Mutagenetix > Incidental Mutation

Incidental Mutation 'R5642:Cyp2s1'

440746

Institutional Source

Beutler Lab

Gene Symbol

Cyp2s1

Ensembl Gene

ENSMUSG00000040703

Gene Name

cytochrome P450, family 2, subfamily s, polypeptide 1

Synonyms

1200011C15Rik

MMRRC Submission

043290-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5642 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

25802475-25816913 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 25816319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043314] [ENSMUST00000108395] [ENSMUST00000156714]

AlphaFold

Q9DBX6

Predicted Effect

probably null
Transcript: ENSMUST00000043314

SMART Domains

Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:p450	34	493	6.4e-122	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108395

SMART Domains

Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:p450	34	440	4e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152560

Predicted Effect

probably benign
Transcript: ENSMUST00000156714

SMART Domains

Protein: ENSMUSP00000122264
Gene: ENSMUSG00000040703

Domain	Start	End	E-Value	Type
Pfam:p450	1	91	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181552

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and appear normal in terms of body weight, growth rate, organ weight, and daily activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831 (GRCm38)	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485 (GRCm38)	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483 (GRCm38)	Q4231L	probably damaging	Het
Abcc1	A	G	16: 14,443,455 (GRCm38)	E699G	probably damaging	Het
Ap4e1	T	A	2: 127,064,979 (GRCm38)	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497 (GRCm38)	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742 (GRCm38)	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106 (GRCm38)	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078 (GRCm38)	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342 (GRCm38)	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923 (GRCm38)	I100F	possibly damaging	Het
Cdh16	A	G	8: 104,618,045 (GRCm38)	F485L	probably damaging	Het
Cdhr5	T	A	7: 141,269,197 (GRCm38)	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577 (GRCm38)	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408 (GRCm38)	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765 (GRCm38)	N51K	probably damaging	Het
Col3a1	T	A	1: 45,331,712 (GRCm38)		probably benign	Het
Cxcr1	G	A	1: 74,191,828 (GRCm38)	T345M	probably damaging	Het
Dalrd3	C	T	9: 108,572,290 (GRCm38)	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505 (GRCm38)	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895 (GRCm38)	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727 (GRCm38)	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015 (GRCm38)	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136 (GRCm38)	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882 (GRCm38)	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611 (GRCm38)	I125N	unknown	Het
Grm3	A	G	5: 9,570,536 (GRCm38)	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085 (GRCm38)	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217 (GRCm38)	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034 (GRCm38)	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436 (GRCm38)	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447 (GRCm38)	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882 (GRCm38)	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494 (GRCm38)	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232 (GRCm38)	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995 (GRCm38)	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221 (GRCm38)	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179 (GRCm38)	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043 (GRCm38)	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824 (GRCm38)	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544 (GRCm38)	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311 (GRCm38)	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919 (GRCm38)	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025 (GRCm38)	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687 (GRCm38)	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528 (GRCm38)	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932 (GRCm38)	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772 (GRCm38)	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006 (GRCm38)	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828 (GRCm38)	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399 (GRCm38)	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565 (GRCm38)	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552 (GRCm38)	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100 (GRCm38)	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804 (GRCm38)	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029 (GRCm38)	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,106,855 (GRCm38)	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,879,202 (GRCm38)	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362 (GRCm38)	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703 (GRCm38)	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850 (GRCm38)	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218 (GRCm38)	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521 (GRCm38)	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496 (GRCm38)		probably null	Het
Sema3e	A	G	5: 14,162,243 (GRCm38)	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,711,972 (GRCm38)	E60G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408 (GRCm38)	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179 (GRCm38)	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532 (GRCm38)	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791 (GRCm38)	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787 (GRCm38)	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877 (GRCm38)	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,511,300 (GRCm38)	A166E	probably damaging	Het
Tex14	A	G	11: 87,514,220 (GRCm38)	R653G	probably benign	Het
Them6	A	T	15: 74,721,805 (GRCm38)	R171W	probably null	Het
Tln2	T	C	9: 67,296,358 (GRCm38)	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946 (GRCm38)	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515 (GRCm38)	C469*	probably null	Het
Tpr	T	C	1: 150,423,818 (GRCm38)	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662 (GRCm38)	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207 (GRCm38)	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336 (GRCm38)	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068 (GRCm38)	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464 (GRCm38)	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036 (GRCm38)	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380 (GRCm38)	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302 (GRCm38)	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418 (GRCm38)	E543G		Het
Wdr92	A	G	11: 17,227,263 (GRCm38)	N207S	possibly damaging	Het
Zfat	A	T	15: 68,180,916 (GRCm38)	V343E	probably damaging	Het
Zfp316	T	C	5: 143,264,091 (GRCm38)	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832 (GRCm38)	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748 (GRCm38)	K677E	probably benign	Het

Other mutations in Cyp2s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Cyp2s1	APN	7	25,809,258 (GRCm38)	missense	probably damaging	1.00
IGL02415:Cyp2s1	APN	7	25,808,137 (GRCm38)	missense	probably damaging	1.00
IGL02530:Cyp2s1	APN	7	25,816,424 (GRCm38)	unclassified	probably benign
IGL02927:Cyp2s1	APN	7	25,808,152 (GRCm38)	missense	probably benign	0.17
IGL03358:Cyp2s1	APN	7	25,808,148 (GRCm38)	missense	probably damaging	1.00
R0139:Cyp2s1	UTSW	7	25,811,689 (GRCm38)	splice site	probably null
R0523:Cyp2s1	UTSW	7	25,806,050 (GRCm38)	missense	probably damaging	1.00
R0650:Cyp2s1	UTSW	7	25,809,258 (GRCm38)	missense	probably damaging	1.00
R0652:Cyp2s1	UTSW	7	25,809,258 (GRCm38)	missense	probably damaging	1.00
R0723:Cyp2s1	UTSW	7	25,809,548 (GRCm38)	missense	probably benign	0.01
R1086:Cyp2s1	UTSW	7	25,805,997 (GRCm38)	missense	probably damaging	1.00
R3732:Cyp2s1	UTSW	7	25,803,954 (GRCm38)	missense	probably null	0.08
R3732:Cyp2s1	UTSW	7	25,803,954 (GRCm38)	missense	probably null	0.08
R3733:Cyp2s1	UTSW	7	25,803,954 (GRCm38)	missense	probably null	0.08
R3813:Cyp2s1	UTSW	7	25,805,866 (GRCm38)	splice site	probably null
R3958:Cyp2s1	UTSW	7	25,803,954 (GRCm38)	missense	probably null	0.08
R4593:Cyp2s1	UTSW	7	25,816,442 (GRCm38)	unclassified	probably benign
R4965:Cyp2s1	UTSW	7	25,809,285 (GRCm38)	missense	possibly damaging	0.85
R5278:Cyp2s1	UTSW	7	25,805,884 (GRCm38)	missense	possibly damaging	0.95
R6258:Cyp2s1	UTSW	7	25,816,442 (GRCm38)	unclassified	probably benign
R6628:Cyp2s1	UTSW	7	25,815,041 (GRCm38)	missense	probably benign	0.02
R6762:Cyp2s1	UTSW	7	25,808,070 (GRCm38)	missense	probably damaging	1.00
R7367:Cyp2s1	UTSW	7	25,805,973 (GRCm38)	missense	possibly damaging	0.90
R8145:Cyp2s1	UTSW	7	25,808,042 (GRCm38)	critical splice donor site	probably null
R8275:Cyp2s1	UTSW	7	25,809,310 (GRCm38)	missense	probably benign	0.10
R9733:Cyp2s1	UTSW	7	25,808,104 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACCTGGATACCCTTGCTCAG -3'
(R):5'- GCAAGGAGCTTCTAGGAGGTAC -3'

Sequencing Primer
(F):5'- AGCCCAGGTCAACTTGTTCG -3'
(R):5'- AGCCGACCTGCAGAGATG -3'

Posted On

2016-11-08