Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02496:Csn1s1'

295872

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 #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

87666208-87682578 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 87677594 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094641] [ENSMUST00000197157] [ENSMUST00000197631] [ENSMUST00000199506]

AlphaFold

P19228

Predicted Effect

probably benign
Transcript: ENSMUST00000094641

SMART Domains

Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702

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

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

probably benign
Transcript: ENSMUST00000197631

SMART Domains

Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702

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: 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

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

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
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
R8729:Csn1s1	UTSW	5	87677139	critical splice donor site	probably null
R8950:Csn1s1	UTSW	5	87676623	critical splice donor site	probably null

Posted On

2015-04-16