Incidental Mutation 'IGL02936:Csn3'
ID 364317
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 # IGL02936
Quality Score
Status
Chromosome 5
Chromosomal Location 88073438-88080409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 88077992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 166 (I166S)
Ref Sequence ENSEMBL: ENSMUSP00000108896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001667] [ENSMUST00000113267] [ENSMUST00000113271]
AlphaFold P06796
Predicted Effect possibly damaging
Transcript: ENSMUST00000001667
AA Change: I166S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001667
Gene: ENSMUSG00000001622
AA Change: I166S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 180 2.5e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113267
AA Change: I166S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108892
Gene: ENSMUSG00000001622
AA Change: I166S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 181 2.7e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113271
AA Change: I166S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108896
Gene: ENSMUSG00000001622
AA Change: I166S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,687 (GRCm39) T229I possibly damaging Het
Acad11 T C 9: 103,990,711 (GRCm39) S439P probably benign Het
Acer2 A T 4: 86,818,796 (GRCm39) N148I possibly damaging Het
Adgre1 A G 17: 57,785,833 (GRCm39) I860V probably benign Het
Asb2 A G 12: 103,302,173 (GRCm39) I125T probably benign Het
Atp13a2 G T 4: 140,729,260 (GRCm39) L614F probably benign Het
Car7 A G 8: 105,274,854 (GRCm39) T132A possibly damaging Het
Cfap221 T C 1: 119,912,482 (GRCm39) D135G probably damaging Het
Crtc3 A G 7: 80,239,511 (GRCm39) F614L probably damaging Het
Dna2 T G 10: 62,792,879 (GRCm39) L298R probably damaging Het
Ece1 T C 4: 137,673,612 (GRCm39) S387P probably benign Het
Fbxo28 C T 1: 182,169,093 (GRCm39) G15D unknown Het
Fbxw24 A T 9: 109,454,026 (GRCm39) probably null Het
Foxd3 T A 4: 99,545,052 (GRCm39) V64E probably benign Het
Galnt7 A C 8: 58,037,248 (GRCm39) V47G probably benign Het
Gcc2 A T 10: 58,131,962 (GRCm39) L1453F probably damaging Het
Gcnt4 G A 13: 97,082,919 (GRCm39) V72I probably benign Het
Gm10269 A C 18: 20,816,010 (GRCm39) probably null Het
Hmcn1 T G 1: 150,573,273 (GRCm39) Q2125H probably damaging Het
Iho1 T C 9: 108,289,702 (GRCm39) I173M possibly damaging Het
Llcfc1 T A 6: 41,661,593 (GRCm39) S48T probably benign Het
Met G T 6: 17,553,396 (GRCm39) V1061F probably damaging Het
Mthfd2 G A 6: 83,288,342 (GRCm39) H138Y probably damaging Het
Mtus1 A T 8: 41,452,554 (GRCm39) D1041E possibly damaging Het
Mug2 G A 6: 122,058,346 (GRCm39) probably null Het
Nos3 C T 5: 24,585,991 (GRCm39) T878I probably damaging Het
Or4c15 A G 2: 88,760,128 (GRCm39) M177T probably benign Het
Or52b1 A T 7: 104,979,212 (GRCm39) Y62* probably null Het
Pbrm1 T A 14: 30,783,470 (GRCm39) V497D probably damaging Het
Plcd1 T C 9: 118,903,267 (GRCm39) E471G probably damaging Het
Poc1a A G 9: 106,162,226 (GRCm39) T84A probably damaging Het
Ppm1f A G 16: 16,733,100 (GRCm39) H209R probably damaging Het
Rccd1 T A 7: 79,966,794 (GRCm39) K329N probably damaging Het
Serpinb9g A T 13: 33,678,865 (GRCm39) N245I possibly damaging Het
Slc22a26 A C 19: 7,768,470 (GRCm39) F196V probably damaging Het
Tial1 G A 7: 128,044,387 (GRCm39) probably benign Het
Trpa1 A T 1: 14,946,193 (GRCm39) probably null Het
Vmn1r15 A T 6: 57,235,803 (GRCm39) K224* probably null Het
Wdr72 A T 9: 74,059,862 (GRCm39) D424V probably damaging Het
Wt1 A G 2: 104,999,384 (GRCm39) K308E probably damaging Het
Zwint T C 10: 72,492,956 (GRCm39) S193P probably damaging Het
Other mutations in Csn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Csn3 APN 5 88,078,016 (GRCm39) missense unknown
IGL02153:Csn3 APN 5 88,077,956 (GRCm39) missense possibly damaging 0.80
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 2015-12-18