Mutagenetix > Incidental Mutation

Incidental Mutation 'R7704:Sec14l2'

594195

Institutional Source

Beutler Lab

Gene Symbol

Sec14l2

Ensembl Gene

ENSMUSG00000003585

Gene Name

SEC14-like lipid binding 2

Synonyms

1300013M05Rik, Spf, tap

MMRRC Submission

045765-MU

Accession Numbers

Essential gene?

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

Stock #

R7704 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4047039-4068729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4058574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 196 (K196R)

Ref Sequence

ENSEMBL: ENSMUSP00000003681 (fasta)

Gene Model

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

AlphaFold

Q99J08

Predicted Effect

probably benign
Transcript: ENSMUST00000003681
AA Change: K196R

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: K196R

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: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,756,068 (GRCm39)	W1458L	probably damaging	Het
Actn4	A	T	7: 28,596,467 (GRCm39)	I676N	possibly damaging	Het
Adamts10	T	C	17: 33,770,126 (GRCm39)	C1002R	probably damaging	Het
Agbl2	A	C	2: 90,619,349 (GRCm39)	N58T	probably benign	Het
Akap12	A	T	10: 4,306,082 (GRCm39)	D1069V	probably damaging	Het
Bltp2	C	A	11: 78,159,570 (GRCm39)	Q540K	probably benign	Het
Cfap65	T	A	1: 74,967,527 (GRCm39)	T184S	probably benign	Het
Chd1	T	C	17: 15,987,737 (GRCm39)	V1517A	probably benign	Het
CN725425	T	A	15: 91,119,993 (GRCm39)	V38D	possibly damaging	Het
Copg1	T	A	6: 87,884,940 (GRCm39)	L712Q	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Ddx21	T	C	10: 62,429,865 (GRCm39)	Y293C	probably damaging	Het
Ddx46	C	T	13: 55,821,832 (GRCm39)	P839S	probably benign	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dync1h1	T	A	12: 110,632,200 (GRCm39)	I4490N	probably damaging	Het
Ecm1	A	C	3: 95,643,843 (GRCm39)	Y236D	probably damaging	Het
Fat2	T	C	11: 55,175,173 (GRCm39)	T1847A	probably benign	Het
Galc	T	A	12: 98,175,102 (GRCm39)	I567L	probably benign	Het
Gask1a	C	T	9: 121,780,151 (GRCm39)		probably benign	Het
H6pd	T	C	4: 150,067,360 (GRCm39)	D350G	probably benign	Het
Ifi44	A	G	3: 151,438,061 (GRCm39)	Y409H	probably benign	Het
Kdm5a	T	G	6: 120,404,025 (GRCm39)	F1210C	probably damaging	Het
Kdm5b	C	T	1: 134,515,669 (GRCm39)	R98C	probably damaging	Het
Lipt1	T	A	1: 37,915,043 (GRCm39)	C366*	probably null	Het
Med13	G	A	11: 86,236,744 (GRCm39)	R138*	probably null	Het
Mterf1a	A	G	5: 3,941,845 (GRCm39)	C8R	probably benign	Het
Ncapg2	A	T	12: 116,382,897 (GRCm39)	I243F	probably damaging	Het
Nop58	T	C	1: 59,744,754 (GRCm39)	S304P	probably damaging	Het
Nsd2	T	C	5: 34,028,811 (GRCm39)	*167Q	probably null	Het
Or1e30	T	G	11: 73,678,616 (GRCm39)	M284R	probably damaging	Het
Or2t35	T	A	14: 14,407,867 (GRCm38)	I213N	probably damaging	Het
Or52ab2	T	A	7: 102,969,978 (GRCm39)	M120K		Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prdm16	C	T	4: 154,425,947 (GRCm39)	G613R	probably damaging	Het
Prss46	T	C	9: 110,679,065 (GRCm39)	S89P	probably damaging	Het
Scin	T	C	12: 40,174,687 (GRCm39)	N132S	possibly damaging	Het
Sox17	C	A	1: 4,563,895 (GRCm39)		probably benign	Het
Tango6	A	G	8: 107,425,621 (GRCm39)	T394A	probably benign	Het
Tbc1d22a	T	A	15: 86,250,876 (GRCm39)	I398N	probably damaging	Het
Tdpoz8	A	G	3: 92,981,752 (GRCm39)	I183V	probably benign	Het
Tmem8b	T	C	4: 43,689,461 (GRCm39)	V285A	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,497 (GRCm39)	T35S	probably benign	Het
Unc13c	T	A	9: 73,606,494 (GRCm39)	I1289F	probably benign	Het
Ust	C	T	10: 8,205,987 (GRCm39)	V99I	probably benign	Het
Vmn1r76	A	G	7: 11,664,344 (GRCm39)	V290A	probably benign	Het
Vmn2r50	T	C	7: 9,781,665 (GRCm39)	N360S	probably benign	Het
Vmn2r93	T	C	17: 18,536,910 (GRCm39)	I531T	probably benign	Het
Zap70	T	C	1: 36,818,395 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,630 (GRCm39)	N443D	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
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'- CCTGTGTCCCAACTACTCCTAAAG -3'
(R):5'- AGAGCATTTGAGCCACCAGG -3'

Sequencing Primer
(F):5'- TGTCCCAACTACTCCTAAAGCAGAAG -3'
(R):5'- TTCAGGCTGGTGCTGCC -3'

Posted On

2019-11-12