Incidental Mutation 'IGL01374:Ctnnbl1'
ID 78674
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 # IGL01374
Quality Score
Status
Chromosome 2
Chromosomal Location 157737401-157891614 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 157836693 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029178] [ENSMUST00000029178]
AlphaFold Q9CWL8
Predicted Effect probably null
Transcript: ENSMUST00000029178
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

DomainStartEndE-ValueType
DUF1716 52 162 3.97e-61 SMART
Predicted Effect probably null
Transcript: ENSMUST00000029178
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

DomainStartEndE-ValueType
DUF1716 52 162 3.97e-61 SMART
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 131,146,101 H54R probably benign Het
Acsl6 T C 11: 54,338,419 V359A probably damaging Het
Aldh3a2 C T 11: 61,249,002 V435I probably benign Het
Atm A T 9: 53,531,724 S80T possibly damaging Het
Atp8b4 A T 2: 126,383,657 probably benign Het
Atxn1 T C 13: 45,568,427 probably benign Het
Chd3 T C 11: 69,359,980 E641G probably damaging Het
Clpb T C 7: 101,773,128 V346A probably damaging Het
Cyp2b19 C T 7: 26,759,079 P73L probably benign Het
Dcc T C 18: 71,374,553 Y916C probably damaging Het
Fat4 A G 3: 38,887,498 N180S probably damaging Het
Foxi1 A C 11: 34,207,984 C14G probably damaging Het
Fut4 G T 9: 14,751,490 F169L probably benign Het
Grip1 T C 10: 120,049,368 S748P probably benign Het
Hnrnpr T C 4: 136,327,418 probably benign Het
Ifnz G A 4: 88,783,341 probably benign Het
Krt28 A G 11: 99,371,468 V232A probably benign Het
Lyar C A 5: 38,228,047 probably null Het
Manba G A 3: 135,554,780 W575* probably null Het
Morc3 T A 16: 93,844,213 D44E probably damaging Het
Mrc2 T A 11: 105,347,643 Y1205* probably null Het
Myh2 A T 11: 67,177,424 T293S probably benign Het
Nlrp10 T A 7: 108,924,581 K564I possibly damaging Het
Nuak1 A G 10: 84,374,668 S519P probably damaging Het
Olfr1158 T C 2: 87,990,548 F146L probably benign Het
Olfr358 T C 2: 37,004,930 H228R probably benign Het
Padi2 T A 4: 140,933,185 N325K probably damaging Het
Pcdhb19 A T 18: 37,497,989 Y279F probably damaging Het
Phldb1 A G 9: 44,696,167 L1247P probably damaging Het
Rmdn3 A G 2: 119,153,947 V108A probably damaging Het
Slc22a5 A G 11: 53,867,664 F437L probably benign Het
Slc3a2 C T 19: 8,713,337 probably null Het
Slc5a3 T A 16: 92,077,118 M21K probably benign Het
Spink5 T A 18: 43,989,404 F312Y possibly damaging Het
Stab1 T C 14: 31,147,075 Y1531C probably damaging Het
Tln2 C A 9: 67,261,923 A433S probably damaging Het
Usp24 C T 4: 106,380,099 L1076F possibly damaging Het
Vmn2r117 T C 17: 23,478,382 Y112C possibly damaging Het
Vmn2r16 C T 5: 109,330,417 L13F probably benign Het
Vmn2r76 T C 7: 86,225,649 M707V probably benign Het
Zmym4 A T 4: 126,868,957 F1358I probably damaging Het
Other mutations in Ctnnbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ctnnbl1 APN 2 157819541 missense possibly damaging 0.80
IGL01504:Ctnnbl1 APN 2 157818116 splice site probably benign
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 2013-11-05