Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Csn1s1'

438016

Institutional Source

Beutler Lab

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87814067-87830437 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to T at 87825503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142794 (fasta)

Gene Model

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

AlphaFold

P19228

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000200344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199533

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	probably damaging	Het

Other mutations in Csn1s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Csn1s1	APN	5	87,815,118 (GRCm39)	missense	probably benign	0.03
IGL01984:Csn1s1	APN	5	87,824,369 (GRCm39)	unclassified	probably benign
IGL02183:Csn1s1	APN	5	87,825,477 (GRCm39)	missense	possibly damaging	0.52
IGL02335:Csn1s1	APN	5	87,828,704 (GRCm39)	missense	probably benign	0.09
IGL02496:Csn1s1	APN	5	87,825,453 (GRCm39)	unclassified	probably benign
IGL02502:Csn1s1	APN	5	87,828,784 (GRCm39)	missense	probably benign	0.06
IGL02622:Csn1s1	APN	5	87,825,501 (GRCm39)	critical splice donor site	probably null
IGL03403:Csn1s1	APN	5	87,815,152 (GRCm39)	missense	probably benign	0.19
R0004:Csn1s1	UTSW	5	87,819,390 (GRCm39)	missense	probably benign	0.01
R0472:Csn1s1	UTSW	5	87,825,486 (GRCm39)	missense	possibly damaging	0.71
R1076:Csn1s1	UTSW	5	87,824,242 (GRCm39)	splice site	probably null
R1364:Csn1s1	UTSW	5	87,825,443 (GRCm39)	unclassified	probably benign
R1761:Csn1s1	UTSW	5	87,826,894 (GRCm39)	missense	probably benign	0.32
R2056:Csn1s1	UTSW	5	87,819,387 (GRCm39)	missense	possibly damaging	0.66
R2937:Csn1s1	UTSW	5	87,824,995 (GRCm39)	missense	possibly damaging	0.52
R2938:Csn1s1	UTSW	5	87,824,995 (GRCm39)	missense	possibly damaging	0.52
R3793:Csn1s1	UTSW	5	87,828,702 (GRCm39)	nonsense	probably null
R4274:Csn1s1	UTSW	5	87,828,820 (GRCm39)	makesense	probably null
R4568:Csn1s1	UTSW	5	87,828,763 (GRCm39)	missense	possibly damaging	0.51
R4959:Csn1s1	UTSW	5	87,821,120 (GRCm39)	missense	probably benign	0.27
R4973:Csn1s1	UTSW	5	87,821,120 (GRCm39)	missense	probably benign	0.27
R5133:Csn1s1	UTSW	5	87,828,737 (GRCm39)	missense	possibly damaging	0.92
R6008:Csn1s1	UTSW	5	87,825,944 (GRCm39)	critical splice donor site	probably null
R6663:Csn1s1	UTSW	5	87,823,599 (GRCm39)	missense	probably benign	0.33
R6940:Csn1s1	UTSW	5	87,822,882 (GRCm39)	missense	possibly damaging	0.46
R7164:Csn1s1	UTSW	5	87,822,087 (GRCm39)	missense	possibly damaging	0.53
R7990:Csn1s1	UTSW	5	87,827,912 (GRCm39)	missense	possibly damaging	0.92
R7998:Csn1s1	UTSW	5	87,822,087 (GRCm39)	missense	possibly damaging	0.53
R8729:Csn1s1	UTSW	5	87,824,998 (GRCm39)	critical splice donor site	probably null
R8950:Csn1s1	UTSW	5	87,824,482 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATAGGGCTGTCATGCTATTTCACAG -3'
(R):5'- TACACAGTACTAATTCTATGCCCAG -3'

Sequencing Primer
(F):5'- TCTCTGGATAAAACCAAATGCATAG -3'
(R):5'- CAGTACTAATTCTATGCCCAGATTAC -3'

Posted On

2016-10-26