Mutagenetix > Incidental Mutation

Incidental Mutation 'T0722:Sec14l2'

67340

Institutional Source

Beutler Lab

Gene Symbol

Sec14l2

Ensembl Gene

ENSMUSG00000003585

Gene Name

SEC14-like lipid binding 2

Synonyms

1300013M05Rik, Spf, tap

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

T0722 (G3) of strain 711

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4047039-4068729 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 4053673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003681] [ENSMUST00000003681] [ENSMUST00000003681]

AlphaFold

Q99J08

Predicted Effect

probably null
Transcript: ENSMUST00000003681

SMART Domains

Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	34	59	1.16e-6	SMART
SEC14	76	246	8.31e-62	SMART
Blast:SEC14	257	338	2e-42	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000003681

SMART Domains

Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	34	59	1.16e-6	SMART
SEC14	76	246	8.31e-62	SMART
Blast:SEC14	257	338	2e-42	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000003681

SMART Domains

Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	34	59	1.16e-6	SMART
SEC14	76	246	8.31e-62	SMART
Blast:SEC14	257	338	2e-42	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133631

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

95% (42/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased cholesterol synthesis and plasma levels under fasting conditions compared to wild-type mice. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(4) Gene trapped(1)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,453,197 (GRCm39)	T5A	possibly damaging	Het
Adam6b	T	A	12: 113,454,888 (GRCm39)	D568E	probably benign	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ago3	T	G	4: 126,298,089 (GRCm39)	T144P	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Atp6v1g3	T	A	1: 138,201,591 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bicd2	C	A	13: 49,533,127 (GRCm39)	P571Q	probably benign	Het
Camta2	A	G	11: 70,574,831 (GRCm39)	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Cdk5r1	G	T	11: 80,368,707 (GRCm39)	V125F	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Cngb1	A	G	8: 96,023,278 (GRCm39)	M240T	probably benign	Het
Cngb1	G	A	8: 96,030,342 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 96,030,324 (GRCm39)		probably benign	Het
Cngb1	G	T	8: 96,024,447 (GRCm39)	Q205K	probably damaging	Het
Cog8	G	T	8: 107,775,625 (GRCm39)	L580I	probably benign	Het
Copa	A	G	1: 171,939,515 (GRCm39)	E593G	possibly damaging	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,456,755 (GRCm39)	F696S	probably benign	Het
Ddi2	G	A	4: 141,440,784 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,807,841 (GRCm39)	D984G	probably null	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Fstl3	A	G	10: 79,615,997 (GRCm39)	Y161C	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm8186	C	T	17: 26,318,101 (GRCm39)	R32Q	probably benign	Het
Jakmip1	C	A	5: 37,276,247 (GRCm39)	A519D	probably damaging	Het
Jcad	G	T	18: 4,675,531 (GRCm39)	A1098S	probably benign	Het
Klhl14	T	C	18: 21,691,192 (GRCm39)	Y446C	probably damaging	Het
Lims1	A	G	10: 58,254,277 (GRCm39)	N344D	probably benign	Het
Marco	A	T	1: 120,402,441 (GRCm39)	W502R	probably damaging	Het
Mmp13	G	T	9: 7,280,857 (GRCm39)	M413I	possibly damaging	Het
Mmp25	G	A	17: 23,850,192 (GRCm39)	A456V	possibly damaging	Het
Msi2	A	T	11: 88,285,423 (GRCm39)	M207K	probably damaging	Het
Myh8	G	A	11: 67,195,262 (GRCm39)	R1692Q	probably benign	Het
Nbas	A	G	12: 13,402,809 (GRCm39)	I788V	probably benign	Het
Nup188	A	G	2: 30,212,693 (GRCm39)	D632G	probably damaging	Het
Opa1	T	C	16: 29,429,748 (GRCm39)		probably null	Het
Or12k7	T	G	2: 36,958,449 (GRCm39)	L44R	probably damaging	Het
Or1n2	T	C	2: 36,797,582 (GRCm39)	V208A	probably benign	Het
Or4c114	A	G	2: 88,905,303 (GRCm39)	V44A	probably benign	Het
Or5w17	T	A	2: 87,583,467 (GRCm39)	Y290F	probably damaging	Het
Pabpc1l	G	A	2: 163,884,340 (GRCm39)	G359D	possibly damaging	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Psma5-ps	A	G	10: 85,149,457 (GRCm39)		noncoding transcript	Het
Qser1	A	G	2: 104,617,177 (GRCm39)	C1122R	possibly damaging	Het
Rfx8	A	G	1: 39,722,772 (GRCm39)	S282P	probably damaging	Het
Sim2	C	A	16: 93,910,281 (GRCm39)	H228N	probably benign	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc30a6	T	A	17: 74,719,319 (GRCm39)		probably null	Het
Smarcc1	G	A	9: 110,035,153 (GRCm39)	E859K	possibly damaging	Het
Snx1	CTT	CTTGTT	9: 66,012,209 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Spta1	A	G	1: 174,018,632 (GRCm39)		probably benign	Het
Sytl1	C	A	4: 132,984,162 (GRCm39)		probably benign	Het
Sytl1	A	G	4: 132,984,164 (GRCm39)		probably benign	Het
Tent4a	G	A	13: 69,655,074 (GRCm39)	R224*	probably null	Het
Terf2	T	C	8: 107,803,306 (GRCm39)	K425E	probably benign	Het
Tmem26	A	G	10: 68,614,548 (GRCm39)	E321G	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Uck2	A	T	1: 167,062,280 (GRCm39)	D149E	probably benign	Het
Wnt5a	G	A	14: 28,233,882 (GRCm39)	A17T	probably benign	Het
Yif1b	T	C	7: 28,938,038 (GRCm39)		probably null	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het

Other mutations in Sec14l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Sec14l2	APN	11	4,048,317 (GRCm39)	missense	probably benign
IGL01369:Sec14l2	APN	11	4,053,432 (GRCm39)	missense	probably benign	0.03
IGL01404:Sec14l2	APN	11	4,066,710 (GRCm39)	missense	possibly damaging	0.71
IGL01622:Sec14l2	APN	11	4,053,966 (GRCm39)	missense	possibly damaging	0.58
IGL01623:Sec14l2	APN	11	4,053,966 (GRCm39)	missense	possibly damaging	0.58
IGL02007:Sec14l2	APN	11	4,061,114 (GRCm39)	missense	probably benign	0.00
IGL02632:Sec14l2	APN	11	4,061,222 (GRCm39)	missense	probably benign	0.00
IGL02644:Sec14l2	APN	11	4,053,380 (GRCm39)	splice site	probably benign
Samoas	UTSW	11	4,053,980 (GRCm39)	missense	possibly damaging	0.74
P0027:Sec14l2	UTSW	11	4,053,673 (GRCm39)	critical splice donor site	probably null
PIT1430001:Sec14l2	UTSW	11	4,059,209 (GRCm39)	nonsense	probably null
R0113:Sec14l2	UTSW	11	4,053,661 (GRCm39)	splice site	probably benign
R1705:Sec14l2	UTSW	11	4,053,980 (GRCm39)	missense	possibly damaging	0.74
R2044:Sec14l2	UTSW	11	4,061,435 (GRCm39)	splice site	probably benign
R2180:Sec14l2	UTSW	11	4,058,964 (GRCm39)	missense	probably damaging	1.00
R2215:Sec14l2	UTSW	11	4,059,169 (GRCm39)	missense	probably damaging	1.00
R5301:Sec14l2	UTSW	11	4,068,727 (GRCm39)	start gained	probably benign
R5668:Sec14l2	UTSW	11	4,059,189 (GRCm39)	missense	probably damaging	1.00
R5949:Sec14l2	UTSW	11	4,058,972 (GRCm39)	missense	probably damaging	1.00
R6050:Sec14l2	UTSW	11	4,061,477 (GRCm39)	missense	probably benign	0.36
R6369:Sec14l2	UTSW	11	4,053,962 (GRCm39)	missense	possibly damaging	0.69
R6467:Sec14l2	UTSW	11	4,061,161 (GRCm39)	missense	probably damaging	1.00
R6798:Sec14l2	UTSW	11	4,061,213 (GRCm39)	missense	probably damaging	1.00
R7142:Sec14l2	UTSW	11	4,048,379 (GRCm39)	missense	probably benign	0.04
R7385:Sec14l2	UTSW	11	4,066,750 (GRCm39)	nonsense	probably null
R7594:Sec14l2	UTSW	11	4,061,213 (GRCm39)	missense	probably damaging	1.00
R7704:Sec14l2	UTSW	11	4,058,574 (GRCm39)	missense	probably benign	0.19
R8438:Sec14l2	UTSW	11	4,059,202 (GRCm39)	nonsense	probably null
R9307:Sec14l2	UTSW	11	4,068,665 (GRCm39)	missense	probably benign	0.01
R9756:Sec14l2	UTSW	11	4,053,978 (GRCm39)	nonsense	probably null
X0067:Sec14l2	UTSW	11	4,066,737 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATCTCTGGTTTGGCAGCACCTC -3'
(R):5'- CATGACAGATCCTGACGGAAATCCC -3'

Sequencing Primer
(F):5'- GCAGCACCTCCGTCATC -3'
(R):5'- AGGACCTTAGCTCAGATGTGC -3'

Posted On

2013-09-03