Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Sec14l3'

55127

Institutional Source

Beutler Lab

Gene Symbol

Sec14l3

Ensembl Gene

ENSMUSG00000054986

Gene Name

SEC14-like lipid binding 3

Synonyms

1110069O07Rik

MMRRC Submission

038786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4014841-4027736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4024814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 254 (K254N)

Ref Sequence

ENSEMBL: ENSMUSP00000065084 (fasta)

Gene Model

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

AlphaFold

Q5SQ27

Predicted Effect

probably damaging
Transcript: ENSMUST00000068322
AA Change: K254N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: K254N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126396

Meta Mutation Damage Score

0.1799

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,352,631 (GRCm39)		probably null	Het
Anxa11	T	C	14: 25,874,652 (GRCm39)	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,225,871 (GRCm39)	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,880,584 (GRCm39)		probably benign	Het
Btn2a2	T	A	13: 23,670,580 (GRCm39)	H51L	probably benign	Het
Casz1	T	C	4: 149,028,851 (GRCm39)	S1099P	probably benign	Het
Cnot4	A	G	6: 35,028,438 (GRCm39)	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,112,191 (GRCm39)		probably benign	Het
Cobl	T	C	11: 12,204,699 (GRCm39)	T586A	probably benign	Het
Crocc	T	C	4: 140,747,224 (GRCm39)	K1528R	probably benign	Het
Crocc	A	G	4: 140,744,382 (GRCm39)	L1838P	probably benign	Het
Dact2	A	G	17: 14,417,303 (GRCm39)	V299A	probably benign	Het
Dapk1	C	A	13: 60,909,198 (GRCm39)	N1270K	probably benign	Het
Ddx41	T	C	13: 55,680,819 (GRCm39)	Y375C	probably damaging	Het
Dock5	T	A	14: 68,022,383 (GRCm39)		probably null	Het
Dyrk4	T	G	6: 126,863,612 (GRCm39)		probably null	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam210b	A	G	2: 172,187,773 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,819,712 (GRCm39)	I229T	probably benign	Het
Fbxo39	A	G	11: 72,207,747 (GRCm39)	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,670,496 (GRCm39)	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,701,032 (GRCm39)	L261Q	probably damaging	Het
Gm5800	A	C	14: 51,953,461 (GRCm39)	N51K	probably benign	Het
Gm6899	A	G	11: 26,543,768 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,035 (GRCm39)	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351 (GRCm39)	V1095M	probably damaging	Het
Grip2	T	C	6: 91,773,178 (GRCm39)		probably benign	Het
Hacd4	A	G	4: 88,355,757 (GRCm39)	F43L	probably damaging	Het
Hif1a	T	G	12: 73,989,049 (GRCm39)	S645R	probably benign	Het
Hipk3	A	G	2: 104,263,982 (GRCm39)	S839P	possibly damaging	Het
Idi2l	C	A	13: 8,990,802 (GRCm39)		probably benign	Het
Il16	A	T	7: 83,327,183 (GRCm39)		probably benign	Het
Il3ra	T	A	14: 14,351,166 (GRCm38)		probably null	Het
Il5ra	A	G	6: 106,721,296 (GRCm39)	M1T	probably null	Het
Klra2	G	A	6: 131,197,148 (GRCm39)	R251C	probably benign	Het
Lamc2	C	T	1: 153,009,367 (GRCm39)	V813M	probably benign	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Map3k6	C	T	4: 132,972,863 (GRCm39)	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,529,609 (GRCm39)	E140G	probably benign	Het
Med1	T	C	11: 98,060,264 (GRCm39)	M222V	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Muc19	A	T	15: 91,784,696 (GRCm39)		noncoding transcript	Het
Nr1h2	A	G	7: 44,201,684 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,706,592 (GRCm39)		probably null	Het
Or2w6	C	A	13: 21,843,316 (GRCm39)	R59L	probably damaging	Het
Or56a42-ps1	A	G	7: 104,777,425 (GRCm39)	V73A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,123 (GRCm39)	F250I	probably damaging	Het
P4hb	G	A	11: 120,459,070 (GRCm39)	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,534,202 (GRCm39)	V101A	probably benign	Het
Pou4f2	A	G	8: 79,161,869 (GRCm39)	S245P	probably benign	Het
Pramel26	G	T	4: 143,539,222 (GRCm39)	N90K	probably damaging	Het
Rnpep	A	G	1: 135,200,157 (GRCm39)	V266A	probably damaging	Het
Scly	G	A	1: 91,237,555 (GRCm39)	G206R	probably damaging	Het
Sgpp1	A	T	12: 75,781,874 (GRCm39)	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,001,190 (GRCm39)	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,843,249 (GRCm39)	F377L	probably benign	Het
Slc44a3	T	C	3: 121,253,719 (GRCm39)	I625V	probably benign	Het
Slc47a2	A	T	11: 61,200,802 (GRCm39)	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 82,926,479 (GRCm39)		noncoding transcript	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Sort1	A	G	3: 108,246,226 (GRCm39)	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,195,897 (GRCm39)	M1I	probably null	Het
Sycp2	A	C	2: 177,998,373 (GRCm39)	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,502,775 (GRCm39)	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,564 (GRCm39)	C303*	probably null	Het
Vmn2r23	A	G	6: 123,706,680 (GRCm39)	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,240,670 (GRCm39)	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399 (GRCm39)	N1882D	probably benign	Het
Zfp91	T	C	19: 12,747,459 (GRCm39)	I555V	possibly 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
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
R9671:Sec14l3	UTSW	11	4,025,486 (GRCm39)	missense	probably damaging	0.98
RF011:Sec14l3	UTSW	11	4,017,963 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TAACTCTCTCGACAGAGCTGCTCC -3'
(R):5'- CTGGACACACCTAGTTCAACACCTG -3'

Sequencing Primer
(F):5'- CCCATAGCAACTGGATGCTAGG -3'
(R):5'- AGTTCAACACCTGCTCTCTATAC -3'

Posted On

2013-07-11