Mutagenetix > Incidental Mutations

Incidental Mutation 'R4568:Csn1s1'

341937

Institutional Source

Beutler Lab

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

MMRRC Submission

041792-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87666208-87682578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87680904 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 276 (V276I)

Ref Sequence

ENSEMBL: ENSMUSP00000142794 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094641
AA Change: V295I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: V295I

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

possibly damaging
Transcript: ENSMUST00000197631
AA Change: V276I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: V276I

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: ENSMUST00000198432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199533

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,563,517	W5R	probably benign	Het
Bik	T	C	15: 83,541,444		probably null	Het
Col6a1	A	T	10: 76,719,197		probably benign	Het
Crem	A	G	18: 3,299,175	I83T	probably damaging	Het
Ctnna3	C	T	10: 63,852,809	T344M	possibly damaging	Het
Dgcr8	G	A	16: 18,280,394	P378S	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Fam208a	A	T	14: 27,476,701		probably null	Het
Gpr139	C	T	7: 119,144,805	V186M	probably damaging	Het
Krba1	A	G	6: 48,409,723	T422A	probably damaging	Het
Lgals8	T	G	13: 12,453,373	Y125S	probably damaging	Het
Map4k1	G	A	7: 28,986,654	G107D	probably damaging	Het
Mfsd6	A	T	1: 52,663,289	Y599*	probably null	Het
Olfr1411	A	T	1: 92,597,391	M291L	probably benign	Het
Olfr412	A	G	11: 74,365,209	E180G	probably damaging	Het
Omt2b	T	A	9: 78,328,247		probably benign	Het
Pga5	A	G	19: 10,671,852	Y235H	probably damaging	Het
Phldb2	T	A	16: 45,777,718	K869*	probably null	Het
Pik3cb	T	C	9: 99,090,302	M268V	probably benign	Het
Pla2g4a	T	C	1: 149,842,226	D624G	probably benign	Het
Plxna4	T	A	6: 32,152,938	I1817F	probably damaging	Het
Psmg3	A	G	5: 139,826,249	I32T	probably damaging	Het
Ptpn4	T	C	1: 119,680,059	E757G	probably damaging	Het
Rasl2-9	AGG	A	7: 5,125,375		probably null	Het
Ripply3	T	A	16: 94,335,829	D116E	probably damaging	Het
Robo4	T	C	9: 37,404,822	V263A	possibly damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Spef2	T	C	15: 9,647,217	H1008R	probably damaging	Het
Stag1	T	C	9: 100,848,669	V379A	probably damaging	Het
Tbc1d9	A	G	8: 83,271,177	E1121G	probably benign	Het
Tpr	T	C	1: 150,392,959		probably benign	Het
Trpv6	G	T	6: 41,626,569	P206H	probably damaging	Het
Vmn2r63	T	C	7: 42,933,826		probably null	Het
Vmn2r65	C	T	7: 84,947,469	C126Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGTGACCTTAAGAAGCTG -3'
(R):5'- CTCTCCGTGTTACTGAGAAGG -3'

Sequencing Primer
(F):5'- CTGAGATACAGCTCTTGAGAGACAC -3'
(R):5'- GCATGACATCATCACTGACTGGTC -3'

Posted On

2015-09-24