Mutagenetix > Incidental Mutation

Incidental Mutation 'R8438:Sec14l2'

654113

Institutional Source

Beutler Lab

Gene Symbol

Sec14l2

Ensembl Gene

ENSMUSG00000003585

Gene Name

SEC14-like lipid binding 2

Synonyms

1300013M05Rik, Spf, tap

MMRRC Submission

067778-MU

Accession Numbers

Essential gene?

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

Stock #

R8438 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4047039-4068729 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 4059202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 156 (E156*)

Ref Sequence

ENSEMBL: ENSMUSP00000003681 (fasta)

Gene Model

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

AlphaFold

Q99J08

Predicted Effect

probably null
Transcript: ENSMUST00000003681
AA Change: E156*

SMART Domains

Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: E156*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,201,962 (GRCm39)		probably null	Het
5730480H06Rik	A	T	5: 48,534,425 (GRCm39)	H95L	probably damaging	Het
Abca8a	A	G	11: 109,966,404 (GRCm39)	Y410H	probably damaging	Het
Abcb4	G	A	5: 8,996,120 (GRCm39)		probably null	Het
Adam8	C	T	7: 139,565,249 (GRCm39)		probably null	Het
Aldh1l1	C	T	6: 90,536,428 (GRCm39)	P111L	probably damaging	Het
Baz2b	G	T	2: 59,747,828 (GRCm39)	Y1278*	probably null	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Casp9	C	A	4: 141,540,934 (GRCm39)	T434N	probably benign	Het
Cd19	C	A	7: 126,013,515 (GRCm39)	M91I	possibly damaging	Het
Celsr2	G	A	3: 108,301,139 (GRCm39)	T2718M	probably damaging	Het
Clptm1	G	T	7: 19,379,776 (GRCm39)	D153E	probably benign	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Col1a2	G	T	6: 4,515,518 (GRCm39)	G127V	unknown	Het
Crybg3	A	G	16: 59,385,655 (GRCm39)	S190P	probably benign	Het
Ddrgk1	G	A	2: 130,505,302 (GRCm39)		probably benign	Het
Dennd1a	T	C	2: 37,746,150 (GRCm39)	H402R	probably benign	Het
Dgat2	T	C	7: 98,806,207 (GRCm39)	Y330C	probably damaging	Het
Dnah7b	G	A	1: 46,227,839 (GRCm39)	C1354Y	probably damaging	Het
Ecd	T	A	14: 20,388,533 (GRCm39)	I119L	possibly damaging	Het
Entpd1	A	G	19: 40,725,224 (GRCm39)	K437E	possibly damaging	Het
Fcgbp	C	T	7: 27,789,231 (GRCm39)	A599V	probably benign	Het
Gtf3c1	G	T	7: 125,241,701 (GRCm39)	S1999*	probably null	Het
Hesx1	C	T	14: 26,723,460 (GRCm39)	R97C	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hoxb3	A	G	11: 96,236,609 (GRCm39)	N229S	probably benign	Het
Itpk1	G	A	12: 102,572,418 (GRCm39)		probably benign	Het
Itprid1	C	T	6: 55,874,878 (GRCm39)	S276L	probably damaging	Het
Masp1	T	C	16: 23,289,153 (GRCm39)	D549G	probably benign	Het
Mef2c	A	G	13: 83,804,336 (GRCm39)	E312G	probably damaging	Het
Morn5	A	G	2: 35,945,076 (GRCm39)	K100R	probably benign	Het
Mphosph9	A	T	5: 124,430,455 (GRCm39)	D610E	probably benign	Het
Obox6	G	C	7: 15,567,853 (GRCm39)	A198G	probably damaging	Het
Or2t43	A	T	11: 58,457,665 (GRCm39)	S169T	possibly damaging	Het
Or4a75	C	T	2: 89,448,054 (GRCm39)	V161M	possibly damaging	Het
Or4a80	A	T	2: 89,583,061 (GRCm39)	M37K	probably damaging	Het
Or6b13	C	A	7: 139,782,170 (GRCm39)	C171F	probably damaging	Het
Pcdhgb2	A	G	18: 37,825,232 (GRCm39)	N741S	probably benign	Het
Plekhh2	A	G	17: 84,877,379 (GRCm39)	N575D	probably benign	Het
Plxna4	C	A	6: 32,179,115 (GRCm39)	G967W	probably damaging	Het
Ppp3cb	C	T	14: 20,565,658 (GRCm39)	M373I	probably damaging	Het
Srrt	A	T	5: 137,301,262 (GRCm39)	Y55N	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,743,057 (GRCm39)	T789I	probably damaging	Het
Top3b	G	T	16: 16,709,364 (GRCm39)	S684I	probably benign	Het
Trpc4	A	G	3: 54,129,674 (GRCm39)	I147V	possibly damaging	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn1r31	T	A	6: 58,449,646 (GRCm39)	D73V		Het
Wasf3	A	T	5: 146,390,237 (GRCm39)	Q127L	probably benign	Het
Xpo6	T	C	7: 125,760,054 (GRCm39)	T182A	possibly damaging	Het
Xpo7	C	A	14: 70,940,672 (GRCm39)	R139S	probably benign	Het
Zfp687	A	T	3: 94,915,433 (GRCm39)	S1058T	probably benign	Het
Zfp786	T	C	6: 47,796,934 (GRCm39)	E668G	probably damaging	Het
Zfp831	A	T	2: 174,486,796 (GRCm39)	R490S	possibly damaging	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
R9307:Sec14l2	UTSW	11	4,068,665 (GRCm39)	missense	probably benign	0.01
R9756:Sec14l2	UTSW	11	4,053,978 (GRCm39)	nonsense	probably null
T0722:Sec14l2	UTSW	11	4,053,673 (GRCm39)	critical splice donor site	probably null
X0067:Sec14l2	UTSW	11	4,066,737 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACGCTTCAGTGTTTCAGG -3'
(R):5'- GGTCAGTATCCCTCCATAGGTG -3'

Sequencing Primer
(F):5'- TCTTCAAACATGGTGAGGAACTAAG -3'
(R):5'- TGATACCTGCGTGTGAAAAACCTG -3'

Posted On

2020-10-20