Incidental Mutation 'IGL01559:Csn1s2b'
ID90796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn1s2b
Ensembl Gene ENSMUSG00000061388
Gene Namecasein alpha s2-like B
SynonymsCsnd, Csne
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01559
Quality Score
Status
Chromosome5
Chromosomal Location87808082-87824426 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 87820951 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 80 (K80*)
Ref Sequence ENSEMBL: ENSMUSP00000142449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002310] [ENSMUST00000072539] [ENSMUST00000101056] [ENSMUST00000101057] [ENSMUST00000113279] [ENSMUST00000197301]
Predicted Effect probably benign
Transcript: ENSMUST00000002310
SMART Domains Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240

DomainStartEndE-ValueType
low complexity region 49 57 N/A INTRINSIC
low complexity region 104 130 N/A INTRINSIC
low complexity region 137 153 N/A INTRINSIC
low complexity region 179 194 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000072539
AA Change: K91*
SMART Domains Protein: ENSMUSP00000072352
Gene: ENSMUSG00000061388
AA Change: K91*

DomainStartEndE-ValueType
Pfam:Casein 58 136 4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101056
SMART Domains Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240

DomainStartEndE-ValueType
low complexity region 57 65 N/A INTRINSIC
low complexity region 112 138 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101057
Predicted Effect probably null
Transcript: ENSMUST00000113279
AA Change: K86*
SMART Domains Protein: ENSMUSP00000108904
Gene: ENSMUSG00000061388
AA Change: K86*

DomainStartEndE-ValueType
Pfam:Casein 55 133 5.1e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000197301
AA Change: K80*
SMART Domains Protein: ENSMUSP00000142449
Gene: ENSMUSG00000061388
AA Change: K80*

DomainStartEndE-ValueType
Pfam:Casein 45 127 7.2e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the alpha-s2-like casein gene family, and this gene product is a calcium-sensitive casein. Members of this gene family are organized as a gene cluster that is conserved in its order, but with greater conservation amongst orthologs than paralogs. The protein encoded by this gene interacts with other casein proteins to form a micelle structure, and is a major source of protein in milk. This structure is important for the transport of calcium, phosphate, and protein. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,309,020 N2915K possibly damaging Het
Abca5 T C 11: 110,272,526 N1621S probably benign Het
Asb18 G A 1: 89,954,450 S122F probably damaging Het
Atg4c A G 4: 99,218,203 probably benign Het
Bbs7 T C 3: 36,594,510 Y363C probably damaging Het
Celsr2 T C 3: 108,406,867 T1281A possibly damaging Het
Cers1 A G 8: 70,323,233 N295S probably damaging Het
Dennd6a A G 14: 26,608,565 D97G probably damaging Het
Dmxl1 A G 18: 49,920,938 Y2537C probably damaging Het
Dnah6 A G 6: 73,024,252 probably null Het
Exoc4 A G 6: 33,266,076 T75A probably damaging Het
Fbll1 T C 11: 35,797,545 E297G probably damaging Het
Gm10642 T A 9: 70,656,592 D152V probably damaging Het
Hdac3 A G 18: 37,943,672 probably benign Het
Kif17 A G 4: 138,293,769 I850V probably damaging Het
Olfr166 T C 16: 19,487,459 L207P probably benign Het
Pi4kb T A 3: 94,984,129 L52Q probably benign Het
Sec14l1 C A 11: 117,143,284 probably null Het
Slc28a2 T A 2: 122,454,540 H336Q probably damaging Het
Usp17lb A G 7: 104,841,229 S164P probably damaging Het
Other mutations in Csn1s2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Csn1s2b APN 5 87813111 missense probably damaging 1.00
IGL01785:Csn1s2b APN 5 87809913 missense possibly damaging 0.91
IGL02689:Csn1s2b APN 5 87809921 missense probably benign 0.41
R1596:Csn1s2b UTSW 5 87819058 splice site probably benign
R1649:Csn1s2b UTSW 5 87819084 missense probably benign 0.07
R1682:Csn1s2b UTSW 5 87822303 missense probably damaging 0.98
R1747:Csn1s2b UTSW 5 87816670 splice site probably benign
R3123:Csn1s2b UTSW 5 87819058 splice site probably benign
R4667:Csn1s2b UTSW 5 87822311 missense possibly damaging 0.53
R4781:Csn1s2b UTSW 5 87819093 missense possibly damaging 0.77
R4965:Csn1s2b UTSW 5 87813961 missense possibly damaging 0.81
R6013:Csn1s2b UTSW 5 87824239 splice site probably null
R6730:Csn1s2b UTSW 5 87822268 missense probably benign 0.00
R8028:Csn1s2b UTSW 5 87819092 missense probably benign 0.01
Posted On2013-12-09