Incidental Mutation 'IGL02345:Casc3'
ID 289257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casc3
Ensembl Gene ENSMUSG00000078676
Gene Name exon junction complex subunit
Synonyms Mln51, Btz
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # IGL02345
Quality Score
Status
Chromosome 11
Chromosomal Location 98700634-98724633 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 98718390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017384] [ENSMUST00000169695]
AlphaFold Q8K3W3
Predicted Effect probably benign
Transcript: ENSMUST00000017384
SMART Domains Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676

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 probably benign
Transcript: ENSMUST00000169695
SMART Domains Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,214,215 (GRCm39) D177Y possibly damaging Het
Catspere2 G A 1: 177,842,754 (GRCm39) V60I possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Dcun1d4 A G 5: 73,668,495 (GRCm39) D41G probably damaging Het
Dnm1l T C 16: 16,147,758 (GRCm39) S181G possibly damaging Het
Dyrk1a T G 16: 94,472,221 (GRCm39) S242A possibly damaging Het
Fcgbp T A 7: 27,771,068 (GRCm39) probably benign Het
Fibcd1 T C 2: 31,706,604 (GRCm39) Y409C probably damaging Het
Fig4 A T 10: 41,143,770 (GRCm39) W230R probably null Het
Flt1 T C 5: 147,519,436 (GRCm39) S960G probably benign Het
Fyb1 A G 15: 6,649,143 (GRCm39) S390G possibly damaging Het
Gbx2 T C 1: 89,856,698 (GRCm39) T231A probably benign Het
Gm5852 T A 3: 93,635,055 (GRCm39) noncoding transcript Het
Lmo7 T C 14: 102,124,909 (GRCm39) V456A probably damaging Het
Mark3 A G 12: 111,593,541 (GRCm39) N191S probably damaging Het
Or7h8 C A 9: 20,124,314 (GRCm39) S223Y possibly damaging Het
Pik3c2a C T 7: 116,005,126 (GRCm39) E381K probably damaging Het
Pik3r5 A G 11: 68,383,552 (GRCm39) D457G probably benign Het
Plcg2 T C 8: 118,311,919 (GRCm39) S404P probably damaging Het
Prr16 T C 18: 51,436,301 (GRCm39) F260S probably damaging Het
Psd4 T C 2: 24,291,835 (GRCm39) probably null Het
Ptgs1 A G 2: 36,132,983 (GRCm39) D327G probably null Het
Rgsl1 C T 1: 153,679,755 (GRCm39) probably null Het
Spart T A 3: 55,025,147 (GRCm39) probably null Het
Sugp1 A G 8: 70,495,734 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Usp19 A G 9: 108,371,057 (GRCm39) T240A probably benign Het
Vash2 A G 1: 190,710,412 (GRCm39) V81A probably benign Het
Vmn2r41 T G 7: 8,141,767 (GRCm39) N566H probably damaging Het
Wdr31 A G 4: 62,377,083 (GRCm39) I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 (GRCm39) V1272I possibly damaging Het
Zfp638 C T 6: 83,961,857 (GRCm39) R1899C probably damaging Het
Other mutations in Casc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Casc3 APN 11 98,714,028 (GRCm39) missense possibly damaging 0.62
IGL01566:Casc3 APN 11 98,714,227 (GRCm39) critical splice donor site probably null
IGL01901:Casc3 APN 11 98,713,947 (GRCm39) missense probably damaging 1.00
IGL02875:Casc3 APN 11 98,712,378 (GRCm39) missense probably damaging 1.00
IGL02964:Casc3 APN 11 98,719,749 (GRCm39) missense probably damaging 0.96
R0147:Casc3 UTSW 11 98,713,325 (GRCm39) missense possibly damaging 0.89
R0195:Casc3 UTSW 11 98,712,319 (GRCm39) missense probably damaging 0.99
R0763:Casc3 UTSW 11 98,722,144 (GRCm39) missense probably damaging 1.00
R1581:Casc3 UTSW 11 98,713,644 (GRCm39) missense possibly damaging 0.66
R2021:Casc3 UTSW 11 98,712,332 (GRCm39) missense probably benign 0.01
R4380:Casc3 UTSW 11 98,713,857 (GRCm39) missense possibly damaging 0.67
R4612:Casc3 UTSW 11 98,713,784 (GRCm39) missense probably benign 0.13
R4988:Casc3 UTSW 11 98,712,700 (GRCm39) splice site probably null
R5079:Casc3 UTSW 11 98,701,252 (GRCm39) intron probably benign
R5442:Casc3 UTSW 11 98,712,297 (GRCm39) missense probably damaging 0.99
R5511:Casc3 UTSW 11 98,701,740 (GRCm39) nonsense probably null
R5873:Casc3 UTSW 11 98,712,270 (GRCm39) missense unknown
R6041:Casc3 UTSW 11 98,719,385 (GRCm39) missense probably damaging 1.00
R6685:Casc3 UTSW 11 98,713,356 (GRCm39) missense probably damaging 0.99
R7030:Casc3 UTSW 11 98,713,359 (GRCm39) missense possibly damaging 0.74
R7107:Casc3 UTSW 11 98,718,413 (GRCm39) missense possibly damaging 0.93
R7594:Casc3 UTSW 11 98,712,311 (GRCm39) missense probably benign 0.04
R7659:Casc3 UTSW 11 98,700,699 (GRCm39) missense unknown
R7660:Casc3 UTSW 11 98,700,699 (GRCm39) missense unknown
R8443:Casc3 UTSW 11 98,713,607 (GRCm39) missense probably damaging 1.00
R8444:Casc3 UTSW 11 98,713,607 (GRCm39) missense probably damaging 1.00
R8491:Casc3 UTSW 11 98,713,977 (GRCm39) missense probably benign 0.27
R8516:Casc3 UTSW 11 98,713,607 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16