Incidental Mutation 'R4988:Casc3'
ID 512187
Institutional Source Beutler Lab
Gene Symbol Casc3
Ensembl Gene ENSMUSG00000078676
Gene Name exon junction complex subunit
Synonyms Mln51, Btz
MMRRC Submission 042582-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R4988 (G1)
Quality Score 190
Status Not validated
Chromosome 11
Chromosomal Location 98700634-98724633 bp(+) (GRCm39)
Type of Mutation splice site (63 bp from exon)
DNA Base Change (assembly) T to G at 98712700 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 null
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 noncoding transcript
Transcript: ENSMUST00000147065
Predicted Effect probably null
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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 G A 1: 130,670,447 (GRCm39) G223E probably damaging Het
Abcb11 T C 2: 69,154,236 (GRCm39) N110S probably benign Het
Acaca T A 11: 84,154,121 (GRCm39) H947Q probably damaging Het
Akap13 T C 7: 75,380,276 (GRCm39) M2202T probably damaging Het
Amy2b T C 3: 113,058,550 (GRCm39) noncoding transcript Het
Arhgef4 A T 1: 34,762,535 (GRCm39) H597L unknown Het
Asgr2 A G 11: 69,988,665 (GRCm39) I119M probably benign Het
Cbr1b A G 16: 93,426,884 (GRCm39) T162A probably benign Het
Ccdc7b T A 8: 129,872,013 (GRCm39) M239K possibly damaging Het
Cdc27 A G 11: 104,416,950 (GRCm39) S334P possibly damaging Het
Ces1c T C 8: 93,827,336 (GRCm39) E476G probably damaging Het
Clec3a T A 8: 115,144,827 (GRCm39) M1K probably null Het
Col9a1 T C 1: 24,224,273 (GRCm39) S152P unknown Het
Cpd A G 11: 76,705,656 (GRCm39) S359P probably damaging Het
Ctnnal1 A T 4: 56,847,854 (GRCm39) L95* probably null Het
Dhx57 T C 17: 80,558,827 (GRCm39) D1044G probably damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Efcab5 A G 11: 77,028,078 (GRCm39) S418P probably damaging Het
Elp5 T C 11: 69,870,668 (GRCm39) D59G probably benign Het
Fam210a G A 18: 68,409,218 (GRCm39) R31C probably benign Het
Farp1 A G 14: 121,513,019 (GRCm39) T792A probably damaging Het
Fmc1 A T 6: 38,511,917 (GRCm39) Y37F probably benign Het
Gm10717 T A 9: 3,026,368 (GRCm39) L72M probably benign Het
Gm1758 A T 16: 14,320,067 (GRCm39) noncoding transcript Het
Gm4553 G A 7: 141,718,729 (GRCm39) probably benign Het
Gpr156 A G 16: 37,768,577 (GRCm39) T33A possibly damaging Het
Hhat A T 1: 192,339,602 (GRCm39) probably benign Het
Hint2 T C 4: 43,654,953 (GRCm39) I59V possibly damaging Het
Hps4 C T 5: 112,526,019 (GRCm39) probably benign Het
Hsd17b8 A G 17: 34,246,262 (GRCm39) F137S probably damaging Het
Klrc2 A T 6: 129,633,426 (GRCm39) C192S probably benign Het
Map1a C T 2: 121,133,531 (GRCm39) T1211I probably benign Het
Mtus1 T C 8: 41,537,578 (GRCm39) N46S probably benign Het
Myo18a T C 11: 77,736,347 (GRCm39) probably null Het
Nbas T C 12: 13,458,266 (GRCm39) S1258P probably benign Het
Ndst1 C T 18: 60,836,005 (GRCm39) G426D probably damaging Het
Nepro A G 16: 44,554,905 (GRCm39) E327G possibly damaging Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or10s1 G A 9: 39,985,961 (GRCm39) M123I probably damaging Het
Or1j18 T C 2: 36,624,996 (GRCm39) I221T possibly damaging Het
Or2m13 A T 16: 19,225,860 (GRCm39) M302K probably benign Het
Or6c66 T C 10: 129,461,930 (GRCm39) probably null Het
Pcdhb15 G A 18: 37,608,855 (GRCm39) A696T probably damaging Het
Polm C A 11: 5,787,618 (GRCm39) R45L probably damaging Het
Pon3 G A 6: 5,254,582 (GRCm39) R27* probably null Het
Proser1 T C 3: 53,387,046 (GRCm39) I845T probably damaging Het
Rassf8 A G 6: 145,762,870 (GRCm39) N406D possibly damaging Het
Skint10 A T 4: 112,586,069 (GRCm39) C182* probably null Het
Slc6a19 C T 13: 73,833,959 (GRCm39) W366* probably null Het
St7 T C 6: 17,934,225 (GRCm39) F470L probably damaging Het
St8sia4 T A 1: 95,519,522 (GRCm39) Y322F possibly damaging Het
Trav8n-2 A T 14: 53,975,814 (GRCm39) probably benign Het
Vwa8 A T 14: 79,435,723 (GRCm39) H1811L probably benign Het
Zfp14 G A 7: 29,737,482 (GRCm39) T501I probably benign 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
IGL02345:Casc3 APN 11 98,718,390 (GRCm39) splice site probably benign
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
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
Predicted Primers
Posted On 2018-04-10