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 NYD-SP19, 5730471K09Rik, P14L, FLJ21108
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL03104
Quality Score
Chromosome 2
Chromosomal Location 157579321-157733534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 157732885 bp (GRCm39)
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

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]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 C A 1: 58,321,918 (GRCm39) T70K probably benign Het
Armt1 T A 10: 4,389,615 (GRCm39) Y91N possibly damaging Het
Atp1a2 A G 1: 172,120,934 (GRCm39) L46S probably damaging Het
Baz1a A G 12: 54,941,743 (GRCm39) S1488P probably damaging Het
Coro7 T A 16: 4,446,990 (GRCm39) E793V probably damaging Het
Dclk2 A G 3: 86,743,666 (GRCm39) C268R probably damaging Het
Dock7 A T 4: 98,847,260 (GRCm39) M1684K possibly damaging Het
Dock8 T A 19: 25,178,384 (GRCm39) C2092* probably null Het
Dtx1 T A 5: 120,833,030 (GRCm39) Q136L possibly damaging Het
Egln3 C T 12: 54,249,981 (GRCm39) probably benign Het
Eml5 A T 12: 98,827,504 (GRCm39) Y575* probably null Het
Entpd5 A T 12: 84,431,022 (GRCm39) V310E probably damaging Het
Fkbp5 A G 17: 28,634,946 (GRCm39) F188L probably damaging Het
Frrs1 T C 3: 116,675,431 (GRCm39) S120P probably benign Het
Gadl1 T C 9: 115,903,108 (GRCm39) I479T possibly damaging Het
Gfra2 A T 14: 71,205,725 (GRCm39) M106L probably benign Het
Gm17455 T A 10: 60,239,060 (GRCm39) C108* probably null Het
Grhpr A G 4: 44,983,867 (GRCm39) probably benign Het
Hsp90ab1 G A 17: 45,882,449 (GRCm39) R82C probably damaging Het
Igsf10 T C 3: 59,226,905 (GRCm39) Y2256C probably damaging Het
Ivd A T 2: 118,703,384 (GRCm39) I160F probably benign Het
Krtap5-5 A G 7: 141,783,450 (GRCm39) C67R unknown Het
Lhx4 A T 1: 155,580,967 (GRCm39) V186E probably damaging Het
Lrrk2 T C 15: 91,631,958 (GRCm39) I1294T possibly damaging Het
Map3k5 C T 10: 20,007,801 (GRCm39) S1202L probably benign Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Mov10 G A 3: 104,704,623 (GRCm39) R763W probably damaging Het
Mto1 T C 9: 78,356,802 (GRCm39) S106P probably damaging Het
Naca C T 10: 127,876,233 (GRCm39) probably benign Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or8s10 A G 15: 98,336,127 (GRCm39) Y259C possibly damaging Het
Pan2 T C 10: 128,151,532 (GRCm39) probably benign Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Sipa1l1 T A 12: 82,388,904 (GRCm39) S377T probably benign Het
Sirpd G T 3: 15,397,283 (GRCm39) probably benign Het
Slc36a3 A G 11: 55,015,946 (GRCm39) S403P probably damaging Het
Slc4a4 A G 5: 89,297,231 (GRCm39) T480A probably damaging Het
Slu7 G A 11: 43,332,883 (GRCm39) V315I probably benign Het
St6galnac3 T C 3: 152,911,115 (GRCm39) E282G probably damaging Het
Tlr12 A G 4: 128,509,685 (GRCm39) V855A probably benign Het
Tut7 T C 13: 59,962,717 (GRCm39) D350G probably benign Het
Vmn1r53 T A 6: 90,200,944 (GRCm39) K127* probably null Het
Vmn1r72 T G 7: 11,403,812 (GRCm39) H212P probably damaging Het
Vmn2r86 T A 10: 130,282,501 (GRCm39) Q705L probably damaging Het
Vps33b C T 7: 79,925,831 (GRCm39) R93C probably damaging Het
Wdr91 T A 6: 34,882,491 (GRCm39) E219D probably benign Het
Zan G A 5: 137,461,762 (GRCm39) T1139I unknown Het
Zc3hav1 T A 6: 38,317,278 (GRCm39) K107N probably damaging Het
Zmym2 A G 14: 57,187,784 (GRCm39) E1150G possibly damaging Het
Other mutations in Ctnnbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ctnnbl1 APN 2 157,661,461 (GRCm39) missense possibly damaging 0.80
IGL01374:Ctnnbl1 APN 2 157,678,613 (GRCm39) critical splice donor site probably null
IGL01504:Ctnnbl1 APN 2 157,660,036 (GRCm39) splice site probably benign
IGL01622:Ctnnbl1 APN 2 157,661,468 (GRCm39) missense probably damaging 1.00
IGL01623:Ctnnbl1 APN 2 157,661,468 (GRCm39) missense probably damaging 1.00
IGL02146:Ctnnbl1 APN 2 157,661,414 (GRCm39) missense probably damaging 1.00
IGL02550:Ctnnbl1 APN 2 157,726,055 (GRCm39) missense probably benign 0.00
IGL03164:Ctnnbl1 APN 2 157,659,681 (GRCm39) missense probably benign
R0482:Ctnnbl1 UTSW 2 157,713,110 (GRCm39) critical splice donor site probably null
R0826:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R0827:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R0862:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R0863:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R0864:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R1466:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R1533:Ctnnbl1 UTSW 2 157,678,563 (GRCm39) missense probably benign
R2971:Ctnnbl1 UTSW 2 157,713,106 (GRCm39) missense probably benign 0.06
R3522:Ctnnbl1 UTSW 2 157,713,113 (GRCm39) splice site probably null
R4296:Ctnnbl1 UTSW 2 157,661,490 (GRCm39) splice site probably null
R4982:Ctnnbl1 UTSW 2 157,678,473 (GRCm39) missense probably benign 0.01
R5396:Ctnnbl1 UTSW 2 157,659,752 (GRCm39) splice site probably null
R5857:Ctnnbl1 UTSW 2 157,631,018 (GRCm39) missense probably damaging 1.00
R7710:Ctnnbl1 UTSW 2 157,616,491 (GRCm39) missense probably benign 0.00
R7769:Ctnnbl1 UTSW 2 157,579,390 (GRCm39) start gained probably benign
R8134:Ctnnbl1 UTSW 2 157,651,391 (GRCm39) missense probably benign 0.19
R8324:Ctnnbl1 UTSW 2 157,621,735 (GRCm39) missense probably damaging 0.97
R8384:Ctnnbl1 UTSW 2 157,659,980 (GRCm39) missense probably benign 0.01
R8430:Ctnnbl1 UTSW 2 157,678,603 (GRCm39) missense probably damaging 0.99
R9116:Ctnnbl1 UTSW 2 157,648,623 (GRCm39) missense probably damaging 1.00
R9244:Ctnnbl1 UTSW 2 157,678,583 (GRCm39) missense possibly damaging 0.63
R9350:Ctnnbl1 UTSW 2 157,651,445 (GRCm39) missense possibly damaging 0.91
Posted On 2016-08-02