Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02852:Sqle'

361926

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sqle

Ensembl Gene

ENSMUSG00000022351

Gene Name

squalene epoxidase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02852

Quality Score

Status

Chromosome

Chromosomal Location

59186941-59203042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59197920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 380 (H380L)

Ref Sequence

ENSEMBL: ENSMUSP00000098205 (fasta)

Gene Model

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

AlphaFold

P52019

Predicted Effect

probably damaging
Transcript: ENSMUST00000022977
AA Change: H412L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: H412L

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 damaging
Transcript: ENSMUST00000100640
AA Change: H380L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351
AA Change: H380L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162142

Coding Region Coverage

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcar1	A	T	8: 112,441,979 (GRCm39)	L287*	probably null	Het
Birc2	A	G	9: 7,854,484 (GRCm39)	I402T	probably damaging	Het
Btrc	T	A	19: 45,501,095 (GRCm39)	L153*	probably null	Het
C2cd3	T	C	7: 100,079,396 (GRCm39)	F1245L	probably damaging	Het
Cabp7	C	T	11: 4,688,912 (GRCm39)	R186H	probably damaging	Het
Cdk5r2	T	C	1: 74,895,298 (GRCm39)	S348P	probably benign	Het
Cfhr4	T	C	1: 139,701,754 (GRCm39)	Y120C	probably damaging	Het
Clca3a2	T	C	3: 144,512,104 (GRCm39)	D544G	probably damaging	Het
Col6a6	A	C	9: 105,661,272 (GRCm39)	I279S	probably damaging	Het
Csmd1	T	A	8: 15,945,728 (GRCm39)	T3562S	probably damaging	Het
Dgkd	T	C	1: 87,863,135 (GRCm39)	S61P	probably damaging	Het
Dph5	T	A	3: 115,722,320 (GRCm39)	M266K	possibly damaging	Het
Gm14226	G	A	2: 154,866,841 (GRCm39)	S266N	possibly damaging	Het
Gm28047	A	G	15: 102,446,653 (GRCm39)	V400A	possibly damaging	Het
Gucy1a2	A	G	9: 3,759,691 (GRCm39)	D499G	probably benign	Het
Hoxb7	C	T	11: 96,180,320 (GRCm39)	T173M	possibly damaging	Het
Kcnn3	T	A	3: 89,516,923 (GRCm39)	I444N	probably damaging	Het
Kif1b	A	G	4: 149,375,785 (GRCm39)	I27T	probably damaging	Het
Krtap8-1	A	G	16: 89,284,753 (GRCm39)	Y15H	probably benign	Het
Myo18b	C	T	5: 112,863,377 (GRCm39)	V2154I	probably benign	Het
Pcdhb3	A	G	18: 37,435,150 (GRCm39)	D372G	probably damaging	Het
Pfkp	G	T	13: 6,655,059 (GRCm39)	P340Q	possibly damaging	Het
Plcd3	C	T	11: 102,964,631 (GRCm39)	R580Q	probably damaging	Het
Pou5f2	G	A	13: 78,173,178 (GRCm39)	R40Q	probably benign	Het
Ppara	G	T	15: 85,682,079 (GRCm39)	M258I	probably benign	Het
Proc	A	G	18: 32,258,208 (GRCm39)	S246P	probably damaging	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Ripor2	T	C	13: 24,879,681 (GRCm39)	F383S	probably damaging	Het
Rnf39	T	C	17: 37,256,094 (GRCm39)		probably benign	Het
Sema6c	C	A	3: 95,077,295 (GRCm39)		probably benign	Het
Slc16a5	A	G	11: 115,360,405 (GRCm39)	E196G	probably benign	Het
Slco1c1	T	A	6: 141,493,550 (GRCm39)	L313*	probably null	Het
Slit2	T	C	5: 48,402,014 (GRCm39)	F789S	probably damaging	Het
Spta1	A	G	1: 174,071,676 (GRCm39)	M2219V	probably benign	Het
Tek	T	C	4: 94,743,561 (GRCm39)	Y859H	probably damaging	Het
Trcg1	A	T	9: 57,148,595 (GRCm39)	T56S	possibly damaging	Het
Ttc23	T	A	7: 67,316,903 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,774,648 (GRCm39)		probably benign	Het
Uba1y	C	T	Y: 828,841 (GRCm39)	R550*	probably null	Het
Ubqln4	T	C	3: 88,462,778 (GRCm39)	V81A	probably damaging	Het
Ugt2b38	C	T	5: 87,559,600 (GRCm39)	E431K	probably benign	Het
Vmn1r85	T	G	7: 12,819,010 (GRCm39)	I45L	possibly damaging	Het
Vmn2r68	T	G	7: 84,882,595 (GRCm39)	S386R	probably damaging	Het
Washc4	A	G	10: 83,419,173 (GRCm39)	T902A	possibly damaging	Het
Zc3h15	G	A	2: 83,475,015 (GRCm39)	A7T	possibly damaging	Het
Zdhhc19	A	C	16: 32,316,460 (GRCm39)	T72P	probably damaging	Het
Zfp729a	A	T	13: 67,768,070 (GRCm39)	S720T	possibly damaging	Het
Zfp729b	T	C	13: 67,740,942 (GRCm39)	K441R	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	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
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
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

Posted On

2015-12-18