Mutagenetix > Incidental Mutation

Incidental Mutation 'R6663:Csn1s1'

526868

Institutional Source

Beutler Lab

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87666208-87682578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87675740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 154 (V154A)

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: V154A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: V154A

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

unknown
Transcript: ENSMUST00000197157
AA Change: Y129H

SMART Domains

Protein: ENSMUSP00000142839
Gene: ENSMUSG00000070702
AA Change: Y129H

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

Predicted Effect

unknown
Transcript: ENSMUST00000197631
AA Change: V154A

SMART Domains

Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: V154A

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: ENSMUST00000198293

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	G	5: 90,264,064	S1314P	probably damaging	Het
Btbd3	T	A	2: 138,279,083	I59K	probably benign	Het
Clcn2	A	G	16: 20,703,245	*865R	probably null	Het
Col22a1	T	C	15: 71,820,059	Q749R	unknown	Het
Cpsf2	T	C	12: 101,999,593	Y606H	probably damaging	Het
Cux1	T	A	5: 136,485,847	E23V	probably damaging	Het
Cyp2j9	C	A	4: 96,579,442	W269L	probably benign	Het
Dbf4	T	C	5: 8,403,184	M273V	probably benign	Het
Dnhd1	A	G	7: 105,685,692		probably null	Het
Fezf1	A	G	6: 23,247,528	S183P	probably damaging	Het
Irx2	A	G	13: 72,629,129	Y23C	probably damaging	Het
Itga1	A	T	13: 114,974,105	N983K	probably benign	Het
Kifc1	A	G	17: 33,881,456		probably benign	Het
Lrrc14b	T	C	13: 74,361,361	N309S	probably damaging	Het
Lyst	A	T	13: 13,664,116		probably null	Het
Map1b	T	C	13: 99,430,022	T2064A	unknown	Het
Mark3	T	A	12: 111,575,083	N11K	probably benign	Het
Med6	T	A	12: 81,581,875	D80V	possibly damaging	Het
Mfhas1	A	G	8: 35,589,118	E249G	probably damaging	Het
Mroh2b	A	G	15: 4,947,935	I1256M	probably benign	Het
Nkx2-9	G	T	12: 56,611,938	R164S	probably benign	Het
Olfr1181	T	A	2: 88,423,350	N225I	probably benign	Het
Phf10	T	C	17: 14,959,512	D33G	probably null	Het
Plekha5	A	G	6: 140,577,290	M719V	probably damaging	Het
Pln	A	G	10: 53,343,696		probably benign	Het
Prg4	G	A	1: 150,455,101		probably benign	Het
Slc35b3	A	G	13: 38,954,136	L99P	probably damaging	Het
Tbccd1	AT	ATGT	16: 22,834,028		probably null	Het
Ube2j1	C	T	4: 33,045,198	S157L	probably damaging	Het
Zfp462	A	G	4: 55,008,933	T300A	possibly damaging	Het
Zfp668	G	A	7: 127,867,769	R212C	probably damaging	Het
Zufsp	A	G	10: 33,949,435	M17T	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGCTTCCCTGGCTAAGG -3'
(R):5'- ATCCTCCTCTTAGCATATTGATTGG -3'

Sequencing Primer
(F):5'- TTCCCTGTTTCAGGTGAG -3'
(R):5'- CCTCTTAGCATATTGATTGGCATATG -3'

Posted On

2018-07-23