Incidental Mutation 'IGL02496:Csn1s1'
ID295872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn1s1
Ensembl Gene ENSMUSG00000070702
Gene Namecasein alpha s1
SynonymsCsna
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02496
Quality Score
Status
Chromosome5
Chromosomal Location87666208-87682578 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 87677594 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094641] [ENSMUST00000197157] [ENSMUST00000197631] [ENSMUST00000199506]
Predicted Effect probably benign
Transcript: ENSMUST00000094641
SMART Domains Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702

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 probably benign
Transcript: ENSMUST00000197631
SMART Domains Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702

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 probably benign
Transcript: ENSMUST00000199506
SMART Domains Protein: ENSMUSP00000143694
Gene: ENSMUSG00000070702

DomainStartEndE-ValueType
low complexity region 19 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200344
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,288,553 H1456P possibly damaging Het
Abcg1 C A 17: 31,105,604 H274Q probably damaging Het
Adamts4 G A 1: 171,250,943 R44Q probably benign Het
Amigo2 A T 15: 97,245,613 C309* probably null Het
Ccdc88c A C 12: 100,953,293 S446A probably benign Het
Cd9 A T 6: 125,472,495 V28E probably damaging Het
Cops2 A T 2: 125,836,243 probably benign Het
Cul9 G T 17: 46,540,376 R373S possibly damaging Het
D630045J12Rik G T 6: 38,149,705 H1457N probably damaging Het
Dnah9 A G 11: 66,029,363 S2235P probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo10 A T 4: 45,043,883 W647R probably damaging Het
Flnb T A 14: 7,930,919 probably benign Het
Flnc G T 6: 29,440,685 V301L probably damaging Het
Hfm1 T C 5: 106,901,761 S445G probably benign Het
Hif3a A G 7: 17,039,678 probably benign Het
Hsd17b4 T C 18: 50,155,153 Y217H probably damaging Het
Iba57 T C 11: 59,158,946 T192A probably benign Het
Igkv5-48 A T 6: 69,726,687 I78N probably damaging Het
Inhbe A T 10: 127,350,928 W128R probably damaging Het
Ism1 T C 2: 139,757,201 C365R probably damaging Het
Kif19a A T 11: 114,779,644 T127S probably damaging Het
Kmt2d C A 15: 98,857,558 probably benign Het
Mmp20 A G 9: 7,654,041 R321G probably damaging Het
Msl2 T C 9: 101,100,655 M76T possibly damaging Het
Nme9 T C 9: 99,469,631 C223R probably damaging Het
Nucb1 G T 7: 45,495,043 probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1450 T A 19: 12,954,192 I201N possibly damaging Het
Olfr449 A C 6: 42,838,804 I308L probably benign Het
Olfr46 A C 7: 140,610,168 M1L probably benign Het
P4ha1 A G 10: 59,371,002 probably null Het
Parp8 T C 13: 116,862,302 probably benign Het
Pcdhb6 A G 18: 37,335,454 D476G probably damaging Het
Pikfyve A G 1: 65,264,376 E1685G possibly damaging Het
Plod2 T A 9: 92,607,094 L714Q probably damaging Het
Plscr2 A G 9: 92,289,663 I103V probably benign Het
Plscr3 C A 11: 69,847,383 probably benign Het
Pmaip1 A G 18: 66,463,299 R80G probably damaging Het
Ppm1d C T 11: 85,339,666 P370L possibly damaging Het
Prr36 C A 8: 4,216,407 E48* probably null Het
Ptgir G A 7: 16,907,484 V234I possibly damaging Het
Ptk7 A T 17: 46,590,144 V219E probably benign Het
Rab39b T A X: 75,575,003 I74F probably damaging Het
Rasal2 A T 1: 157,149,879 M1075K possibly damaging Het
Rpl37a G A 1: 72,711,726 A20T probably null Het
Serpinb10 A C 1: 107,538,425 probably null Het
Sipa1l1 T A 12: 82,425,094 Y1283N probably damaging Het
Slc22a23 T A 13: 34,344,485 I105F possibly damaging Het
Slc25a20 T A 9: 108,682,400 I221N probably damaging Het
Smarcal1 A T 1: 72,620,088 H691L probably damaging Het
Smo A C 6: 29,758,481 T542P probably damaging Het
Spats2 T A 15: 99,173,448 I51N probably damaging Het
Spon1 G T 7: 114,036,662 V704L probably benign Het
St5 C A 7: 109,556,235 R436L possibly damaging Het
Tex9 T A 9: 72,482,492 Q112L probably benign Het
Tgfbr2 T C 9: 116,090,418 E580G probably benign Het
Top2b T A 14: 16,387,335 V141E probably benign Het
Trhde A T 10: 114,800,561 L247* probably null Het
Umodl1 G T 17: 30,998,654 V1145F probably damaging Het
Vasp C A 7: 19,258,823 probably benign Het
Vmn1r8 G T 6: 57,036,571 L202F probably damaging Het
Vmn2r111 T C 17: 22,568,856 T505A probably benign Het
Wdr27 A G 17: 14,892,431 probably benign Het
Wfdc1 T G 8: 119,680,170 V109G probably damaging Het
Zan C A 5: 137,464,794 E708* probably null Het
Zbtb1 T A 12: 76,385,395 F52I possibly damaging Het
Zfp236 A G 18: 82,629,992 S1015P probably damaging Het
Zfp532 T C 18: 65,624,042 S349P probably damaging Het
Znfx1 A T 2: 167,047,630 C731S possibly damaging Het
Other mutations in Csn1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Csn1s1 APN 5 87667259 missense probably benign 0.03
IGL01984:Csn1s1 APN 5 87676510 unclassified probably benign
IGL02183:Csn1s1 APN 5 87677618 missense possibly damaging 0.52
IGL02335:Csn1s1 APN 5 87680845 missense probably benign 0.09
IGL02502:Csn1s1 APN 5 87680925 missense probably benign 0.06
IGL02622:Csn1s1 APN 5 87677642 critical splice donor site probably null
IGL03403:Csn1s1 APN 5 87667293 missense probably benign 0.19
R0004:Csn1s1 UTSW 5 87671531 missense probably benign 0.01
R0472:Csn1s1 UTSW 5 87677627 missense possibly damaging 0.71
R1076:Csn1s1 UTSW 5 87676383 splice site probably null
R1364:Csn1s1 UTSW 5 87677584 unclassified probably benign
R1761:Csn1s1 UTSW 5 87679035 missense probably benign 0.32
R2056:Csn1s1 UTSW 5 87671528 missense possibly damaging 0.66
R2937:Csn1s1 UTSW 5 87677136 missense possibly damaging 0.52
R2938:Csn1s1 UTSW 5 87677136 missense possibly damaging 0.52
R3793:Csn1s1 UTSW 5 87680843 nonsense probably null
R4274:Csn1s1 UTSW 5 87680961 makesense probably null
R4568:Csn1s1 UTSW 5 87680904 missense possibly damaging 0.51
R4959:Csn1s1 UTSW 5 87673261 missense probably benign 0.27
R4973:Csn1s1 UTSW 5 87673261 missense probably benign 0.27
R5133:Csn1s1 UTSW 5 87680878 missense possibly damaging 0.92
R5611:Csn1s1 UTSW 5 87677644 splice site probably null
R6008:Csn1s1 UTSW 5 87678085 critical splice donor site probably null
R6663:Csn1s1 UTSW 5 87675740 missense probably benign 0.33
R6940:Csn1s1 UTSW 5 87675023 missense possibly damaging 0.46
R7164:Csn1s1 UTSW 5 87674228 missense possibly damaging 0.53
R7990:Csn1s1 UTSW 5 87680053 missense possibly damaging 0.92
R7998:Csn1s1 UTSW 5 87674228 missense possibly damaging 0.53
Posted On2015-04-16