Mutagenetix > Incidental Mutation

Incidental Mutation 'R6940:Csn1s1'

540494

Institutional Source

Beutler Lab

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

MMRRC Submission

045054-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87814067-87830437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87822882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 69 (Q69L)

Ref Sequence

ENSEMBL: ENSMUSP00000142839 (fasta)

Gene Model

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

AlphaFold

P19228

Predicted Effect

probably benign
Transcript: ENSMUST00000094641
AA Change: Q127L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: Q127L

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

possibly damaging
Transcript: ENSMUST00000197157
AA Change: Q69L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142839
Gene: ENSMUSG00000070702
AA Change: Q69L

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

Predicted Effect

unknown
Transcript: ENSMUST00000197631
AA Change: Q127L

SMART Domains

Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: Q127L

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

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	A	9: 54,516,381 (GRCm39)	A667S	probably benign	Het
Ank2	G	A	3: 126,735,621 (GRCm39)		probably benign	Het
Arhgef28	A	G	13: 98,102,038 (GRCm39)	L812P	possibly damaging	Het
Armc5	C	T	7: 127,839,470 (GRCm39)	R263*	probably null	Het
Cadps2	A	T	6: 23,302,491 (GRCm39)	V740E	probably damaging	Het
Cckbr	T	C	7: 105,084,103 (GRCm39)	V279A	probably benign	Het
Cd101	T	C	3: 100,911,018 (GRCm39)	D880G	probably damaging	Het
Cep350	A	T	1: 155,804,297 (GRCm39)	S929T	probably benign	Het
Chaf1b	G	A	16: 93,702,853 (GRCm39)	R556H	probably benign	Het
Dennd1b	T	C	1: 138,981,155 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,162,503 (GRCm39)	D22G	probably benign	Het
Dnah7a	T	C	1: 53,670,836 (GRCm39)	H472R	probably benign	Het
Dnah7b	G	A	1: 46,158,428 (GRCm39)	R337H	probably benign	Het
Eif2ak3	T	C	6: 70,869,386 (GRCm39)	V691A	possibly damaging	Het
Ern2	T	C	7: 121,785,369 (GRCm39)	R3G	probably benign	Het
Fat3	T	C	9: 15,828,096 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,575,858 (GRCm39)	F20L	unknown	Het
Gtf2b	C	A	3: 142,484,016 (GRCm39)	D63E	probably damaging	Het
Hydin	A	G	8: 111,217,243 (GRCm39)	Y1377C	probably damaging	Het
Klf1	A	G	8: 85,628,724 (GRCm39)	T41A	possibly damaging	Het
Lce3d	G	A	3: 92,865,541 (GRCm39)	S52N	unknown	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrfip1	T	A	1: 91,050,135 (GRCm39)		probably null	Het
Ltbp4	A	C	7: 27,008,369 (GRCm39)	V1313G	probably damaging	Het
Morc1	C	A	16: 48,300,208 (GRCm39)	S235*	probably null	Het
Mr1	T	G	1: 155,005,014 (GRCm39)	*342S	probably null	Het
Muc21	C	A	17: 35,934,118 (GRCm39)		probably benign	Het
Nol4l	T	A	2: 153,253,684 (GRCm39)	S630C	probably benign	Het
Nr4a3	C	T	4: 48,051,486 (GRCm39)	P80L	probably benign	Het
Or51a43	A	G	7: 103,717,620 (GRCm39)	I206T	possibly damaging	Het
Otof	A	G	5: 30,528,987 (GRCm39)	V1807A	probably damaging	Het
Pde5a	T	A	3: 122,572,681 (GRCm39)	V354E	possibly damaging	Het
Pmfbp1	A	T	8: 110,251,823 (GRCm39)	E355D	probably damaging	Het
Ppp2r2c	A	G	5: 37,084,875 (GRCm39)	D112G	probably damaging	Het
Prkacb	A	T	3: 146,457,254 (GRCm39)	I37N	probably damaging	Het
Prox2	T	C	12: 85,141,348 (GRCm39)	D285G	probably benign	Het
Ranbp3l	A	G	15: 9,041,792 (GRCm39)	S61G	probably benign	Het
Rnf214	T	A	9: 45,802,196 (GRCm39)	T289S	probably damaging	Het
Rnf217	G	T	10: 31,381,973 (GRCm39)		probably null	Het
Sc5d	A	T	9: 42,166,723 (GRCm39)	M272K	probably benign	Het
Slco6c1	T	C	1: 97,000,626 (GRCm39)	T542A	possibly damaging	Het
Sord	T	A	2: 122,094,536 (GRCm39)	I308N	probably damaging	Het
Syvn1	A	T	19: 6,101,214 (GRCm39)		probably benign	Het
Tas2r134	A	G	2: 51,518,148 (GRCm39)	H209R	probably benign	Het
Trak1	T	C	9: 121,272,784 (GRCm39)	V214A	possibly damaging	Het
Trpm5	C	A	7: 142,638,547 (GRCm39)	E322*	probably null	Het
Ttf2	T	C	3: 100,876,831 (GRCm39)	T17A	probably damaging	Het
Vmn2r53	T	C	7: 12,316,343 (GRCm39)	E492G	probably benign	Het
Xndc1	T	C	7: 101,727,094 (GRCm39)	V161A	probably benign	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
R5611:Csn1s1	UTSW	5	87,825,503 (GRCm39)	splice site	probably null
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
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'- TCCAACCTGAGAAATATCGCAAATG -3'
(R):5'- CTTGAAAAGCCCACATTCACTTTAG -3'

Sequencing Primer
(F):5'- CCTGAGAAATATCGCAAATGTAACTG -3'
(R):5'- ACTCTGCCTCAAAAATAGTAGAAAAG -3'

Posted On

2018-11-06