138 246 1.02e-57 SMART
low complexity region 524 533 N/A INTRINSIC
low complexity region 586 614 N/A INTRINSIC
low complexity region 627 648 N/A INTRINSIC
low complexity region 669 684 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147065
Predicted Effect probably damaging
Transcript: ENSMUST00000169695
AA Change: V139G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: V139G

DomainStartEndE-ValueType
low complexity region 18 62 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 89 109 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Btz 138 246 1.02e-57 SMART
low complexity region 524 533 N/A INTRINSIC
low complexity region 586 614 N/A INTRINSIC
low complexity region 627 648 N/A INTRINSIC
low complexity region 669 684 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygosity for a null or hypomorphic allele causes embryonic and postnatal lethality, respectively. Compound heterozygous embryos are smaller and exhibit proportionately reduced brain size with fewer neurons and progenitors, but no apoptosis, largely due to developmental delay. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,291,949 I397V possibly damaging Het
Asph A G 4: 9,595,380 S281P probably damaging Het
Bdnf T C 2: 109,723,851 V150A probably damaging Het
Birc6 T C 17: 74,589,718 V1053A probably damaging Het
Btg4 T A 9: 51,119,146 F182Y probably benign Het
Ccno C A 13: 112,988,052 P52Q possibly damaging Het
Cdk1 T G 10: 69,342,536 probably benign Het
Daam2 A C 17: 49,464,028 I887S probably damaging Het
Dmrta1 A G 4: 89,691,748 D315G possibly damaging Het
Dnah6 T C 6: 73,138,715 I1515V probably damaging Het
Dock7 A T 4: 98,975,994 I1241K probably benign Het
Fam180a T C 6: 35,313,682 D122G probably damaging Het
Gm11992 C T 11: 9,052,887 probably benign Het
Il1b A G 2: 129,367,251 I153T probably benign Het
Kntc1 C A 5: 123,778,277 probably null Het
Krt77 T C 15: 101,869,149 D157G probably damaging Het
Lmbr1 A G 5: 29,292,188 S72P probably damaging Het
Mphosph9 T A 5: 124,283,737 probably null Het
Mpp4 C T 1: 59,136,834 probably null Het
Ncbp2 T A 16: 31,954,153 L36Q probably damaging Het
Olfr1245 T C 2: 89,575,552 Y58C probably damaging Het
Olfr147 A G 9: 38,403,176 M101V probably damaging Het
Olfr1535 T A 13: 21,556,002 S7C probably damaging Het
Oscp1 A G 4: 126,076,808 D130G probably damaging Het
Pls1 A T 9: 95,754,351 M615K possibly damaging Het
Prep C A 10: 45,158,433 H680Q probably damaging Het
Rad1 T C 15: 10,493,279 I264T probably benign Het
Rhbdf1 A G 11: 32,213,293 V393A possibly damaging Het
Skint3 A T 4: 112,255,882 I230L possibly damaging Het
Slc9b1 T A 3: 135,374,406 probably benign Het
Slfn3 T C 11: 83,213,427 Y375H probably damaging Het
Ssrp1 T A 2: 85,040,920 I257N probably damaging Het
Svep1 A G 4: 58,082,821 probably benign Het
Tcl1b2 T C 12: 105,154,099 *118Q probably null Het
Thsd7b A G 1: 129,951,393 Y989C probably damaging Het
Trim58 C T 11: 58,640,466 probably benign Het
Vmn2r42 T C 7: 8,194,853 T256A probably benign Het
Other mutations in Casc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Casc3 APN 11 98823202 missense possibly damaging 0.62
IGL01566:Casc3 APN 11 98823401 critical splice donor site probably null
IGL01901:Casc3 APN 11 98823121 missense probably damaging 1.00
IGL02345:Casc3 APN 11 98827564 splice site probably benign
IGL02964:Casc3 APN 11 98828923 missense probably damaging 0.96
R0147:Casc3 UTSW 11 98822499 missense possibly damaging 0.89
R0195:Casc3 UTSW 11 98821493 missense probably damaging 0.99
R0763:Casc3 UTSW 11 98831318 missense probably damaging 1.00
R1581:Casc3 UTSW 11 98822818 missense possibly damaging 0.66
R2021:Casc3 UTSW 11 98821506 missense probably benign 0.01
R4380:Casc3 UTSW 11 98823031 missense possibly damaging 0.67
R4612:Casc3 UTSW 11 98822958 missense probably benign 0.13
R4988:Casc3 UTSW 11 98821874 splice site probably null
R5079:Casc3 UTSW 11 98810426 intron probably benign
R5442:Casc3 UTSW 11 98821471 missense probably damaging 0.99
R5511:Casc3 UTSW 11 98810914 nonsense probably null
R5873:Casc3 UTSW 11 98821444 missense unknown
R6041:Casc3 UTSW 11 98828559 missense probably damaging 1.00
R6685:Casc3 UTSW 11 98822530 missense probably damaging 0.99
R7030:Casc3 UTSW 11 98822533 missense possibly damaging 0.74
R7107:Casc3 UTSW 11 98827587 missense possibly damaging 0.93
R7594:Casc3 UTSW 11 98821485 missense probably benign 0.04
R7659:Casc3 UTSW 11 98809873 missense unknown
R7660:Casc3 UTSW 11 98809873 missense unknown
Posted On2016-08-02