Mutagenetix > Incidental Mutation

Incidental Mutation 'R2180:Sec14l2'

237138

Institutional Source

Beutler Lab

Gene Symbol

Sec14l2

Ensembl Gene

ENSMUSG00000003585

Gene Name

SEC14-like lipid binding 2

Synonyms

1300013M05Rik, Spf, tap

MMRRC Submission

040182-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R2180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4047039-4068729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4058964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 194 (A194T)

Ref Sequence

ENSEMBL: ENSMUSP00000003681 (fasta)

Gene Model

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

AlphaFold

Q99J08

Predicted Effect

probably damaging
Transcript: ENSMUST00000003681
AA Change: A194T

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

SMART Domains

Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: A194T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145173

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	C	16: 85,684,812 (GRCm39)	D377G	probably damaging	Het
Adgrl4	A	T	3: 151,205,779 (GRCm39)	I164F	probably damaging	Het
Anxa9	T	C	3: 95,213,735 (GRCm39)		probably null	Het
Aox4	A	T	1: 58,252,226 (GRCm39)	T34S	probably benign	Het
Asic1	G	T	15: 99,569,846 (GRCm39)	V56F	probably benign	Het
Atpaf1	T	C	4: 115,645,557 (GRCm39)	M1T	probably null	Het
Axin1	A	G	17: 26,362,309 (GRCm39)	T218A	probably benign	Het
Bdp1	ATTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTC	13: 100,197,913 (GRCm39)		probably benign	Het
Birc6	T	C	17: 74,919,146 (GRCm39)	I1988T	probably benign	Het
Btbd7	A	T	12: 102,752,156 (GRCm39)	D869E	probably damaging	Het
Caln1	T	C	5: 130,868,249 (GRCm39)	*220Q	probably null	Het
Ccdc150	G	A	1: 54,311,706 (GRCm39)		probably null	Het
Ccnt1	A	T	15: 98,441,481 (GRCm39)	S596T	possibly damaging	Het
Cd44	C	T	2: 102,658,955 (GRCm39)	G640E	possibly damaging	Het
Cep192	A	G	18: 67,957,813 (GRCm39)	E582G	possibly damaging	Het
Clcnkb	G	T	4: 141,136,819 (GRCm39)		probably null	Het
Dhx29	T	C	13: 113,099,406 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,059,621 (GRCm39)	F4407S	probably benign	Het
Enah	A	T	1: 181,746,024 (GRCm39)	M419K	probably damaging	Het
Fancd2	A	T	6: 113,551,598 (GRCm39)	T1055S	probably benign	Het
Gigyf2	G	A	1: 87,344,642 (GRCm39)	G525D	probably damaging	Het
Gm5800	T	A	14: 51,953,451 (GRCm39)	K55*	probably null	Het
Gpr149	A	G	3: 62,511,489 (GRCm39)	L170P	probably damaging	Het
Grik4	A	T	9: 42,453,301 (GRCm39)	Y695N	probably benign	Het
Gsg1	A	T	6: 135,217,143 (GRCm39)	V228D	probably damaging	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Helz2	A	T	2: 180,875,525 (GRCm39)	D1656E	probably damaging	Het
Hyou1	A	T	9: 44,299,316 (GRCm39)	K669M	probably benign	Het
Itga2	T	C	13: 114,985,917 (GRCm39)	N953D	possibly damaging	Het
Ldhd	T	C	8: 112,356,018 (GRCm39)	I122V	probably benign	Het
Lrrtm1	A	G	6: 77,221,329 (GRCm39)	D262G	probably damaging	Het
Mapkapk5	T	C	5: 121,673,927 (GRCm39)		probably null	Het
Msantd5l	C	A	11: 51,145,437 (GRCm39)	W50L	probably damaging	Het
Niban1	A	T	1: 151,593,829 (GRCm39)	H838L	probably benign	Het
Numa1	T	C	7: 101,649,197 (GRCm39)	I976T	probably benign	Het
Or10x1	A	G	1: 174,196,967 (GRCm39)	I161M	probably damaging	Het
Or2a12	C	T	6: 42,904,459 (GRCm39)	T98I	probably benign	Het
Or4f14b	A	G	2: 111,775,348 (GRCm39)	V151A	probably benign	Het
Or52e4	T	C	7: 104,706,092 (GRCm39)	I213T	probably benign	Het
Patj	G	A	4: 98,411,739 (GRCm39)		probably null	Het
Pfas	T	C	11: 68,883,013 (GRCm39)	D757G	possibly damaging	Het
Pom121l2	A	G	13: 22,166,145 (GRCm39)	N139D	probably benign	Het
Ppp2r3d	A	T	9: 101,004,214 (GRCm39)	Y994*	probably null	Het
Ppp6c	T	C	2: 39,087,525 (GRCm39)	D227G	probably benign	Het
Ptpn13	T	G	5: 103,717,424 (GRCm39)	H1855Q	probably damaging	Het
Ptprh	T	A	7: 4,604,867 (GRCm39)	Q59L	probably benign	Het
Rap1gap2	T	C	11: 74,283,972 (GRCm39)	K669E	probably benign	Het
Rbl2	T	C	8: 91,816,683 (GRCm39)	S348P	possibly damaging	Het
Rptor	T	A	11: 119,615,970 (GRCm39)	N161K	probably damaging	Het
Satb1	C	T	17: 52,110,524 (GRCm39)	A192T	probably damaging	Het
Scn5a	A	G	9: 119,345,117 (GRCm39)	V1083A	probably benign	Het
Sema4b	A	G	7: 79,862,583 (GRCm39)	N53S	probably benign	Het
Sin3b	T	A	8: 73,479,923 (GRCm39)	Y876*	probably null	Het
Smchd1	C	A	17: 71,770,794 (GRCm39)	M129I	probably benign	Het
Spmip6	T	A	4: 41,507,170 (GRCm39)	M209L	probably benign	Het
Tmc1	T	C	19: 20,801,448 (GRCm39)	Y484C	probably damaging	Het
Utp20	A	G	10: 88,656,801 (GRCm39)	S135P	probably damaging	Het
Zfp266	A	T	9: 20,410,975 (GRCm39)	C401S	probably damaging	Het
Zfp738	G	A	13: 67,819,313 (GRCm39)	T226I	probably damaging	Het
Zfp871	G	A	17: 32,994,275 (GRCm39)	T300M	probably 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
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
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'- TCTGGGAGCTGTAAAGCATC -3'
(R):5'- ACCTCTGGAAACCTGCAGTG -3'

Sequencing Primer
(F):5'- CTGTACAGGTTAAGGTCAACGTC -3'
(R):5'- AACCTGCAGTGGAGGCCTATG -3'

Posted On

2014-10-02