Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Csn1s1'

256100

Institutional Source

Beutler Lab

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87814067-87830437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87824995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 221 (Q221L)

Ref Sequence

ENSEMBL: ENSMUSP00000092225 (fasta)

Gene Model

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

AlphaFold

P19228

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094641
AA Change: Q221L

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: Q221L

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

unknown
Transcript: ENSMUST00000197631
AA Change: Q221L

SMART Domains

Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: Q221L

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

noncoding transcript
Transcript: ENSMUST00000199533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200344

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

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	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
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
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'- GCTATGCTAGTAGAGAGTCTATGCC -3'
(R):5'- CTGTCATGCATAGTTAAGACACC -3'

Sequencing Primer
(F):5'- CACTATGCCAATACATACTCTATGTC -3'
(R):5'- GTTAAGACACCAAGATACTGTTACC -3'

Posted On

2014-12-29