Mutagenetix > Incidental Mutation

Incidental Mutation 'R6008:Csn1s1'

479591

Institutional Source

Beutler Lab

Gene Symbol

Csn1s1

Ensembl Gene

ENSMUSG00000070702

Gene Name

casein alpha s1

Synonyms

Csna

MMRRC Submission

044185-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87814067-87830437 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 87825944 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

Meta Mutation Damage Score

0.9456

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

98% (55/56)

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
Abcc4	A	G	14: 118,727,978 (GRCm39)	L1268P	possibly damaging	Het
Acot3	T	A	12: 84,103,860 (GRCm39)	V223E	probably damaging	Het
Afap1	T	G	5: 36,154,895 (GRCm39)	S680A	probably damaging	Het
Aox1	C	T	1: 58,116,672 (GRCm39)	A801V	probably damaging	Het
Atp8b1	G	T	18: 64,710,687 (GRCm39)	T155K	probably damaging	Het
Bard1	C	A	1: 71,069,909 (GRCm39)	V690F	possibly damaging	Het
Btnl9	C	A	11: 49,073,792 (GRCm39)		probably null	Het
C1rl	A	G	6: 124,470,147 (GRCm39)	N13S	probably benign	Het
Cad	C	A	5: 31,226,456 (GRCm39)	T1166K	probably damaging	Het
Ckap5	T	A	2: 91,393,334 (GRCm39)	M405K	probably damaging	Het
Ctnna2	A	G	6: 76,892,811 (GRCm39)	L792P	probably damaging	Het
Dennd3	T	A	15: 73,438,929 (GRCm39)	V1099D	possibly damaging	Het
Dnai2	A	G	11: 114,643,816 (GRCm39)	N482S	probably benign	Het
Dock10	T	C	1: 80,583,890 (GRCm39)	T184A	probably damaging	Het
Ear2	T	A	14: 44,340,546 (GRCm39)	L68H	probably damaging	Het
Edn3	A	G	2: 174,621,525 (GRCm39)	T149A	probably benign	Het
Erf	C	T	7: 24,945,041 (GRCm39)	V131M	probably benign	Het
Esp34	A	G	17: 38,865,118 (GRCm39)		probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga1	A	G	2: 38,937,099 (GRCm39)	V161A	probably benign	Het
Gpr17	T	A	18: 32,080,530 (GRCm39)	T178S	probably benign	Het
Gsg1l2	T	A	11: 67,665,537 (GRCm39)	I35N	possibly damaging	Het
Hmgn3	T	A	9: 82,994,284 (GRCm39)	T46S	probably damaging	Het
Hydin	A	C	8: 111,325,717 (GRCm39)	I4709L	probably benign	Het
Ifna9	A	T	4: 88,510,600 (GRCm39)	L8Q	probably null	Het
Iftap	A	T	2: 101,413,898 (GRCm39)	M133K	possibly damaging	Het
Kpna4	T	C	3: 69,034,066 (GRCm39)	E125G	probably null	Het
Lrriq1	A	G	10: 103,006,325 (GRCm39)	S1267P	probably damaging	Het
Mab21l1	G	T	3: 55,690,518 (GRCm39)	C35F	possibly damaging	Het
Map3k2	A	G	18: 32,336,104 (GRCm39)	D97G	probably damaging	Het
Matcap2	G	A	9: 22,335,422 (GRCm39)	W13*	probably null	Het
Mdn1	T	A	4: 32,741,073 (GRCm39)	I3799N	probably damaging	Het
Mki67	G	A	7: 135,299,158 (GRCm39)	R1959C	probably damaging	Het
Mroh1	A	T	15: 76,335,557 (GRCm39)	H1400L	possibly damaging	Het
Mroh4	T	A	15: 74,497,321 (GRCm39)	K167*	probably null	Het
Mroh8	A	G	2: 157,094,984 (GRCm39)	I334T	probably benign	Het
Or51a25	T	A	7: 102,373,574 (GRCm39)	Y41F	probably damaging	Het
Phf11d	T	A	14: 59,602,898 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,182,097 (GRCm39)	T342I	possibly damaging	Het
Pira12	G	T	7: 3,897,599 (GRCm39)	H499N	probably damaging	Het
Plekhh3	T	C	11: 101,055,591 (GRCm39)	E483G	possibly damaging	Het
Ppp1r3b	G	A	8: 35,851,355 (GRCm39)	A65T	probably damaging	Het
Pramel30	C	T	4: 144,057,777 (GRCm39)	T128I	probably benign	Het
Prkcq	A	G	2: 11,261,097 (GRCm39)	H383R	probably damaging	Het
Pum1	T	C	4: 130,496,158 (GRCm39)	V961A	probably damaging	Het
Scgb2b27	T	C	7: 33,711,561 (GRCm39)	E96G	probably benign	Het
Sel1l2	T	A	2: 140,086,025 (GRCm39)	E522V	probably damaging	Het
Socs4	T	G	14: 47,527,618 (GRCm39)	C184W	probably damaging	Het
Spdye4c	A	T	2: 128,438,553 (GRCm39)	I304F	probably benign	Het
Sptbn2	A	G	19: 4,789,306 (GRCm39)	I1249V	possibly damaging	Het
Sys1	T	C	2: 164,306,507 (GRCm39)	S154P	probably benign	Het
Taf6l	T	C	19: 8,755,530 (GRCm39)	Q275R	possibly damaging	Het
Tas2r107	A	G	6: 131,636,875 (GRCm39)	V58A	possibly damaging	Het
Thada	T	A	17: 84,744,062 (GRCm39)	I749F	probably damaging	Het
Tubb1	T	A	2: 174,299,567 (GRCm39)	H416Q	probably benign	Het
Vmn2r109	G	A	17: 20,760,981 (GRCm39)	T792I	probably damaging	Het
Zfp988	A	G	4: 147,416,259 (GRCm39)	Q231R	probably benign	Het
Zmynd8	T	C	2: 165,684,707 (GRCm39)	I182V	possibly damaging	Het
Zzz3	T	C	3: 152,133,788 (GRCm39)	V282A	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
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'- TCTGGGCATAGAATTAGTACTGTG -3'
(R):5'- AGCCATTCTTGTGCTCAAAGTTATG -3'

Sequencing Primer
(F):5'- GCACAGTAGTACAGTGTCAG -3'
(R):5'- CTTGTGCTCAAAGTTATGAGTGAGAG -3'

Posted On

2017-06-26