Mutagenetix > Incidental Mutation

Incidental Mutation 'R9671:Sec14l3'

728056

Institutional Source

Beutler Lab

Gene Symbol

Sec14l3

Ensembl Gene

ENSMUSG00000054986

Gene Name

SEC14-like lipid binding 3

Synonyms

1110069O07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R9671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4014841-4027736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4025486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 337 (V337M)

Ref Sequence

ENSEMBL: ENSMUSP00000065084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068322]

AlphaFold

Q5SQ27

Predicted Effect

probably damaging
Transcript: ENSMUST00000068322
AA Change: V337M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: V337M

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	34	59	2.71e-7	SMART
SEC14	76	247	1.18e-66	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,948 (GRCm39)	L228*	probably null	Het
Acsf2	T	C	11: 94,460,802 (GRCm39)	D368G	probably benign	Het
Adat2	T	A	10: 13,438,452 (GRCm39)	N177K	probably damaging	Het
Adgrf5	G	T	17: 43,760,795 (GRCm39)	R830M	probably damaging	Het
Apoh	G	A	11: 108,286,792 (GRCm39)	W72*	probably null	Het
Bcl2l12	G	T	7: 44,642,301 (GRCm39)	P195Q	probably damaging	Het
Cacna1b	T	C	2: 24,596,282 (GRCm39)	M470V	probably benign	Het
Ccdc188	A	T	16: 18,036,268 (GRCm39)	R79*	probably null	Het
Cd34	T	A	1: 194,641,501 (GRCm39)	M309K	probably damaging	Het
Clec4a2	A	T	6: 123,101,942 (GRCm39)	K32N	possibly damaging	Het
Csmd3	G	T	15: 47,845,299 (GRCm39)	P88H		Het
Def6	A	G	17: 28,438,755 (GRCm39)	S154G	probably benign	Het
Dot1l	T	C	10: 80,620,613 (GRCm39)	L530P	probably damaging	Het
Fam13a	A	G	6: 58,951,014 (GRCm39)		probably null	Het
Fat3	G	A	9: 16,286,871 (GRCm39)	A884V	possibly damaging	Het
Frem3	C	A	8: 81,339,134 (GRCm39)	H476N	probably benign	Het
Gm3404	T	C	5: 146,463,031 (GRCm39)	V71A	probably benign	Het
Hnf4g	T	G	3: 3,703,273 (GRCm39)	S53R	probably benign	Het
Ighv13-2	T	C	12: 114,321,796 (GRCm39)	N15D	probably benign	Het
Jak1	T	C	4: 101,034,926 (GRCm39)	K339E	possibly damaging	Het
Klhl35	C	G	7: 99,117,702 (GRCm39)	P82R	probably benign	Het
Klhl40	T	A	9: 121,607,743 (GRCm39)	V301E	probably benign	Het
Knl1	A	T	2: 118,901,089 (GRCm39)	N930I	probably damaging	Het
Ltbp1	A	G	17: 75,603,217 (GRCm39)		probably null	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Myo3b	A	G	2: 70,086,908 (GRCm39)	H852R	probably damaging	Het
Or51a6	A	T	7: 102,604,633 (GRCm39)	H58Q	probably benign	Het
Pkd2	A	G	5: 104,637,256 (GRCm39)	D623G	probably damaging	Het
Pramel14	A	C	4: 143,719,687 (GRCm39)	I226S	probably benign	Het
Rfxank	T	C	8: 70,588,198 (GRCm39)	T118A	probably benign	Het
Rxrb	T	A	17: 34,252,020 (GRCm39)		probably null	Het
Sema3e	A	G	5: 14,212,217 (GRCm39)	T98A	probably benign	Het
Ska1	A	T	18: 74,333,010 (GRCm39)	M136K	probably damaging	Het
Slc19a3	T	C	1: 83,000,297 (GRCm39)	D240G	probably benign	Het
Snph	T	C	2: 151,436,331 (GRCm39)	Y199C	probably damaging	Het
Sorl1	A	T	9: 41,943,077 (GRCm39)	I933N	possibly damaging	Het
Spag16	C	A	1: 69,883,495 (GRCm39)	H75N	probably benign	Het
Spice1	C	T	16: 44,199,671 (GRCm39)	R708C	probably benign	Het
Tet3	C	A	6: 83,381,136 (GRCm39)	S344I	possibly damaging	Het
Trav5-4	A	G	14: 53,941,816 (GRCm39)	E63G	possibly damaging	Het
Trp73	G	A	4: 154,148,403 (GRCm39)	P337L	probably benign	Het
Ttn	A	G	2: 76,778,359 (GRCm39)	F1343L	unknown	Het
Vipas39	T	C	12: 87,292,985 (GRCm39)	H320R	probably benign	Het
Vmn2r4	T	C	3: 64,317,271 (GRCm39)	I156V	probably benign	Het
Wdr81	T	C	11: 75,345,189 (GRCm39)	D26G	probably damaging	Het
Zscan4d	A	T	7: 10,898,945 (GRCm39)	F111I	probably damaging	Het

Other mutations in Sec14l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Sec14l3	APN	11	4,026,238 (GRCm39)	splice site	probably benign
IGL01382:Sec14l3	APN	11	4,018,104 (GRCm39)	missense	probably damaging	0.98
IGL02304:Sec14l3	APN	11	4,024,768 (GRCm39)	missense	probably damaging	1.00
IGL02565:Sec14l3	APN	11	4,026,237 (GRCm39)	splice site	probably benign
IGL02836:Sec14l3	APN	11	4,020,084 (GRCm39)	missense	probably benign	0.02
R0183:Sec14l3	UTSW	11	4,025,547 (GRCm39)	missense	probably benign	0.03
R0597:Sec14l3	UTSW	11	4,024,814 (GRCm39)	missense	probably damaging	1.00
R1425:Sec14l3	UTSW	11	4,016,487 (GRCm39)	missense	probably damaging	1.00
R1834:Sec14l3	UTSW	11	4,016,510 (GRCm39)	splice site	probably benign
R2090:Sec14l3	UTSW	11	4,025,481 (GRCm39)	missense	probably benign	0.00
R3839:Sec14l3	UTSW	11	4,021,544 (GRCm39)	splice site	probably null
R4424:Sec14l3	UTSW	11	4,016,210 (GRCm39)	missense	probably damaging	1.00
R4948:Sec14l3	UTSW	11	4,018,101 (GRCm39)	missense	possibly damaging	0.75
R5124:Sec14l3	UTSW	11	4,025,209 (GRCm39)	missense	possibly damaging	0.67
R5588:Sec14l3	UTSW	11	4,016,138 (GRCm39)	missense	probably damaging	1.00
R5635:Sec14l3	UTSW	11	4,021,484 (GRCm39)	missense	probably damaging	1.00
R6185:Sec14l3	UTSW	11	4,025,244 (GRCm39)	missense	probably damaging	1.00
R6192:Sec14l3	UTSW	11	4,025,566 (GRCm39)	splice site	probably null
R6699:Sec14l3	UTSW	11	4,025,193 (GRCm39)	missense	possibly damaging	0.78
R7002:Sec14l3	UTSW	11	4,025,263 (GRCm39)	missense	possibly damaging	0.87
R7351:Sec14l3	UTSW	11	4,024,785 (GRCm39)	missense	probably benign	0.00
R7357:Sec14l3	UTSW	11	4,020,127 (GRCm39)	missense	probably benign	0.03
R7845:Sec14l3	UTSW	11	4,017,972 (GRCm39)	missense	probably benign	0.38
R7890:Sec14l3	UTSW	11	4,024,795 (GRCm39)	missense	probably damaging	0.96
R8108:Sec14l3	UTSW	11	4,016,198 (GRCm39)	missense	probably damaging	1.00
R9110:Sec14l3	UTSW	11	4,015,007 (GRCm39)	critical splice donor site	probably null
R9468:Sec14l3	UTSW	11	4,025,200 (GRCm39)	missense	probably damaging	1.00
R9569:Sec14l3	UTSW	11	4,026,324 (GRCm39)	missense	probably damaging	1.00
RF011:Sec14l3	UTSW	11	4,017,963 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGGTAGGAACAAATGGCCCC -3'
(R):5'- TGGCACACAGTAACTGTTCATG -3'

Sequencing Primer
(F):5'- GTAGGAACAAATGGCCCCTCCTC -3'
(R):5'- ACTTGAGAATGAGTGAGGGTTTTAAC -3'

Posted On

2022-10-06