Mutagenetix > Incidental Mutation

Incidental Mutation 'R2047:Sqle'

222153

Institutional Source

Beutler Lab

Gene Symbol

Sqle

Ensembl Gene

ENSMUSG00000022351

Gene Name

squalene epoxidase

Synonyms

MMRRC Submission

040054-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59186941-59203042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59197907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 376 (Y376H)

Ref Sequence

ENSEMBL: ENSMUSP00000098205 (fasta)

Gene Model

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

AlphaFold

P52019

Predicted Effect

probably benign
Transcript: ENSMUST00000022977
AA Change: Y408H

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: Y408H

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: Y376H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351
AA Change: Y376H

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

Meta Mutation Damage Score

0.2629

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	A	G	7: 130,747,836 (GRCm39)	F52S	probably damaging	Het
Acot12	T	C	13: 91,931,122 (GRCm39)	S457P	probably damaging	Het
Adcy5	G	A	16: 35,110,478 (GRCm39)	V882M	possibly damaging	Het
Ahnak	A	G	19: 8,991,664 (GRCm39)	D4316G	possibly damaging	Het
Aldh1l2	G	A	10: 83,342,607 (GRCm39)	A401V	probably damaging	Het
Apol7e	A	G	15: 77,601,810 (GRCm39)	H136R	probably benign	Het
Arl5a	A	G	2: 52,302,072 (GRCm39)		probably null	Het
Asns	G	T	6: 7,680,093 (GRCm39)	A341E	probably damaging	Het
C7	A	G	15: 5,075,143 (GRCm39)	L183P	probably damaging	Het
Cacng2	C	T	15: 78,003,037 (GRCm39)	A19T	probably damaging	Het
Ccdc121rt2	A	G	5: 112,598,575 (GRCm39)	N374S	probably benign	Het
Ccr4	A	G	9: 114,321,633 (GRCm39)	F144S	probably damaging	Het
Ckap2	A	G	8: 22,658,763 (GRCm39)	V660A	probably benign	Het
Cramp1	A	T	17: 25,222,189 (GRCm39)	Y176*	probably null	Het
Dgki	A	G	6: 36,890,581 (GRCm39)	S922P	possibly damaging	Het
Drd5	C	T	5: 38,477,679 (GRCm39)	S224L	probably damaging	Het
Ei24	T	C	9: 36,691,459 (GRCm39)	K341E	probably benign	Het
Eno2	A	T	6: 124,744,659 (GRCm39)		probably benign	Het
Epb41l4a	T	C	18: 33,961,259 (GRCm39)	N425S	probably benign	Het
F13b	T	G	1: 139,435,961 (GRCm39)	C256G	probably damaging	Het
Gp6	A	T	7: 4,376,270 (GRCm39)		probably benign	Het
H2-Q7	A	T	17: 35,659,123 (GRCm39)	R191S	probably damaging	Het
Ivns1abp	T	A	1: 151,227,382 (GRCm39)	S63R	possibly damaging	Het
Kcnj16	A	G	11: 110,915,946 (GRCm39)		probably null	Het
Lpcat4	T	C	2: 112,075,142 (GRCm39)		probably null	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Maml3	C	A	3: 51,597,866 (GRCm39)	R939S	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Mrpl46	T	A	7: 78,431,312 (GRCm39)	Y82F	probably damaging	Het
Mthfs	T	A	9: 89,097,356 (GRCm39)	I71N	probably damaging	Het
Nectin4	T	C	1: 171,212,720 (GRCm39)	V351A	possibly damaging	Het
Npas3	T	C	12: 54,115,612 (GRCm39)	F827L	probably damaging	Het
Nrp1	G	A	8: 129,224,577 (GRCm39)		probably benign	Het
Ocln	C	A	13: 100,671,632 (GRCm39)	A242S	probably damaging	Het
Or10ad1c	T	A	15: 98,084,920 (GRCm39)	T253S	probably damaging	Het
Or13g1	G	A	7: 85,956,012 (GRCm39)	T103I	probably damaging	Het
Or5d37	A	T	2: 87,924,237 (GRCm39)	N14K	probably benign	Het
Pappa	T	C	4: 65,149,378 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,698,752 (GRCm39)	T480A	probably benign	Het
Pycr1	A	T	11: 120,532,512 (GRCm39)	D168E	possibly damaging	Het
Rnf6	T	C	5: 146,148,674 (GRCm39)	T126A	probably damaging	Het
Slc25a39	G	A	11: 102,296,657 (GRCm39)		probably benign	Het
Slc35f4	G	T	14: 49,541,029 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,768,772 (GRCm39)	A112T	probably damaging	Het
Sptbn1	A	C	11: 30,088,360 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,212,094 (GRCm39)	Y296N	probably damaging	Het
Ttbk2	T	C	2: 120,579,397 (GRCm39)	H506R	probably damaging	Het
Ttn	T	C	2: 76,737,879 (GRCm39)	D4220G	probably benign	Het
Tub	A	G	7: 108,625,939 (GRCm39)	D230G	probably benign	Het
Ube2d3	T	A	3: 135,170,967 (GRCm39)	I137K	probably benign	Het
Vldlr	G	T	19: 27,212,238 (GRCm39)	C84F	probably damaging	Het
Vmn1r54	A	T	6: 90,246,970 (GRCm39)	I295F	probably damaging	Het
Vmn2r56	A	G	7: 12,466,918 (GRCm39)	S39P	probably damaging	Het
Zfp358	A	G	8: 3,545,934 (GRCm39)	H172R	probably damaging	Het
Zfp619	T	C	7: 39,187,062 (GRCm39)	C1031R	probably damaging	Het
Zfp777	A	G	6: 48,021,280 (GRCm39)	I114T	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCATCAGCTTTGTTGAGATCC -3'
(R):5'- CATAGATTCCCACTGGGCTC -3'

Sequencing Primer
(F):5'- GAGATCCTAAGTTTTTCAGTTCAGCC -3'
(R):5'- CAGTCTGCTCATTCATCAACAGATG -3'

Posted On

2014-08-25