Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Sec14l4'

343688

Institutional Source

Beutler Lab

Gene Symbol

Sec14l4

Ensembl Gene

ENSMUSG00000019368

Gene Name

SEC14-like lipid binding 4

Synonyms

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3981462-3998024 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 3993375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019512]

AlphaFold

Q8R0F9

Predicted Effect

probably null
Transcript: ENSMUST00000019512

SMART Domains

Protein: ENSMUSP00000019512
Gene: ENSMUSG00000019368

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	34	59	1.89e-6	SMART
SEC14	76	246	7.7e-57	SMART
Blast:SEC14	257	338	2e-36	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137324

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,828 (GRCm39)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,754,146 (GRCm39)	D20G	possibly damaging	Het
Abca7	A	G	10: 79,842,402 (GRCm39)	D1112G	probably benign	Het
Actc1	G	T	2: 113,880,089 (GRCm39)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,279,595 (GRCm39)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,430,979 (GRCm39)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,771,205 (GRCm39)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,587,121 (GRCm39)	I991T	probably damaging	Het
Cacna1s	T	A	1: 135,998,708 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,359,515 (GRCm39)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,869 (GRCm39)	I110N	probably damaging	Het
Cenpe	A	G	3: 134,952,761 (GRCm39)	K1484E	probably benign	Het
Cep68	A	G	11: 20,189,333 (GRCm39)	S560P	probably benign	Het
Cog3	G	T	14: 75,970,391 (GRCm39)	T352K	probably benign	Het
Cox6a2	A	G	7: 127,805,152 (GRCm39)	S44P	possibly damaging	Het
Cplane1	C	A	15: 8,201,282 (GRCm39)	P20T	possibly damaging	Het
Csmd2	T	C	4: 128,262,881 (GRCm39)	V689A	probably benign	Het
Ddx60	A	T	8: 62,476,295 (GRCm39)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 148,918,482 (GRCm39)		silent	Het
Dlgap2	T	C	8: 14,896,679 (GRCm39)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,170,440 (GRCm39)	D502E	probably damaging	Het
Efhb	C	A	17: 53,733,303 (GRCm39)	A523S	probably damaging	Het
Epha8	C	T	4: 136,660,775 (GRCm39)	V648M	probably damaging	Het
Fanca	C	T	8: 124,001,077 (GRCm39)		probably null	Het
Fbxw7	G	A	3: 84,874,852 (GRCm39)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,512,075 (GRCm39)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,273,880 (GRCm39)	E112G	probably damaging	Het
Gm7535	T	C	17: 18,131,345 (GRCm39)		probably benign	Het
Irf2bp2	T	A	8: 127,317,994 (GRCm39)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,622,925 (GRCm39)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,275,576 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,198,912 (GRCm39)		probably null	Het
Mafa	G	T	15: 75,619,585 (GRCm39)	P63T	unknown	Het
Mars2	T	A	1: 55,277,021 (GRCm39)	L208H	probably damaging	Het
Myom2	A	G	8: 15,156,459 (GRCm39)	I769V	probably benign	Het
Nyap1	A	G	5: 137,734,284 (GRCm39)	S250P	probably damaging	Het
Or8k35	A	T	2: 86,424,572 (GRCm39)	M200K	probably benign	Het
Osmr	C	T	15: 6,872,375 (GRCm39)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,809,934 (GRCm39)	T796A	probably benign	Het
Pclo	T	C	5: 14,725,519 (GRCm39)	V1459A	unknown	Het
Phactr3	A	C	2: 177,924,965 (GRCm39)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,587,383 (GRCm39)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,407,810 (GRCm39)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,160,986 (GRCm39)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Six1	T	G	12: 73,092,708 (GRCm39)	T165P	probably benign	Het
Skint4	T	C	4: 111,944,239 (GRCm39)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,359,740 (GRCm39)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,312,284 (GRCm39)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm39)		probably null	Het
Spryd3	A	G	15: 102,038,799 (GRCm39)	S141P	probably damaging	Het
Src	A	T	2: 157,304,958 (GRCm39)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Stc2	A	G	11: 31,315,326 (GRCm39)		probably null	Het
Taf6l	T	C	19: 8,755,572 (GRCm39)	D261G	probably damaging	Het
Tal1	T	G	4: 114,921,919 (GRCm39)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,124 (GRCm39)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,396,655 (GRCm39)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm39)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,946,380 (GRCm39)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,556,639 (GRCm39)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Urb1	T	C	16: 90,585,034 (GRCm39)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,949,570 (GRCm39)	T426S	probably benign	Het
Yipf4	T	C	17: 74,806,089 (GRCm39)	Y243H	probably benign	Het
Zfp574	T	A	7: 24,780,738 (GRCm39)	C587S	probably damaging	Het
Zfp93	C	A	7: 23,975,093 (GRCm39)	H359Q	probably damaging	Het
Znfx1	T	C	2: 166,892,236 (GRCm39)	E660G	probably damaging	Het

Other mutations in Sec14l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02581:Sec14l4	APN	11	3,989,941 (GRCm39)	missense	possibly damaging	0.49
R0308:Sec14l4	UTSW	11	3,991,726 (GRCm39)	splice site	probably benign
R0538:Sec14l4	UTSW	11	3,990,018 (GRCm39)	missense	probably benign
R2327:Sec14l4	UTSW	11	3,990,041 (GRCm39)	missense	probably benign	0.01
R2409:Sec14l4	UTSW	11	3,990,048 (GRCm39)	missense	probably benign	0.18
R2473:Sec14l4	UTSW	11	3,993,359 (GRCm39)	missense	probably benign	0.28
R4684:Sec14l4	UTSW	11	3,985,200 (GRCm39)	critical splice donor site	probably null
R5530:Sec14l4	UTSW	11	3,996,342 (GRCm39)	makesense	probably null
R5977:Sec14l4	UTSW	11	3,990,055 (GRCm39)	missense	possibly damaging	0.89
R6057:Sec14l4	UTSW	11	3,985,142 (GRCm39)	missense	possibly damaging	0.95
R7664:Sec14l4	UTSW	11	3,994,178 (GRCm39)	nonsense	probably null
R8465:Sec14l4	UTSW	11	3,993,948 (GRCm39)	missense	probably damaging	1.00
R9228:Sec14l4	UTSW	11	3,989,977 (GRCm39)	missense	probably damaging	1.00
R9753:Sec14l4	UTSW	11	3,989,982 (GRCm39)	missense	probably benign	0.13
X0026:Sec14l4	UTSW	11	3,990,100 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCAGAATCCAGACCTGAG -3'
(R):5'- TTGCTCCCCTGAGAGTCTACAC -3'

Sequencing Primer
(F):5'- AGACCTGAGCACCTCCTG -3'
(R):5'- ACACACATGAGCTTGCTTTCTGG -3'

Posted On

2015-09-24