Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03403:Csn1s1'

421484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03403

Quality Score

Status

Chromosome

Chromosomal Location

87666208-87682578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87667293 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

P19228

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8729:Csn1s1	UTSW	5	87677139	critical splice donor site	probably null
R8950:Csn1s1	UTSW	5	87676623	critical splice donor site	probably null

Posted On

2016-08-02