Incidental Mutation 'IGL01666:Csn3'
ID 103317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn3
Ensembl Gene ENSMUSG00000001622
Gene Name casein kappa
Synonyms Csnk, CSN10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01666
Quality Score
Status
Chromosome 5
Chromosomal Location 88073438-88080409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88078016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 174 (V174A)
Ref Sequence ENSEMBL: ENSMUSP00000108896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001667] [ENSMUST00000113267] [ENSMUST00000113271]
AlphaFold P06796
Predicted Effect unknown
Transcript: ENSMUST00000001667
AA Change: V174A
SMART Domains Protein: ENSMUSP00000001667
Gene: ENSMUSG00000001622
AA Change: V174A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 180 2.5e-64 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000113267
AA Change: V174A
SMART Domains Protein: ENSMUSP00000108892
Gene: ENSMUSG00000001622
AA Change: V174A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 181 2.7e-70 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000113271
AA Change: V174A
SMART Domains Protein: ENSMUSP00000108896
Gene: ENSMUSG00000001622
AA Change: V174A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 181 2.7e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display lactation failure and abnormal milk composition, but are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,499,832 (GRCm39) A664S probably damaging Het
Ankrd61 T A 5: 143,827,954 (GRCm39) L297F probably damaging Het
Chrnd A T 1: 87,126,458 (GRCm39) S513C possibly damaging Het
Col24a1 G A 3: 145,050,447 (GRCm39) V645M possibly damaging Het
D630039A03Rik C T 4: 57,910,570 (GRCm39) V81I possibly damaging Het
Deptor G A 15: 55,012,775 (GRCm39) R54Q probably damaging Het
Ell A G 8: 71,038,463 (GRCm39) H400R probably benign Het
Fcgbpl1 G A 7: 27,852,717 (GRCm39) V1335M probably damaging Het
Itga2 A G 13: 114,973,627 (GRCm39) probably null Het
Itpr3 A G 17: 27,336,152 (GRCm39) I2293V probably benign Het
Matcap2 A G 9: 22,342,994 (GRCm39) D163G probably benign Het
Mmut T C 17: 41,269,702 (GRCm39) L687P probably damaging Het
Mrps27 A G 13: 99,546,324 (GRCm39) E241G probably damaging Het
Myh9 C T 15: 77,646,131 (GRCm39) A1951T probably benign Het
Oca2 G A 7: 55,964,559 (GRCm39) probably null Het
Or2n1c C T 17: 38,519,780 (GRCm39) L215F probably benign Het
Or6d15 T A 6: 116,559,296 (GRCm39) I204F possibly damaging Het
Ptgdr2 T C 19: 10,918,274 (GRCm39) F264L probably benign Het
Ptpn23 T C 9: 110,215,613 (GRCm39) T1384A possibly damaging Het
Rasgrf2 A T 13: 92,174,718 (GRCm39) D170E probably damaging Het
Rnf20 C T 4: 49,654,486 (GRCm39) Q848* probably null Het
Other mutations in Csn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02153:Csn3 APN 5 88,077,956 (GRCm39) missense possibly damaging 0.80
IGL02936:Csn3 APN 5 88,077,992 (GRCm39) missense possibly damaging 0.93
R0617:Csn3 UTSW 5 88,077,730 (GRCm39) missense probably benign 0.18
R1502:Csn3 UTSW 5 88,077,983 (GRCm39) missense probably damaging 0.98
R2329:Csn3 UTSW 5 88,077,862 (GRCm39) missense possibly damaging 0.95
R3710:Csn3 UTSW 5 88,077,882 (GRCm39) missense possibly damaging 0.63
R4514:Csn3 UTSW 5 88,077,997 (GRCm39) missense unknown
R5079:Csn3 UTSW 5 88,077,626 (GRCm39) missense possibly damaging 0.92
R5233:Csn3 UTSW 5 88,077,694 (GRCm39) missense probably benign 0.13
R5573:Csn3 UTSW 5 88,077,910 (GRCm39) missense probably benign
R5913:Csn3 UTSW 5 88,075,470 (GRCm39) missense probably damaging 0.99
R7175:Csn3 UTSW 5 88,077,586 (GRCm39) missense probably damaging 0.98
R7577:Csn3 UTSW 5 88,077,821 (GRCm39) missense not run
R8953:Csn3 UTSW 5 88,077,809 (GRCm39) missense possibly damaging 0.85
R9422:Csn3 UTSW 5 88,077,872 (GRCm39) missense probably benign 0.11
Posted On 2014-01-21