Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Sqle'

589351

Institutional Source

Beutler Lab

Gene Symbol

Sqle

Ensembl Gene

ENSMUSG00000022351

Gene Name

squalene epoxidase

Synonyms

MMRRC Submission

045689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59186941-59203042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59202603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 519 (R519Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000022977] [ENSMUST00000100640] [ENSMUST00000227725]

AlphaFold

P52019

Predicted Effect

probably benign
Transcript: ENSMUST00000022976

SMART Domains

Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350

Domain	Start	End	E-Value	Type
Pfam:Strumpellin	23	1103	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022977
AA Change: R519Q

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: R519Q

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: R487Q

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351
AA Change: R487Q

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

probably benign
Transcript: ENSMUST00000227725

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,366,068 (GRCm39)	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,603,022 (GRCm39)	M514L	possibly damaging	Het
Ccdc78	A	G	17: 26,006,126 (GRCm39)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,226,865 (GRCm39)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 96,478,447 (GRCm39)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,553,076 (GRCm39)		probably null	Het
Col4a3	A	G	1: 82,696,605 (GRCm39)	T177A	probably benign	Het
Cpa3	T	C	3: 20,279,307 (GRCm39)	N211D	possibly damaging	Het
Cripto	C	T	9: 110,775,017 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,613,543 (GRCm39)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,377,897 (GRCm39)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,126,498 (GRCm39)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,773,019 (GRCm39)	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,318 (GRCm39)	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,320 (GRCm39)	I210N	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Eya3	A	G	4: 132,400,262 (GRCm39)	T94A	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,871,165 (GRCm39)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,876,751 (GRCm39)	F309L	probably benign	Het
Gfra1	A	T	19: 58,226,878 (GRCm39)	M451K	probably benign	Het
Gm43517	T	A	12: 49,437,961 (GRCm39)	L318Q		Het
Gsc	A	T	12: 104,439,310 (GRCm39)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,168,280 (GRCm39)	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Itga10	T	A	3: 96,560,269 (GRCm39)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,226,137 (GRCm39)	D28G	probably benign	Het
Kiss1	A	G	1: 133,257,160 (GRCm39)	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Lcorl	T	C	5: 45,859,307 (GRCm39)	D269G	probably benign	Het
Letm2	A	T	8: 26,082,553 (GRCm39)	C174*	probably null	Het
Met	T	G	6: 17,558,834 (GRCm39)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,424,000 (GRCm39)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,946,613 (GRCm39)	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,435,252 (GRCm39)	L604P	probably damaging	Het
Or12e10	A	G	2: 87,640,683 (GRCm39)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,265,769 (GRCm39)	F28S	possibly damaging	Het
Or5h18	T	A	16: 58,847,382 (GRCm39)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,583,919 (GRCm39)	V274I	probably benign	Het
Or8u9	A	T	2: 86,001,564 (GRCm39)	I199N	possibly damaging	Het
Or9r7	A	C	10: 129,962,455 (GRCm39)	I157S	probably damaging	Het
Pcdha9	T	A	18: 37,132,849 (GRCm39)	Y639*	probably null	Het
Pom121l2	A	T	13: 22,167,699 (GRCm39)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,986,967 (GRCm39)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,309,499 (GRCm39)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,951,401 (GRCm39)	M101L	probably benign	Het
Rtkn	A	G	6: 83,129,158 (GRCm39)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,324,305 (GRCm39)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,405,242 (GRCm39)		probably null	Het
Serpinb1b	T	A	13: 33,275,622 (GRCm39)		probably null	Het
Sgsm1	A	T	5: 113,422,201 (GRCm39)	C484*	probably null	Het
Slc22a19	T	A	19: 7,650,668 (GRCm39)	K547*	probably null	Het
Slc22a19	T	C	19: 7,671,183 (GRCm39)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,591,614 (GRCm39)	K526N	probably benign	Het
Stard9	T	C	2: 120,518,627 (GRCm39)	I517T	probably benign	Het
Taf15	A	T	11: 83,395,849 (GRCm39)	D518V	unknown	Het
Tenm4	A	G	7: 96,545,192 (GRCm39)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,518,458 (GRCm39)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,728,053 (GRCm39)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,777,471 (GRCm39)		probably benign	Het
Ugt2b34	C	T	5: 87,039,141 (GRCm39)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,273,693 (GRCm39)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,566,906 (GRCm39)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,678,600 (GRCm39)	M94L	probably benign	Het
Wnk4	G	T	11: 101,155,180 (GRCm39)	E364*	probably null	Het
Xpo1	T	A	11: 23,232,584 (GRCm39)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,382,804 (GRCm39)	T656A	probably benign	Het
Zfp934	T	C	13: 62,666,338 (GRCm39)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,097,994 (GRCm39)	V134A	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
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'- TCTCAAAGCGCTCATTTCTTCTAAG -3'
(R):5'- ACGTGGACTCCCTTTCAATG -3'

Sequencing Primer
(F):5'- TGAGCTTGCTAAGTCCTC -3'
(R):5'- GTGGACTCCCTTTCAATGAACCAG -3'

Posted On

2019-10-24