Mutagenetix > Incidental Mutations

Incidental Mutation 'R4959:Csn1s1'

382142

Institutional Source

Beutler Lab

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

MMRRC Submission

042556-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87666208-87682578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87673261 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 33 (S33A)

Ref Sequence

ENSEMBL: ENSMUSP00000142839 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094641
AA Change: S91A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: S91A

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

probably benign
Transcript: ENSMUST00000197157
AA Change: S33A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142839
Gene: ENSMUSG00000070702
AA Change: S33A

Domain	Start	End	E-Value	Type
low complexity region	16	44	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000197631
AA Change: S91A

SMART Domains

Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: S91A

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: ENSMUST00000197794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198432

Predicted Effect

unknown
Transcript: ENSMUST00000199506
AA Change: S36A

SMART Domains

Protein: ENSMUSP00000143694
Gene: ENSMUSG00000070702
AA Change: S36A

Domain	Start	End	E-Value	Type
low complexity region	19	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200344

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.6%
20x: 89.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
6820408C15Rik	T	A	2: 152,440,888	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,457,086	C136S	probably benign	Het
Abhd16a	T	A	17: 35,102,342	S498T	probably benign	Het
Acrv1	G	A	9: 36,694,700		probably null	Het
Adamts18	G	A	8: 113,736,725	R830*	probably null	Het
Art3	A	G	5: 92,403,619	Y279C	probably damaging	Het
Atm	A	T	9: 53,515,301	D552E	probably benign	Het
Ccdc154	T	C	17: 25,170,914	L508P	probably damaging	Het
Ccser2	A	T	14: 36,940,796	S144T	probably benign	Het
Cgn	C	T	3: 94,778,254	A320T	probably benign	Het
Cklf	A	G	8: 104,261,552	K106E	probably benign	Het
Clec12a	C	A	6: 129,353,665	T70K	probably benign	Het
CN725425	G	A	15: 91,245,701	A256T	possibly damaging	Het
Crb2	G	T	2: 37,790,470	R470L	probably damaging	Het
D3Ertd254e	C	T	3: 36,164,136	R102C	possibly damaging	Het
D630045J12Rik	C	T	6: 38,148,367	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,612,014	Q58*	probably null	Het
Dph2	T	A	4: 117,891,330	D82V	probably damaging	Het
Dsp	C	T	13: 38,191,710	A1157V	probably benign	Het
Evi5l	G	T	8: 4,205,406	V477L	probably benign	Het
Fam187b	T	A	7: 30,982,262	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,543,284	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,431,210	T323A	probably benign	Het
Fat4	T	G	3: 38,983,046	S3616A	probably benign	Het
Fbxo38	A	T	18: 62,522,507	N369K	probably benign	Het
Fitm1	T	A	14: 55,576,374		probably null	Het
Fkbp5	T	C	17: 28,428,369	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,949	Y310C	possibly damaging	Het
Fryl	A	T	5: 73,035,058	M2678K	probably benign	Het
Fsip2	T	C	2: 82,984,825	I3634T	probably benign	Het
Gm3233	T	C	10: 77,759,565		probably benign	Het
Gzmd	T	G	14: 56,132,498	T9P	unknown	Het
Htr2b	A	T	1: 86,100,091	I231N	probably damaging	Het
Il2ra	A	G	2: 11,676,853	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,781,958	F60S	probably benign	Het
Kif21b	G	A	1: 136,148,370	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,703,324	D44E	probably damaging	Het
Mapk1	T	A	16: 17,018,306	M106K	probably damaging	Het
Mpp2	A	G	11: 102,063,291	V193A	probably damaging	Het
Muc4	T	C	16: 32,754,319	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,238,009	Y282H	probably damaging	Het
Nes	T	A	3: 87,975,676	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,833,202		probably null	Het
Ngef	A	G	1: 87,503,348	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,254,151	H816R	possibly damaging	Het
Olfr1178	T	A	2: 88,391,330	L28I	probably benign	Het
Olfr1204	T	C	2: 88,852,172	V74A	possibly damaging	Het
Olfr1293-ps	T	A	2: 111,527,624	F103L	probably damaging	Het
Olfr1417	A	G	19: 11,828,936	L30P	probably benign	Het
Olfr381	A	T	11: 73,486,067	Y252*	probably null	Het
Olfr453	T	C	6: 42,744,687	S217P	probably damaging	Het
Olfr855	A	G	9: 19,585,208	T224A	probably benign	Het
Pcgf2	A	T	11: 97,691,689	Y7N	possibly damaging	Het
Pdlim5	G	A	3: 142,311,979		probably benign	Het
Pdzd2	A	G	15: 12,375,648	V1467A	probably damaging	Het
Pigp	C	A	16: 94,359,147	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,843,931	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,766,318	E265K	probably benign	Het
Prl3c1	G	T	13: 27,202,488		probably null	Het
Ptpn4	A	T	1: 119,765,096	Y110*	probably null	Het
Ptprq	C	T	10: 107,686,555	V546I	probably damaging	Het
Rd3l	C	T	12: 111,980,144		probably null	Het
Rpl37	G	A	15: 5,117,646	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,042,168	H998L	probably damaging	Het
Rufy1	A	T	11: 50,401,488	F491L	probably benign	Het
Simc1	T	G	13: 54,525,318	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,174,035		probably benign	Het
Slc25a46	A	T	18: 31,602,754	I144N	possibly damaging	Het
Smtn	A	T	11: 3,527,825	M1K	probably null	Het
Snd1	C	A	6: 28,884,251	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,727,288	G811D	probably damaging	Het
Spta1	A	C	1: 174,246,608	D2371A	probably damaging	Het
Stard6	A	C	18: 70,498,560	D74A	possibly damaging	Het
Stim2	G	T	5: 54,105,370	R318L	probably benign	Het
Sufu	C	T	19: 46,475,552	T401I	possibly damaging	Het
Suz12	G	A	11: 80,029,231	G539D	probably damaging	Het
Sytl2	C	G	7: 90,376,037	S411C	probably damaging	Het
Taf6	G	A	5: 138,183,203	Q156*	probably null	Het
Tead4	T	C	6: 128,270,987	D29G	probably damaging	Het
Thada	T	C	17: 84,444,183	Y455C	probably damaging	Het
Tlr6	G	C	5: 64,953,659	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,224,677	D389G	probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Trappc9	G	T	15: 72,937,056	N540K	probably damaging	Het
Trbv29	C	T	6: 41,271,854	S106F	probably damaging	Het
Trrap	A	T	5: 144,856,960	H3384L	probably damaging	Het
Usp16	T	A	16: 87,480,914	M684K	probably damaging	Het
Vat1	G	A	11: 101,460,600	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,421,433	S544P	probably damaging	Het
Vps8	T	C	16: 21,459,786	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,049,945	V1242E	probably damaging	Het
Zfp322a	T	C	13: 23,356,882	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,224,139	V172E	probably benign	Het
Zfp936	A	T	7: 43,189,610	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,195,492	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,503,712	M21T	probably damaging	Het
Zswim4	G	T	8: 84,212,223	A1010D	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACGCTCCCTGTCTTAAATAGC -3'
(R):5'- CTTTGACAAGTAGTGGCTTTCTC -3'

Sequencing Primer
(F):5'- GCTGAGTTATTAGAATTTCCCTCAC -3'
(R):5'- GACAAGTAGTGGCTTTCTCATTTTAC -3'

Posted On

2016-04-27