Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Csn1s1'

296086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

87814067-87830437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87828784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 283 (I283V)

Ref Sequence

ENSEMBL: ENSMUSP00000142794 (fasta)

Gene Model

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

AlphaFold

P19228

Predicted Effect

probably benign
Transcript: ENSMUST00000094641
AA Change: I302V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: I302V

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 benign
Transcript: ENSMUST00000197631
AA Change: I283V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: I283V

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

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Ap1s3	A	G	1: 79,601,439 (GRCm39)	V84A	possibly damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ikbkg	T	A	X: 73,487,433 (GRCm39)	V334E	probably benign	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Lrrc47	A	G	4: 154,100,471 (GRCm39)	E349G	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Notch3	A	T	17: 32,377,252 (GRCm39)	C246*	probably null	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Trmt5	A	G	12: 73,328,001 (GRCm39)	C401R	probably benign	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vcl	A	T	14: 21,069,453 (GRCm39)	T710S	probably damaging	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		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
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
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

Posted On

2015-04-16