Mutagenetix > Incidental Mutation

Incidental Mutation 'R7685:Sqle'

593036

Institutional Source

Beutler Lab

Gene Symbol

Sqle

Ensembl Gene

ENSMUSG00000022351

Gene Name

squalene epoxidase

Synonyms

MMRRC Submission

045750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59186941-59203042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59187890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 66 (S66L)

Ref Sequence

ENSEMBL: ENSMUSP00000022977 (fasta)

Gene Model

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

AlphaFold

P52019

Predicted Effect

probably benign
Transcript: ENSMUST00000022977
AA Change: S66L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: S66L

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
AA Change: S66L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351
AA Change: S66L

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

99% (79/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,116,081 (GRCm39)	L251S	probably damaging	Het
Acsbg1	C	T	9: 54,535,843 (GRCm39)	S53N	unknown	Het
Adamts18	A	G	8: 114,439,855 (GRCm39)	C913R	probably damaging	Het
Adck5	C	A	15: 76,479,588 (GRCm39)	Y524*	probably null	Het
Adgrv1	G	T	13: 81,251,443 (GRCm39)	Q6225K	possibly damaging	Het
Ahr	T	C	12: 35,554,016 (GRCm39)	N701S	probably damaging	Het
Apc	T	C	18: 34,447,261 (GRCm39)	C1386R	probably damaging	Het
Bbs1	A	G	19: 4,956,182 (GRCm39)	S38P	probably benign	Het
Celsr1	G	T	15: 85,862,933 (GRCm39)	C1366*	probably null	Het
Cep290	A	C	10: 100,375,919 (GRCm39)	H1424P	probably benign	Het
Clcn3	C	T	8: 61,386,119 (GRCm39)	R311K	possibly damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Dhx9	A	G	1: 153,334,152 (GRCm39)	Y1002H	probably damaging	Het
Dnah8	C	T	17: 30,876,947 (GRCm39)	T533I	probably damaging	Het
Ermard	T	C	17: 15,279,724 (GRCm39)	S505P	probably benign	Het
Fbxw17	G	A	13: 50,579,680 (GRCm39)	D166N	probably damaging	Het
Fmo3	T	C	1: 162,785,901 (GRCm39)	K363R	possibly damaging	Het
Frey1	C	A	2: 92,213,817 (GRCm39)	P68Q	probably damaging	Het
Gadd45gip1	A	T	8: 85,558,980 (GRCm39)	R21W	probably damaging	Het
Galnt4	A	G	10: 98,945,826 (GRCm39)	N517S	probably benign	Het
Ganc	T	A	2: 120,264,273 (GRCm39)	W409R	probably damaging	Het
Glrx3	T	C	7: 137,060,920 (GRCm39)	S185P	probably damaging	Het
Gm49368	T	C	7: 127,712,414 (GRCm39)	S853P	probably damaging	Het
Gtf3c2	A	C	5: 31,325,611 (GRCm39)	L443V	probably damaging	Het
Gxylt2	A	T	6: 100,781,489 (GRCm39)	Q388L	probably benign	Het
Hcar2	C	T	5: 124,003,396 (GRCm39)	V36M	possibly damaging	Het
Ifit3b	A	T	19: 34,589,955 (GRCm39)	D377V	possibly damaging	Het
Ints5	A	G	19: 8,874,168 (GRCm39)	D709G	probably benign	Het
Lyst	A	G	13: 13,844,450 (GRCm39)	E1880G	probably benign	Het
Mep1a	C	T	17: 43,790,065 (GRCm39)	S428N	probably benign	Het
Mllt6	T	C	11: 97,567,790 (GRCm39)	L739P	probably damaging	Het
Mlst8	T	C	17: 24,695,031 (GRCm39)	Y284C	probably damaging	Het
Mmel1	T	C	4: 154,956,111 (GRCm39)	M1T	probably null	Het
Muc5ac	C	T	7: 141,363,120 (GRCm39)	P2144S	unknown	Het
Myh4	T	C	11: 67,131,756 (GRCm39)	V72A	probably benign	Het
Naa15	T	A	3: 51,377,395 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,248,028 (GRCm39)		probably null	Het
Nme8	T	A	13: 19,835,145 (GRCm39)	M514L	probably benign	Het
Nudt9	C	A	5: 104,194,946 (GRCm39)	S14*	probably null	Het
Optn	G	A	2: 5,059,461 (GRCm39)	T19I	probably benign	Het
Or11h23	A	T	14: 50,948,215 (GRCm39)	I143F	possibly damaging	Het
Or13a24	T	C	7: 140,154,159 (GRCm39)	F31S	probably damaging	Het
Osbpl8	T	A	10: 111,112,370 (GRCm39)	L495*	probably null	Het
Panx2	T	C	15: 88,951,973 (GRCm39)	S147P	possibly damaging	Het
Pclo	T	A	5: 14,730,630 (GRCm39)	V3044D	unknown	Het
Pcnt	T	C	10: 76,258,642 (GRCm39)	K608E	probably benign	Het
Pde7a	T	A	3: 19,281,909 (GRCm39)	N447I	probably damaging	Het
Peli2	G	T	14: 48,517,491 (GRCm39)	C186F	not run	Het
Pgm5	A	G	19: 24,705,215 (GRCm39)	F433L	probably benign	Het
Plce1	G	A	19: 38,736,877 (GRCm39)	V1588I	probably benign	Het
Plin4	T	A	17: 56,409,413 (GRCm39)	H1295L	probably benign	Het
Poli	T	C	18: 70,658,590 (GRCm39)	E134G	probably benign	Het
Pramel11	T	A	4: 143,624,371 (GRCm39)	D42V	probably benign	Het
Ptprq	T	A	10: 107,479,839 (GRCm39)	I1144F	probably damaging	Het
Ptprz1	A	T	6: 23,024,977 (GRCm39)	T1738S	probably damaging	Het
Pxdc1	A	G	13: 34,836,267 (GRCm39)	L51P	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rhd	T	A	4: 134,611,820 (GRCm39)		probably null	Het
Rpp14	T	C	14: 8,090,453 (GRCm38)	S126P	probably damaging	Het
Scn7a	C	T	2: 66,506,536 (GRCm39)	C1451Y	probably damaging	Het
Sdr39u1	G	A	14: 56,135,191 (GRCm39)	R251*	probably null	Het
Sephs2	G	T	7: 126,872,506 (GRCm39)	P196T	possibly damaging	Het
Slc22a16	T	C	10: 40,450,085 (GRCm39)	Y195H	possibly damaging	Het
Spg11	C	A	2: 121,899,361 (GRCm39)	V1575F	probably damaging	Het
Tas2r124	T	G	6: 132,732,056 (GRCm39)	W122G	probably damaging	Het
Tex52	A	T	6: 128,361,921 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,993,454 (GRCm39)	C604*	probably null	Het
Tmc3	T	C	7: 83,246,666 (GRCm39)	S136P	probably damaging	Het
Tmem212	T	A	3: 27,950,462 (GRCm39)	T11S	probably benign	Het
Ubn2	A	G	6: 38,468,727 (GRCm39)	N1147S	probably benign	Het
Uggt2	A	G	14: 119,312,759 (GRCm39)	I350T	probably damaging	Het
Ust	A	T	10: 8,083,339 (GRCm39)	Y346N	probably damaging	Het
Vwa8	A	G	14: 79,335,740 (GRCm39)	T1399A	probably benign	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp800	C	A	6: 28,244,193 (GRCm39)	K257N	probably damaging	Het
Zfp985	T	A	4: 147,667,331 (GRCm39)	D66E	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
R7731:Sqle	UTSW	15	59,187,821 (GRCm39)	missense	probably benign	0.20
R7938:Sqle	UTSW	15	59,196,315 (GRCm39)	missense	probably damaging	0.99
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'- AGCCTTTTGAGCCATGTGG -3'
(R):5'- AAGCCACCACTTTCGTGAC -3'

Sequencing Primer
(F):5'- AGCCATGTGGACTTTTCTTGGC -3'
(R):5'- AGCCACCACTTTCGTGACTTTTAAAG -3'

Posted On

2019-11-12