Mutagenetix > Incidental Mutation

Incidental Mutation 'R9049:Sqle'

688263

Institutional Source

Beutler Lab

Gene Symbol

Sqle

Ensembl Gene

ENSMUSG00000022351

Gene Name

squalene epoxidase

Synonyms

MMRRC Submission

068875-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59186941-59203042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59189711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 118 (F118L)

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: F118L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: F118L

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: F118L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351
AA Change: F118L

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,115,900 (GRCm39)	I118V	probably null	Het
Abcc9	A	G	6: 142,628,658 (GRCm39)	L362P	probably damaging	Het
Adam7	C	A	14: 68,762,674 (GRCm39)	V184F	probably benign	Het
Adgre4	T	C	17: 56,092,094 (GRCm39)	I118T	probably benign	Het
Akap9	T	C	5: 4,114,597 (GRCm39)	L3292P		Het
Akr1b10	A	G	6: 34,373,561 (GRCm39)	E308G	possibly damaging	Het
Aopep	A	G	13: 63,208,852 (GRCm39)	Y323C	probably benign	Het
Ash1l	T	C	3: 88,914,671 (GRCm39)	V1767A	probably benign	Het
Bpifb3	C	A	2: 153,767,810 (GRCm39)	N294K	probably benign	Het
Bpifb5	A	G	2: 154,070,096 (GRCm39)	N182S	probably benign	Het
C9orf72	A	G	4: 35,192,964 (GRCm39)	I455T	unknown	Het
Camkmt	A	G	17: 85,709,912 (GRCm39)	I205M	possibly damaging	Het
Ccdc88b	C	T	19: 6,826,442 (GRCm39)	R1091Q	probably benign	Het
Cfap58	A	T	19: 48,015,157 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,733,143 (GRCm39)	I122L	probably benign	Het
Col6a3	T	A	1: 90,707,066 (GRCm39)	S2623C	unknown	Het
Cpne5	A	G	17: 29,379,332 (GRCm39)	S484P	probably damaging	Het
Cyp4f39	T	A	17: 32,705,965 (GRCm39)	L352Q	probably damaging	Het
Dcun1d1	T	C	3: 35,951,998 (GRCm39)	N183D	probably benign	Het
Dgkg	A	G	16: 22,419,338 (GRCm39)	V54A	probably benign	Het
Dnah12	T	A	14: 26,443,275 (GRCm39)	D561E	probably benign	Het
Dnah6	A	C	6: 73,119,275 (GRCm39)	L1536R	probably damaging	Het
Gm21834	G	A	17: 58,048,826 (GRCm39)	T130I	possibly damaging	Het
Hectd4	T	A	5: 121,451,955 (GRCm39)	V434E	possibly damaging	Het
Htr3a	C	A	9: 48,811,087 (GRCm39)	V459L	probably damaging	Het
Lonp2	T	C	8: 87,435,735 (GRCm39)	V657A	probably benign	Het
Mdfi	C	A	17: 48,135,479 (GRCm39)	V84L	probably damaging	Het
Mdm1	C	T	10: 117,982,605 (GRCm39)	T80M	probably benign	Het
Muc5ac	A	C	7: 141,362,712 (GRCm39)	I2008L	unknown	Het
Nomo1	A	G	7: 45,715,597 (GRCm39)	D681G	probably benign	Het
Or10g9	G	T	9: 39,911,919 (GRCm39)	N201K	possibly damaging	Het
Or14j6	G	A	17: 38,214,764 (GRCm39)	W109*	probably null	Het
Or1af1	C	G	2: 37,109,959 (GRCm39)	H153D	probably damaging	Het
Or1p1c	A	G	11: 74,161,115 (GRCm39)	K300R	possibly damaging	Het
Or5h25	T	G	16: 58,930,763 (GRCm39)	D70A	probably damaging	Het
Or5m5	A	G	2: 85,814,235 (GRCm39)	E17G	possibly damaging	Het
Or7e169	T	C	9: 19,757,045 (GRCm39)	Y290C	probably damaging	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pira13	T	A	7: 3,819,890 (GRCm39)	T676S	unknown	Het
Pld3	C	T	7: 27,235,293 (GRCm39)	V312M	possibly damaging	Het
Pnisr	T	A	4: 21,854,391 (GRCm39)	W12R	unknown	Het
Polr3e	A	G	7: 120,538,462 (GRCm39)	K410R	probably benign	Het
Ppif	G	T	14: 25,694,836 (GRCm39)	V61L	possibly damaging	Het
Pramel5	T	C	4: 144,000,486 (GRCm39)	N30S	probably benign	Het
Prex2	T	G	1: 11,256,130 (GRCm39)	L1167R	probably damaging	Het
Prkacb	A	T	3: 146,461,518 (GRCm39)		probably benign	Het
Prl3a1	T	A	13: 27,460,167 (GRCm39)	L217H	probably damaging	Het
Prop1	G	C	11: 50,842,948 (GRCm39)	Q80E	probably damaging	Het
Psma1	T	C	7: 113,865,764 (GRCm39)	I214V	probably benign	Het
Ptgfr	T	A	3: 151,541,404 (GRCm39)	I35F	probably benign	Het
Rcvrn	A	T	11: 67,586,568 (GRCm39)	Y109F	probably benign	Het
Repin1	A	G	6: 48,574,646 (GRCm39)	D525G	possibly damaging	Het
Slc12a2	A	T	18: 58,054,863 (GRCm39)	R835*	probably null	Het
Stard9	A	T	2: 120,510,418 (GRCm39)	Y333F	probably benign	Het
Tbc1d16	G	A	11: 119,100,090 (GRCm39)	R95C	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Tmem161b	G	T	13: 84,442,754 (GRCm39)	A407S	probably benign	Het
Tnc	G	T	4: 63,918,247 (GRCm39)	D1221E	possibly damaging	Het
Tnks	T	C	8: 35,308,932 (GRCm39)	K1109R	probably damaging	Het
Tpp2	T	C	1: 43,992,502 (GRCm39)	V194A	possibly damaging	Het
Ust	G	A	10: 8,183,218 (GRCm39)	Q162*	probably null	Het
Utp15	T	C	13: 98,395,778 (GRCm39)	Y68C	probably damaging	Het
Vcan	A	T	13: 89,826,224 (GRCm39)	H3193Q	probably damaging	Het
Vmn2r55	T	C	7: 12,418,908 (GRCm39)	Y4C	probably damaging	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
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
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'- ACAGGGTTAGGCCTCATGTG -3'
(R):5'- AGAGCGAGTATTTACACAACTCC -3'

Sequencing Primer
(F):5'- AGGCCTCATGTGGATTTCC -3'
(R):5'- GCGAGTATTTACACAACTCCTCAAC -3'

Posted On

2021-11-19