Incidental Mutation 'IGL01559:Csn1s2b'
ID 90796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn1s2b
Ensembl Gene ENSMUSG00000061388
Gene Name casein alpha s2-like B
Synonyms Csne, Csnd
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01559
Quality Score
Status
Chromosome 5
Chromosomal Location 87955980-87972280 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 87968810 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P02664
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: 9,259,020 (GRCm39) N2915K possibly damaging Het
Abca5 T C 11: 110,163,352 (GRCm39) N1621S probably benign Het
Asb18 G A 1: 89,882,172 (GRCm39) S122F probably damaging Het
Atg4c A G 4: 99,106,440 (GRCm39) probably benign Het
Bbs7 T C 3: 36,648,659 (GRCm39) Y363C probably damaging Het
Celsr2 T C 3: 108,314,183 (GRCm39) T1281A possibly damaging Het
Cers1 A G 8: 70,775,883 (GRCm39) N295S probably damaging Het
Dennd6a A G 14: 26,329,720 (GRCm39) D97G probably damaging Het
Dmxl1 A G 18: 50,054,005 (GRCm39) Y2537C probably damaging Het
Dnah6 A G 6: 73,001,235 (GRCm39) probably null Het
Exoc4 A G 6: 33,243,011 (GRCm39) T75A probably damaging Het
Fbll1 T C 11: 35,688,372 (GRCm39) E297G probably damaging Het
Gm10642 T A 9: 70,563,874 (GRCm39) D152V probably damaging Het
Hdac3 A G 18: 38,076,725 (GRCm39) probably benign Het
Kif17 A G 4: 138,021,080 (GRCm39) I850V probably damaging Het
Or2l13 T C 16: 19,306,209 (GRCm39) L207P probably benign Het
Pi4kb T A 3: 94,891,440 (GRCm39) L52Q probably benign Het
Sec14l1 C A 11: 117,034,110 (GRCm39) probably null Het
Slc28a2 T A 2: 122,285,021 (GRCm39) H336Q probably damaging Het
Usp17lb A G 7: 104,490,436 (GRCm39) S164P probably damaging Het
Other mutations in Csn1s2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Csn1s2b APN 5 87,960,970 (GRCm39) missense probably damaging 1.00
IGL01785:Csn1s2b APN 5 87,957,772 (GRCm39) missense possibly damaging 0.91
IGL02689:Csn1s2b APN 5 87,957,780 (GRCm39) missense probably benign 0.41
R1596:Csn1s2b UTSW 5 87,966,917 (GRCm39) splice site probably benign
R1649:Csn1s2b UTSW 5 87,966,943 (GRCm39) missense probably benign 0.07
R1682:Csn1s2b UTSW 5 87,970,162 (GRCm39) missense probably damaging 0.98
R1747:Csn1s2b UTSW 5 87,964,529 (GRCm39) splice site probably benign
R3123:Csn1s2b UTSW 5 87,966,917 (GRCm39) splice site probably benign
R4667:Csn1s2b UTSW 5 87,970,170 (GRCm39) missense possibly damaging 0.53
R4781:Csn1s2b UTSW 5 87,966,952 (GRCm39) missense possibly damaging 0.77
R4965:Csn1s2b UTSW 5 87,961,820 (GRCm39) missense possibly damaging 0.81
R6013:Csn1s2b UTSW 5 87,972,098 (GRCm39) splice site probably null
R6730:Csn1s2b UTSW 5 87,970,127 (GRCm39) missense probably benign 0.00
R8028:Csn1s2b UTSW 5 87,966,951 (GRCm39) missense probably benign 0.01
R9651:Csn1s2b UTSW 5 87,968,820 (GRCm39) missense probably benign 0.02
Posted On 2013-12-09