Incidental Mutation 'IGL03104:Ctnnbl1'
ID 418866
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 # IGL03104
Quality Score
Status
Chromosome 2
Chromosomal Location 157737401-157891614 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 157890965 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 555 (R555L)
Ref Sequence ENSEMBL: ENSMUSP00000029178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029178]
AlphaFold Q9CWL8
Predicted Effect probably damaging
Transcript: ENSMUST00000029178
AA Change: R555L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: R555L

DomainStartEndE-ValueType
DUF1716 52 162 3.97e-61 SMART
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 C A 1: 58,282,759 T70K probably benign Het
Armt1 T A 10: 4,439,615 Y91N possibly damaging Het
Atp1a2 A G 1: 172,293,367 L46S probably damaging Het
Baz1a A G 12: 54,894,958 S1488P probably damaging Het
Coro7 T A 16: 4,629,126 E793V probably damaging Het
Dclk2 A G 3: 86,836,359 C268R probably damaging Het
Dock7 A T 4: 98,959,023 M1684K possibly damaging Het
Dock8 T A 19: 25,201,020 C2092* probably null Het
Dtx1 T A 5: 120,694,965 Q136L possibly damaging Het
Egln3 C T 12: 54,203,195 probably benign Het
Eml5 A T 12: 98,861,245 Y575* probably null Het
Entpd5 A T 12: 84,384,248 V310E probably damaging Het
Fkbp5 A G 17: 28,415,972 F188L probably damaging Het
Frrs1 T C 3: 116,881,782 S120P probably benign Het
Gadl1 T C 9: 116,074,040 I479T possibly damaging Het
Gfra2 A T 14: 70,968,285 M106L probably benign Het
Gm17455 T A 10: 60,403,281 C108* probably null Het
Gm9733 G T 3: 15,332,223 probably benign Het
Grhpr A G 4: 44,983,867 probably benign Het
Hsp90ab1 G A 17: 45,571,523 R82C probably damaging Het
Igsf10 T C 3: 59,319,484 Y2256C probably damaging Het
Ivd A T 2: 118,872,903 I160F probably benign Het
Krtap5-5 A G 7: 142,229,713 C67R unknown Het
Lhx4 A T 1: 155,705,221 V186E probably damaging Het
Lrrk2 T C 15: 91,747,755 I1294T possibly damaging Het
Map3k5 C T 10: 20,132,055 S1202L probably benign Het
Mdfic T A 6: 15,770,320 N108K probably damaging Het
Mov10 G A 3: 104,797,307 R763W probably damaging Het
Mto1 T C 9: 78,449,520 S106P probably damaging Het
Naca C T 10: 128,040,364 probably benign Het
Olfr1408 A G 1: 173,130,959 V86A probably benign Het
Olfr282 A G 15: 98,438,246 Y259C possibly damaging Het
Pan2 T C 10: 128,315,663 probably benign Het
Pold1 T C 7: 44,540,580 Y394C probably damaging Het
Sipa1l1 T A 12: 82,342,130 S377T probably benign Het
Slc36a3 A G 11: 55,125,120 S403P probably damaging Het
Slc4a4 A G 5: 89,149,372 T480A probably damaging Het
Slu7 G A 11: 43,442,056 V315I probably benign Het
St6galnac3 T C 3: 153,205,478 E282G probably damaging Het
Tlr12 A G 4: 128,615,892 V855A probably benign Het
Vmn1r53 T A 6: 90,223,962 K127* probably null Het
Vmn1r72 T G 7: 11,669,885 H212P probably damaging Het
Vmn2r86 T A 10: 130,446,632 Q705L probably damaging Het
Vps33b C T 7: 80,276,083 R93C probably damaging Het
Wdr91 T A 6: 34,905,556 E219D probably benign Het
Zan G A 5: 137,463,500 T1139I unknown Het
Zc3hav1 T A 6: 38,340,343 K107N probably damaging Het
Zcchc6 T C 13: 59,814,903 D350G probably benign Het
Zmym2 A G 14: 56,950,327 E1150G possibly 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
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 2016-08-02