Incidental Mutation 'IGL03164:Ctnnbl1'
ID 411545
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 # IGL03164
Quality Score
Status
Chromosome 2
Chromosomal Location 157737401-157891614 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 157817761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 253 (M253L)
Ref Sequence ENSEMBL: ENSMUSP00000029178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029178]
AlphaFold Q9CWL8
Predicted Effect probably benign
Transcript: ENSMUST00000029178
AA Change: M253L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: M253L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,039,649 D256G probably damaging Het
Abcb11 A T 2: 69,291,999 L380* probably null Het
Aco1 A T 4: 40,167,116 N110I probably benign Het
Adamts9 T C 6: 92,889,937 D126G probably damaging Het
Anks1b T G 10: 90,042,692 V121G probably damaging Het
Ap1s3 A G 1: 79,625,170 L40P probably damaging Het
Cd19 C A 7: 126,413,509 M237I possibly damaging Het
Chil6 T C 3: 106,394,398 T129A probably benign Het
Chtf18 A G 17: 25,726,842 M94T probably benign Het
Clstn2 G T 9: 97,799,409 D59E possibly damaging Het
Erg T C 16: 95,409,871 T41A possibly damaging Het
Gjc1 T A 11: 102,800,721 N152I possibly damaging Het
Ints1 A G 5: 139,752,735 L2084P probably damaging Het
Isoc1 C T 18: 58,673,332 S238L probably damaging Het
Kdm5a T A 6: 120,439,019 D1633E probably damaging Het
Krt76 T C 15: 101,887,451 D428G possibly damaging Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lrp2 G T 2: 69,464,699 T3425K probably damaging Het
Lta4h T C 10: 93,470,797 probably benign Het
Nap1l4 C T 7: 143,538,216 probably null Het
Nlrp5 T A 7: 23,418,373 Y507* probably null Het
Nps T C 7: 135,272,310 S53P probably damaging Het
Olfr446 C T 6: 42,928,130 R300* probably null Het
Olfr491 T C 7: 108,317,694 S267P probably damaging Het
Oprk1 A T 1: 5,598,864 I178F probably damaging Het
Osgin2 G T 4: 16,001,938 S204R probably benign Het
Otop1 G T 5: 38,287,962 G155* probably null Het
Peli3 A G 19: 4,936,116 probably null Het
Pex7 T A 10: 19,894,715 probably benign Het
Pfkm T C 15: 98,131,962 L749P probably damaging Het
Pwp1 T A 10: 85,878,503 F103Y probably benign Het
Rhod T C 19: 4,432,801 K63E possibly damaging Het
Rtl1 T C 12: 109,592,933 E824G probably damaging Het
Sema4d A G 13: 51,708,922 F467L possibly damaging Het
Sept10 T C 10: 59,181,099 E201G probably damaging Het
Slc37a3 G A 6: 39,345,303 T389I probably benign Het
Slco2b1 C T 7: 99,685,536 A243T probably damaging Het
Sorbs2 A G 8: 45,782,874 T187A probably benign Het
Supt20 T A 3: 54,713,188 D389E probably benign Het
Tchh A G 3: 93,445,392 D713G unknown Het
Trappc10 T C 10: 78,220,242 R209G probably damaging Het
Unc119 A G 11: 78,348,176 D176G probably damaging Het
Usb1 G A 8: 95,333,484 R21Q 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
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
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 2016-08-02