Incidental Mutation 'IGL01666:Csn3'
ID103317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn3
Ensembl Gene ENSMUSG00000001622
Gene Namecasein kappa
SynonymsCSN10, Csnk
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01666
Quality Score
Status
Chromosome5
Chromosomal Location87925579-87932665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87930157 bp
ZygosityHeterozygous
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]
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
9530053A07Rik G A 7: 28,153,292 V1335M probably damaging Het
9530077C05Rik A G 9: 22,431,698 D163G probably benign Het
Adgrb3 C A 1: 25,460,751 A664S probably damaging Het
Ankrd61 T A 5: 143,891,136 L297F probably damaging Het
Chrnd A T 1: 87,198,736 S513C possibly damaging Het
Col24a1 G A 3: 145,344,686 V645M possibly damaging Het
D630039A03Rik C T 4: 57,910,570 V81I possibly damaging Het
Deptor G A 15: 55,149,379 R54Q probably damaging Het
Ell A G 8: 70,585,813 H400R probably benign Het
Itga2 A G 13: 114,837,091 probably null Het
Itpr3 A G 17: 27,117,178 I2293V probably benign Het
Mrps27 A G 13: 99,409,816 E241G probably damaging Het
Mut T C 17: 40,958,811 L687P probably damaging Het
Myh9 C T 15: 77,761,931 A1951T probably benign Het
Oca2 G A 7: 56,314,811 probably null Het
Olfr135 C T 17: 38,208,889 L215F probably benign Het
Olfr215 T A 6: 116,582,335 I204F possibly damaging Het
Ptgdr2 T C 19: 10,940,910 F264L probably benign Het
Ptpn23 T C 9: 110,386,545 T1384A possibly damaging Het
Rasgrf2 A T 13: 92,038,210 D170E probably damaging Het
Rnf20 C T 4: 49,654,486 Q848* probably null Het
Other mutations in Csn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02153:Csn3 APN 5 87930097 missense possibly damaging 0.80
IGL02936:Csn3 APN 5 87930133 missense possibly damaging 0.93
R0617:Csn3 UTSW 5 87929871 missense probably benign 0.18
R1502:Csn3 UTSW 5 87930124 missense probably damaging 0.98
R2329:Csn3 UTSW 5 87930003 missense possibly damaging 0.95
R3710:Csn3 UTSW 5 87930023 missense possibly damaging 0.63
R4514:Csn3 UTSW 5 87930138 missense unknown
R5079:Csn3 UTSW 5 87929767 missense possibly damaging 0.92
R5233:Csn3 UTSW 5 87929835 missense probably benign 0.13
R5573:Csn3 UTSW 5 87930051 missense probably benign
R5913:Csn3 UTSW 5 87927611 missense probably damaging 0.99
Posted On2014-01-21