Mutagenetix > Incidental Mutation

Incidental Mutation 'R7938:Sqle'

648897

Institutional Source

Beutler Lab

Gene Symbol

Sqle

Ensembl Gene

ENSMUSG00000022351

Gene Name

squalene epoxidase

Synonyms

MMRRC Submission

045984-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7938 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59186941-59203042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59196315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 369 (H369Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022977] [ENSMUST00000100640]

AlphaFold

P52019

Predicted Effect

probably damaging
Transcript: ENSMUST00000022977
AA Change: H369Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: H369Q

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	81	95	N/A	INTRINSIC
Pfam:FAD_binding_3	121	434	1.4e-22	PFAM
Pfam:SE	275	546	1.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100640

SMART Domains

Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	81	95	N/A	INTRINSIC
Pfam:FAD_binding_3	121	344	3.4e-18	PFAM
Pfam:SE	275	370	3.5e-34	PFAM
Pfam:SE	365	514	5.7e-64	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die before E8.5 with a phenotype consistent with that found in mice with mutations affecting cholesterol synthesis. Mice heterozygous the allele exhibit improved Rett syndrome phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Bcam	T	G	7: 19,490,738 (GRCm39)	E586D	probably benign	Het
Bmp7	A	C	2: 172,721,283 (GRCm39)	I264S	probably benign	Het
Casz1	G	A	4: 149,028,943 (GRCm39)	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,677,455 (GRCm39)	N31K	probably benign	Het
Cfap61	A	G	2: 145,887,376 (GRCm39)	Y607C	probably benign	Het
Cnga1	T	C	5: 72,761,597 (GRCm39)	E639G	probably benign	Het
Coch	T	A	12: 51,643,366 (GRCm39)		probably null	Het
Col6a6	A	C	9: 105,657,883 (GRCm39)	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,609,073 (GRCm39)	L318R	probably damaging	Het
Cyp3a16	T	A	5: 145,389,666 (GRCm39)	Y233F	probably benign	Het
Dgkz	G	T	2: 91,795,817 (GRCm39)	R42S	probably damaging	Het
Dner	A	G	1: 84,673,218 (GRCm39)	Y78H	possibly damaging	Het
Fat2	T	C	11: 55,163,922 (GRCm39)	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,260,246 (GRCm39)	S768P	probably benign	Het
Gm45861	T	A	8: 28,071,990 (GRCm39)	N1269K	unknown	Het
Gpr12	T	A	5: 146,520,094 (GRCm39)	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,562,792 (GRCm39)	P769L	probably benign	Het
Hapln1	G	A	13: 89,753,347 (GRCm39)	R171H	probably damaging	Het
Hlx	T	G	1: 184,464,125 (GRCm39)	T72P	probably benign	Het
Iqcm	G	T	8: 76,304,596 (GRCm39)	C119F	probably benign	Het
Katna1	G	T	10: 7,637,075 (GRCm39)	A409S	probably benign	Het
Kcnip2	A	T	19: 45,782,729 (GRCm39)	I204N	probably damaging	Het
Kel	G	T	6: 41,675,310 (GRCm39)	Q314K	probably benign	Het
Klf5	T	C	14: 99,536,444 (GRCm39)	V5A	probably damaging	Het
Lax1	A	T	1: 133,607,896 (GRCm39)	C282S	probably benign	Het
Lyar	A	G	5: 38,388,295 (GRCm39)	T274A	probably benign	Het
Mboat1	A	G	13: 30,415,959 (GRCm39)	H306R	possibly damaging	Het
Morn5	A	T	2: 35,947,082 (GRCm39)	Y120F	probably benign	Het
Mrgprx2	T	C	7: 48,132,240 (GRCm39)	T193A	probably benign	Het
Myh10	T	A	11: 68,583,327 (GRCm39)	W8R	unknown	Het
Nfasc	A	G	1: 132,533,269 (GRCm39)	V644A	probably damaging	Het
Nup153	G	T	13: 46,842,855 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,141,866 (GRCm39)	K393E	possibly damaging	Het
Or1o4	T	A	17: 37,590,991 (GRCm39)	M107L	probably benign	Het
Or4x6	A	T	2: 89,949,173 (GRCm39)	Y256*	probably null	Het
Or5h19	A	T	16: 58,856,325 (GRCm39)	Y258*	probably null	Het
Orc4	A	T	2: 48,800,203 (GRCm39)	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,443,549 (GRCm39)		probably null	Het
Pif1	A	G	9: 65,502,073 (GRCm39)	D635G	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppfia2	A	G	10: 106,310,648 (GRCm39)	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,485,180 (GRCm39)	D301V	probably damaging	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Qser1	A	C	2: 104,619,312 (GRCm39)	V410G	probably damaging	Het
Reln	A	C	5: 22,155,870 (GRCm39)	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,327,810 (GRCm39)	V180A	probably benign	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rsph3a	G	T	17: 8,165,050 (GRCm39)	E137*	probably null	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Srebf2	T	A	15: 82,057,016 (GRCm39)	D250E	probably damaging	Het
Svs3b	A	T	2: 164,097,567 (GRCm39)	C251*	probably null	Het
Tdrd9	A	T	12: 111,997,649 (GRCm39)	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,738,717 (GRCm39)	S202P	possibly damaging	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trav8-1	T	G	14: 53,707,688 (GRCm39)	D109E	possibly damaging	Het
Trem2	T	A	17: 48,658,777 (GRCm39)	S181T	probably benign	Het
Trim37	A	G	11: 87,037,863 (GRCm39)	N199S	probably benign	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ubxn8	A	G	8: 34,111,712 (GRCm39)	M227T	probably damaging	Het
Uggt2	T	A	14: 119,296,519 (GRCm39)	I448F	possibly damaging	Het
Usp47	T	A	7: 111,687,132 (GRCm39)	L697M	probably damaging	Het
Vmn2r52	T	C	7: 9,893,300 (GRCm39)	D613G	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Zfp423	T	C	8: 88,622,304 (GRCm39)	Y11C	unknown	Het
Zw10	T	A	9: 48,982,933 (GRCm39)	D521E	probably benign	Het

Other mutations in Sqle

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Sqle	APN	15	59,198,468 (GRCm39)	missense	probably damaging	1.00
IGL01396:Sqle	APN	15	59,195,723 (GRCm39)	missense	probably damaging	1.00
IGL02852:Sqle	APN	15	59,197,920 (GRCm39)	missense	probably damaging	1.00
IGL03037:Sqle	APN	15	59,193,246 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Sqle	UTSW	15	59,195,509 (GRCm39)	missense	probably benign	0.03
R1678:Sqle	UTSW	15	59,196,358 (GRCm39)	missense	probably damaging	1.00
R2047:Sqle	UTSW	15	59,197,907 (GRCm39)	missense	probably benign	0.08
R2075:Sqle	UTSW	15	59,195,750 (GRCm39)	missense	probably damaging	0.99
R2156:Sqle	UTSW	15	59,195,578 (GRCm39)	critical splice donor site	probably null
R4773:Sqle	UTSW	15	59,189,688 (GRCm39)	missense	possibly damaging	0.54
R4878:Sqle	UTSW	15	59,187,934 (GRCm39)	missense	probably benign	0.08
R4915:Sqle	UTSW	15	59,193,218 (GRCm39)	nonsense	probably null
R5439:Sqle	UTSW	15	59,202,753 (GRCm39)	missense	probably benign	0.02
R5936:Sqle	UTSW	15	59,202,678 (GRCm39)	missense	probably damaging	1.00
R6374:Sqle	UTSW	15	59,187,959 (GRCm39)	missense	possibly damaging	0.75
R7286:Sqle	UTSW	15	59,187,901 (GRCm39)	missense	probably benign	0.00
R7373:Sqle	UTSW	15	59,189,658 (GRCm39)	missense	probably benign
R7386:Sqle	UTSW	15	59,202,603 (GRCm39)	missense	probably benign	0.30
R7387:Sqle	UTSW	15	59,202,603 (GRCm39)	missense	probably benign	0.30
R7624:Sqle	UTSW	15	59,202,603 (GRCm39)	missense	probably benign	0.30
R7685:Sqle	UTSW	15	59,187,890 (GRCm39)	missense	probably benign	0.00
R7731:Sqle	UTSW	15	59,187,821 (GRCm39)	missense	probably benign	0.20
R8095:Sqle	UTSW	15	59,193,276 (GRCm39)	missense	probably benign	0.00
R8213:Sqle	UTSW	15	59,193,151 (GRCm39)	splice site	probably null
R8353:Sqle	UTSW	15	59,196,314 (GRCm39)	missense	possibly damaging	0.94
R8961:Sqle	UTSW	15	59,187,695 (GRCm39)	start codon destroyed	probably null	1.00
R9049:Sqle	UTSW	15	59,189,711 (GRCm39)	missense	probably benign
R9214:Sqle	UTSW	15	59,194,765 (GRCm39)	missense	probably benign	0.00
R9706:Sqle	UTSW	15	59,201,625 (GRCm39)	missense	probably damaging	0.99
X0027:Sqle	UTSW	15	59,189,672 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTATAAGGAGGTGCTTAATGG -3'
(R):5'- CCACTCTTTCTGGCCAAGGTAG -3'

Sequencing Primer
(F):5'- CAGGGAACTATGGAATAGCT -3'
(R):5'- GCCAAGGTAGCCAACTCTCTG -3'

Posted On

2020-09-15