Incidental Mutation 'IGL01504:Ctnnbl1'
ID 88993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnnbl1
Ensembl Gene ENSMUSG00000027649
Gene Name catenin, beta like 1
Synonyms P14L, FLJ21108, NYD-SP19, 5730471K09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL01504
Quality Score
Status
Chromosome 2
Chromosomal Location 157737401-157891614 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 157818116 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029178]
AlphaFold Q9CWL8
Predicted Effect probably benign
Transcript: ENSMUST00000029178
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

DomainStartEndE-ValueType
DUF1716 52 162 3.97e-61 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156300
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
PHENOTYPE:
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,602 I326N probably damaging Het
Acot6 G A 12: 84,109,402 V375M probably benign Het
Als2cl G A 9: 110,889,283 R364Q probably benign Het
Cpa1 A T 6: 30,640,721 T121S probably benign Het
Fam196a T A 7: 134,917,940 Q287L probably benign Het
Frrs1 C A 3: 116,900,658 Q76K probably damaging Het
Gja10 T A 4: 32,602,375 D3V probably damaging Het
Krt76 T C 15: 101,888,173 E400G probably damaging Het
Mdm1 A G 10: 118,146,600 T47A probably damaging Het
Ncf2 A G 1: 152,833,329 K336R probably benign Het
Ndrg4 C A 8: 95,706,266 L34I probably damaging Het
Phf20l1 T A 15: 66,597,691 H148Q possibly damaging Het
Rhobtb1 A G 10: 69,249,698 H89R probably damaging Het
Sult1e1 T C 5: 87,576,301 N266D probably damaging Het
Sult2a2 T C 7: 13,738,264 S129P probably damaging Het
Trank1 A G 9: 111,373,544 E1659G probably damaging Het
Trpa1 T G 1: 14,882,219 I863L possibly damaging Het
Vmn1r177 C T 7: 23,866,410 V14M probably damaging Het
Vmn2r14 A T 5: 109,221,419 M96K probably benign Het
Zp1 C T 19: 10,919,011 V117M probably damaging Het
Other mutations in Ctnnbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ctnnbl1 APN 2 157819541 missense possibly damaging 0.80
IGL01374:Ctnnbl1 APN 2 157836693 critical splice donor site probably null
IGL01622:Ctnnbl1 APN 2 157819548 missense probably damaging 1.00
IGL01623:Ctnnbl1 APN 2 157819548 missense probably damaging 1.00
IGL02146:Ctnnbl1 APN 2 157819494 missense probably damaging 1.00
IGL02550:Ctnnbl1 APN 2 157884135 missense probably benign 0.00
IGL03104:Ctnnbl1 APN 2 157890965 missense probably damaging 0.99
IGL03164:Ctnnbl1 APN 2 157817761 missense probably benign
R0482:Ctnnbl1 UTSW 2 157871190 critical splice donor site probably null
R0826:Ctnnbl1 UTSW 2 157799417 splice site probably benign
R0827:Ctnnbl1 UTSW 2 157799417 splice site probably benign
R0862:Ctnnbl1 UTSW 2 157799417 splice site probably benign
R0863:Ctnnbl1 UTSW 2 157799417 splice site probably benign
R0864:Ctnnbl1 UTSW 2 157799417 splice site probably benign
R1466:Ctnnbl1 UTSW 2 157799417 splice site probably benign
R1533:Ctnnbl1 UTSW 2 157836643 missense probably benign
R2971:Ctnnbl1 UTSW 2 157871186 missense probably benign 0.06
R3522:Ctnnbl1 UTSW 2 157871193 splice site probably null
R4296:Ctnnbl1 UTSW 2 157819570 splice site probably null
R4982:Ctnnbl1 UTSW 2 157836553 missense probably benign 0.01
R5396:Ctnnbl1 UTSW 2 157817832 splice site probably null
R5857:Ctnnbl1 UTSW 2 157789098 missense probably damaging 1.00
R7710:Ctnnbl1 UTSW 2 157774571 missense probably benign 0.00
R7769:Ctnnbl1 UTSW 2 157737470 start gained probably benign
R8134:Ctnnbl1 UTSW 2 157809471 missense probably benign 0.19
R8324:Ctnnbl1 UTSW 2 157779815 missense probably damaging 0.97
R8384:Ctnnbl1 UTSW 2 157818060 missense probably benign 0.01
R8430:Ctnnbl1 UTSW 2 157836683 missense probably damaging 0.99
R9116:Ctnnbl1 UTSW 2 157806703 missense probably damaging 1.00
R9244:Ctnnbl1 UTSW 2 157836663 missense possibly damaging 0.63
R9350:Ctnnbl1 UTSW 2 157809525 missense possibly damaging 0.91
Posted On 2013-12-03