Incidental Mutation 'IGL02153:Csn3'
ID 282111
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 # IGL02153
Quality Score
Status
Chromosome 5
Chromosomal Location 88073438-88080409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88077956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 154 (N154I)
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: N154I

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001667
Gene: ENSMUSG00000001622
AA Change: N154I

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: N154I

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108892
Gene: ENSMUSG00000001622
AA Change: N154I

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: N154I

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108896
Gene: ENSMUSG00000001622
AA Change: N154I

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,283,161 (GRCm39) I275T probably benign Het
Chd9 A T 8: 91,683,122 (GRCm39) K521* probably null Het
Dock2 A G 11: 34,180,670 (GRCm39) S1716P probably benign Het
Dock7 A T 4: 98,846,304 (GRCm39) S18T probably benign Het
Esrra G A 19: 6,891,190 (GRCm39) T190I probably benign Het
F13b T C 1: 139,444,115 (GRCm39) I483T probably damaging Het
Foxb1 T A 9: 69,666,985 (GRCm39) M182L probably benign Het
Fsip2 T C 2: 82,809,065 (GRCm39) F1795L probably benign Het
Gkn2 G A 6: 87,350,390 (GRCm39) probably null Het
Gm8439 G A 4: 120,466,787 (GRCm39) A93T unknown Het
Ift22 T C 5: 136,940,550 (GRCm39) S72P probably benign Het
Kcnmb2 A G 3: 32,232,993 (GRCm39) K24E probably damaging Het
Kcnq3 C A 15: 65,897,040 (GRCm39) V287L probably damaging Het
Lrriq1 T A 10: 103,006,340 (GRCm39) M1262L probably benign Het
Mb21d2 A G 16: 28,748,240 (GRCm39) I59T probably benign Het
Mogat2 A T 7: 98,872,761 (GRCm39) M141K possibly damaging Het
Mtdh C T 15: 34,131,396 (GRCm39) L409F possibly damaging Het
Muc5ac C T 7: 141,372,537 (GRCm39) Q2724* probably null Het
Myo15a T G 11: 60,389,223 (GRCm39) L2040R probably damaging Het
Nodal C T 10: 61,260,324 (GRCm39) T325I probably damaging Het
Pappa A T 4: 65,215,674 (GRCm39) T1194S probably damaging Het
Pcdhb13 A C 18: 37,576,738 (GRCm39) D372A probably damaging Het
Phf14 T A 6: 11,934,015 (GRCm39) N292K probably damaging Het
Pigr T A 1: 130,776,793 (GRCm39) probably null Het
Plcb1 T C 2: 135,229,773 (GRCm39) I1131T probably benign Het
Plch1 T A 3: 63,688,772 (GRCm39) D132V probably damaging Het
Plxnb2 C A 15: 89,050,016 (GRCm39) E502* probably null Het
Prox2 T C 12: 85,134,703 (GRCm39) N526S probably damaging Het
Rdm1 T A 11: 101,519,280 (GRCm39) probably null Het
Rxfp1 C T 3: 79,567,427 (GRCm39) E308K probably benign Het
Sgca T C 11: 94,854,110 (GRCm39) T120A probably damaging Het
Sh3tc1 G A 5: 35,860,696 (GRCm39) R1054W probably damaging Het
Smarcal1 C T 1: 72,672,214 (GRCm39) probably benign Het
Spata45 T A 1: 190,771,958 (GRCm39) M60K probably benign Het
St8sia6 T C 2: 13,661,716 (GRCm39) M372V probably damaging Het
Tas2r126 T G 6: 42,411,598 (GRCm39) S44A probably benign Het
Tcea3 T A 4: 136,000,945 (GRCm39) probably benign Het
Thoc2l A G 5: 104,668,949 (GRCm39) E1157G probably benign Het
Tln1 T C 4: 43,546,857 (GRCm39) I840V possibly damaging Het
Ttn T C 2: 76,728,685 (GRCm39) probably benign Het
Ubr4 T A 4: 139,187,471 (GRCm39) Y3846* probably null Het
Usp47 G A 7: 111,703,256 (GRCm39) D1171N probably benign Het
Vmn2r114 G A 17: 23,510,782 (GRCm39) T566I probably benign Het
Wdr35 G A 12: 9,058,535 (GRCm39) R575Q probably null Het
Xkr5 A T 8: 18,983,683 (GRCm39) C454S probably benign Het
Other mutations in Csn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Csn3 APN 5 88,078,016 (GRCm39) missense unknown
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 2015-04-16