Incidental Mutation 'IGL02183:Csn1s1'
ID 284324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn1s1
Ensembl Gene ENSMUSG00000070702
Gene Name casein alpha s1
Synonyms Csna
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02183
Quality Score
Status
Chromosome 5
Chromosomal Location 87814067-87830437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87825477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 228 (S228N)
Ref Sequence ENSEMBL: ENSMUSP00000142794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094641] [ENSMUST00000197157] [ENSMUST00000197631] [ENSMUST00000199506]
AlphaFold P19228
Predicted Effect possibly damaging
Transcript: ENSMUST00000094641
AA Change: S228N

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: S228N

DomainStartEndE-ValueType
low complexity region 26 36 N/A INTRINSIC
low complexity region 74 102 N/A INTRINSIC
internal_repeat_1 117 148 7.63e-5 PROSPERO
internal_repeat_1 141 172 7.63e-5 PROSPERO
low complexity region 173 198 N/A INTRINSIC
Pfam:Casein 215 304 5.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197157
SMART Domains Protein: ENSMUSP00000142839
Gene: ENSMUSG00000070702

DomainStartEndE-ValueType
low complexity region 16 44 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000197631
AA Change: S228N

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: S228N

DomainStartEndE-ValueType
low complexity region 26 36 N/A INTRINSIC
low complexity region 74 102 N/A INTRINSIC
internal_repeat_1 117 148 3.17e-5 PROSPERO
internal_repeat_1 141 172 3.17e-5 PROSPERO
low complexity region 173 198 N/A INTRINSIC
Pfam:Casein 215 282 4.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199533
Predicted Effect probably benign
Transcript: ENSMUST00000199506
SMART Domains Protein: ENSMUSP00000143694
Gene: ENSMUSG00000070702

DomainStartEndE-ValueType
low complexity region 19 47 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display reduced milk prodution and abnormal milk composition with reduced protein, calcium and phosphate concentrations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Apcdd1 T C 18: 63,084,925 (GRCm39) M374T probably damaging Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Celf1 C T 2: 90,831,831 (GRCm39) P96S probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Ctnnd2 A G 15: 31,020,886 (GRCm39) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or14j1 G T 17: 38,146,304 (GRCm39) C138F probably damaging Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pan2 T A 10: 128,144,944 (GRCm39) H230Q possibly damaging Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Ppargc1b T A 18: 61,442,167 (GRCm39) probably null Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Serpinb13 T C 1: 106,926,640 (GRCm39) M212T probably damaging Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S probably benign Het
Other mutations in Csn1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Csn1s1 APN 5 87,815,118 (GRCm39) missense probably benign 0.03
IGL01984:Csn1s1 APN 5 87,824,369 (GRCm39) unclassified probably benign
IGL02335:Csn1s1 APN 5 87,828,704 (GRCm39) missense probably benign 0.09
IGL02496:Csn1s1 APN 5 87,825,453 (GRCm39) unclassified probably benign
IGL02502:Csn1s1 APN 5 87,828,784 (GRCm39) missense probably benign 0.06
IGL02622:Csn1s1 APN 5 87,825,501 (GRCm39) critical splice donor site probably null
IGL03403:Csn1s1 APN 5 87,815,152 (GRCm39) missense probably benign 0.19
R0004:Csn1s1 UTSW 5 87,819,390 (GRCm39) missense probably benign 0.01
R0472:Csn1s1 UTSW 5 87,825,486 (GRCm39) missense possibly damaging 0.71
R1076:Csn1s1 UTSW 5 87,824,242 (GRCm39) splice site probably null
R1364:Csn1s1 UTSW 5 87,825,443 (GRCm39) unclassified probably benign
R1761:Csn1s1 UTSW 5 87,826,894 (GRCm39) missense probably benign 0.32
R2056:Csn1s1 UTSW 5 87,819,387 (GRCm39) missense possibly damaging 0.66
R2937:Csn1s1 UTSW 5 87,824,995 (GRCm39) missense possibly damaging 0.52
R2938:Csn1s1 UTSW 5 87,824,995 (GRCm39) missense possibly damaging 0.52
R3793:Csn1s1 UTSW 5 87,828,702 (GRCm39) nonsense probably null
R4274:Csn1s1 UTSW 5 87,828,820 (GRCm39) makesense probably null
R4568:Csn1s1 UTSW 5 87,828,763 (GRCm39) missense possibly damaging 0.51
R4959:Csn1s1 UTSW 5 87,821,120 (GRCm39) missense probably benign 0.27
R4973:Csn1s1 UTSW 5 87,821,120 (GRCm39) missense probably benign 0.27
R5133:Csn1s1 UTSW 5 87,828,737 (GRCm39) missense possibly damaging 0.92
R5611:Csn1s1 UTSW 5 87,825,503 (GRCm39) splice site probably null
R6008:Csn1s1 UTSW 5 87,825,944 (GRCm39) critical splice donor site probably null
R6663:Csn1s1 UTSW 5 87,823,599 (GRCm39) missense probably benign 0.33
R6940:Csn1s1 UTSW 5 87,822,882 (GRCm39) missense possibly damaging 0.46
R7164:Csn1s1 UTSW 5 87,822,087 (GRCm39) missense possibly damaging 0.53
R7990:Csn1s1 UTSW 5 87,827,912 (GRCm39) missense possibly damaging 0.92
R7998:Csn1s1 UTSW 5 87,822,087 (GRCm39) missense possibly damaging 0.53
R8729:Csn1s1 UTSW 5 87,824,998 (GRCm39) critical splice donor site probably null
R8950:Csn1s1 UTSW 5 87,824,482 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16