Incidental Mutation 'IGL03403:Csn1s1'
ID421484
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 #IGL03403
Quality Score
Status
Chromosome5
Chromosomal Location87666208-87682578 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87667293 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 16 (M16K)
Ref Sequence ENSEMBL: ENSMUSP00000092225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094641] [ENSMUST00000197157] [ENSMUST00000197631] [ENSMUST00000199506]
Predicted Effect probably benign
Transcript: ENSMUST00000094641
AA Change: M16K

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: M16K

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 noncoding transcript
Transcript: ENSMUST00000196380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196500
Predicted Effect probably benign
Transcript: ENSMUST00000197157
SMART Domains Protein: ENSMUSP00000142839
Gene: ENSMUSG00000070702

DomainStartEndE-ValueType
low complexity region 16 44 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000197631
AA Change: M16K
SMART Domains Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: M16K

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: ENSMUST00000197911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198293
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: ENSMUST00000200344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200567
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A C 15: 8,201,342 K1034N probably damaging Het
Adamts12 T A 15: 11,241,488 I382N probably damaging Het
Adamts5 T C 16: 85,863,014 T797A probably damaging Het
Ahr A T 12: 35,504,326 V598E possibly damaging Het
Akap10 A G 11: 61,915,273 S210P probably benign Het
Asb5 G T 8: 54,583,547 probably benign Het
AU041133 T C 10: 82,138,344 V31A probably damaging Het
Bcar3 T C 3: 122,512,969 V197A probably benign Het
Bptf A G 11: 107,099,733 V510A possibly damaging Het
Ccar2 A T 14: 70,140,068 D712E probably damaging Het
Cenpt G A 8: 105,849,665 Q85* probably null Het
Ciita C A 16: 10,503,872 H98N probably damaging Het
Fah A G 7: 84,593,209 I297T probably damaging Het
Fbxo25 A G 8: 13,929,423 N214D probably benign Het
Frem3 A C 8: 80,611,090 D4A probably benign Het
Gm12800 T C 4: 101,909,928 S125P probably benign Het
Gm3409 A G 5: 146,539,524 K162E probably benign Het
Gxylt1 T C 15: 93,261,775 D148G possibly damaging Het
Hoxd4 A T 2: 74,728,337 E168V possibly damaging Het
Ifna6 A G 4: 88,827,458 S15G possibly damaging Het
Iqck T A 7: 118,876,271 H97Q probably benign Het
Kif16b T A 2: 142,711,869 E1003V probably damaging Het
Lrp1b G A 2: 40,702,824 P3761L probably benign Het
Mc4r C T 18: 66,859,526 C172Y possibly damaging Het
Olfr373 A G 8: 72,100,497 T246A probably benign Het
Oosp1 T A 19: 11,687,380 N104I probably damaging Het
Pram1 A T 17: 33,642,143 I513F probably damaging Het
Rasef A G 4: 73,734,534 S577P probably damaging Het
Rfx8 T C 1: 39,690,173 D144G possibly damaging Het
Rreb1 A C 13: 37,929,574 N303T possibly damaging Het
Rrn3 A T 16: 13,799,945 K351* probably null Het
Sox30 A T 11: 46,017,208 E734V probably damaging Het
Spns1 C T 7: 126,371,536 probably null Het
Tgfbr2 T A 9: 116,110,302 E177D probably benign Het
Tnfaip8l3 A G 9: 54,027,457 M78T possibly damaging Het
Vmn2r92 C T 17: 18,166,852 T151I probably damaging Het
Wwc1 A G 11: 35,915,284 Y41H possibly damaging Het
Zfp407 A T 18: 84,560,797 N730K probably 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
IGL02496:Csn1s1 APN 5 87677594 unclassified probably benign
IGL02502:Csn1s1 APN 5 87680925 missense probably benign 0.06
IGL02622:Csn1s1 APN 5 87677642 critical splice donor site probably null
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 On2016-08-02