Mutagenetix > Incidental Mutation

Incidental Mutation 'R2327:Sec14l4'

245717

Institutional Source

Beutler Lab

Gene Symbol

Sec14l4

Ensembl Gene

ENSMUSG00000019368

Gene Name

SEC14-like lipid binding 4

Synonyms

MMRRC Submission

040318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2327 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3981462-3998024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3990041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 113 (M113I)

Ref Sequence

ENSEMBL: ENSMUSP00000019512 (fasta)

Gene Model

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

AlphaFold

Q8R0F9

Predicted Effect

probably benign
Transcript: ENSMUST00000019512
AA Change: M113I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000019512
Gene: ENSMUSG00000019368
AA Change: M113I

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.7%

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
4930578I06Rik	A	T	14: 64,208,569 (GRCm39)		probably null	Het
Agbl4	T	G	4: 111,383,798 (GRCm39)	S218A	probably benign	Het
Apol11b	T	C	15: 77,522,153 (GRCm39)	E48G	probably damaging	Het
Atp4a	T	A	7: 30,419,666 (GRCm39)	N676K	probably benign	Het
Capn5	T	A	7: 97,775,574 (GRCm39)	S456C	probably benign	Het
Ccar1	T	C	10: 62,600,161 (GRCm39)	Y590C	probably damaging	Het
Ccdc188	G	T	16: 18,037,070 (GRCm39)	G283W	probably damaging	Het
Cd69	A	G	6: 129,248,351 (GRCm39)	V45A	probably damaging	Het
Col3a1	G	T	1: 45,377,771 (GRCm39)		probably benign	Het
Cyb561a3	A	T	19: 10,564,166 (GRCm39)	T169S	probably benign	Het
Cyp2c39	A	T	19: 39,527,397 (GRCm39)	I248L	probably benign	Het
Cyp2j13	T	C	4: 95,947,344 (GRCm39)	T236A	possibly damaging	Het
Efs	A	G	14: 55,154,961 (GRCm39)	V426A	probably benign	Het
Eme2	A	G	17: 25,113,157 (GRCm39)	L136S	probably damaging	Het
Fastkd1	T	A	2: 69,535,872 (GRCm39)	K312*	probably null	Het
Fbxl12	A	G	9: 20,553,530 (GRCm39)	L19P	probably damaging	Het
Flg2	T	A	3: 93,110,913 (GRCm39)	Y980*	probably null	Het
Fscn2	T	A	11: 120,257,527 (GRCm39)	I296N	probably damaging	Het
Gabrg3	A	G	7: 56,384,835 (GRCm39)	V242A	probably benign	Het
Galk2	A	G	2: 125,817,315 (GRCm39)	H368R	probably damaging	Het
Gm12695	C	T	4: 96,657,893 (GRCm39)	S92N	probably benign	Het
Gpalpp1	A	T	14: 76,336,031 (GRCm39)	S196T	probably benign	Het
Gpld1	A	T	13: 25,168,804 (GRCm39)	M773L	probably benign	Het
Haus8	A	G	8: 71,708,289 (GRCm39)		probably null	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Inpp4a	A	G	1: 37,405,247 (GRCm39)	T92A	probably damaging	Het
Irgm2	A	G	11: 58,111,218 (GRCm39)	D303G	probably damaging	Het
Kpna2rt	C	A	17: 90,217,697 (GRCm39)	R16S	probably benign	Het
Krtap5-2	T	G	7: 141,728,748 (GRCm39)	S311R	unknown	Het
Krtdap	T	A	7: 30,489,185 (GRCm39)		probably null	Het
Lce1g	G	T	3: 92,658,140 (GRCm39)	S56Y	unknown	Het
Lrrn1	G	A	6: 107,545,794 (GRCm39)	V531I	probably benign	Het
Mctp2	T	C	7: 71,861,358 (GRCm39)	E429G	probably damaging	Het
Mrgpra2b	T	G	7: 47,113,793 (GRCm39)	D287A	probably damaging	Het
Mterf3	T	C	13: 67,076,258 (GRCm39)	T150A	probably damaging	Het
Mtus2	A	G	5: 148,014,725 (GRCm39)	N506S	probably benign	Het
Myh15	G	T	16: 48,963,313 (GRCm39)	V1085L	probably benign	Het
Myo9a	A	G	9: 59,687,048 (GRCm39)	N51S	probably benign	Het
Nlrc3	A	T	16: 3,771,304 (GRCm39)	L196Q	probably damaging	Het
Nlrp9c	T	A	7: 26,074,747 (GRCm39)	N816I	probably damaging	Het
Nsun2	T	C	13: 69,767,700 (GRCm39)	V218A	probably benign	Het
Nt5dc1	T	C	10: 34,189,673 (GRCm39)	E339G	possibly damaging	Het
Or10ak14	C	T	4: 118,611,331 (GRCm39)	V135I	probably benign	Het
Or51b6b	A	G	7: 103,309,779 (GRCm39)	V226A	probably damaging	Het
Or8j3c	A	T	2: 86,253,165 (GRCm39)	L285*	probably null	Het
Pik3ap1	A	G	19: 41,284,828 (GRCm39)	I619T	probably damaging	Het
Plk1	A	G	7: 121,759,118 (GRCm39)	D118G	probably benign	Het
Ppat	T	C	5: 77,070,314 (GRCm39)	D168G	possibly damaging	Het
Preb	T	C	5: 31,115,849 (GRCm39)	E198G	probably damaging	Het
Psg21	T	C	7: 18,386,378 (GRCm39)	T203A	possibly damaging	Het
Rbm17	A	G	2: 11,602,942 (GRCm39)	V54A	probably damaging	Het
Rgma	T	A	7: 73,067,574 (GRCm39)	D276E	probably damaging	Het
Ric8a	T	C	7: 140,439,471 (GRCm39)	L77P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scarf1	A	C	11: 75,416,854 (GRCm39)	E765D	probably damaging	Het
Scart1	A	T	7: 139,803,890 (GRCm39)	N363Y	possibly damaging	Het
Senp1	C	T	15: 97,980,165 (GRCm39)	C60Y	probably damaging	Het
Slc22a21	T	A	11: 53,842,130 (GRCm39)	K549N	probably benign	Het
Slc39a10	T	C	1: 46,875,156 (GRCm39)	S49G	probably damaging	Het
Spata13	T	C	14: 60,947,004 (GRCm39)	M684T	probably damaging	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Stag1	A	G	9: 100,668,666 (GRCm39)	Y198C	possibly damaging	Het
Tgfbr1	T	A	4: 47,402,833 (GRCm39)	V210E	probably damaging	Het
Tnc	C	T	4: 63,893,475 (GRCm39)	E1604K	possibly damaging	Het
Tspan31	T	C	10: 126,904,365 (GRCm39)	D143G	probably benign	Het
Tspan5	T	A	3: 138,603,903 (GRCm39)	Y131*	probably null	Het
Ttc21a	A	G	9: 119,795,189 (GRCm39)	D1070G	probably damaging	Het
Vmn2r26	C	T	6: 124,016,708 (GRCm39)	P391S	probably benign	Het
Vmn2r72	A	G	7: 85,387,464 (GRCm39)	I700T	probably damaging	Het
Vps13c	A	C	9: 67,821,102 (GRCm39)	N1204T	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	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
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
R4581:Sec14l4	UTSW	11	3,993,375 (GRCm39)	splice site	probably null
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'- ATCAGCAGAACCTGGACCAG -3'
(R):5'- AGAGAGACAAGGTGCTGATCTTTG -3'

Sequencing Primer
(F):5'- AGGTGAGCCCCTTGCAGTATC -3'
(R):5'- GTGGTACCTAGTATCCCATTTGG -3'

Posted On

2014-10-30