Mutagenetix > Incidental Mutation

Incidental Mutation 'R5588:Sec14l3'

501201

Institutional Source

Beutler Lab

Gene Symbol

Sec14l3

Ensembl Gene

ENSMUSG00000054986

Gene Name

SEC14-like lipid binding 3

Synonyms

1110069O07Rik

MMRRC Submission

043268-MU

Accession Numbers

Essential gene?

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

Stock #

R5588 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4014841-4027736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4016138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 19 (F19S)

Ref Sequence

ENSEMBL: ENSMUSP00000065084 (fasta)

Gene Model

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

AlphaFold

Q5SQ27

Predicted Effect

probably damaging
Transcript: ENSMUST00000068322
AA Change: F19S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: F19S

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: ENSMUST00000129330

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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. 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,949,417 (GRCm39)	Q1105K	possibly damaging	Het
Afg3l2	A	T	18: 67,573,277 (GRCm39)	V175D	possibly damaging	Het
Aldh1a2	G	A	9: 71,190,732 (GRCm39)	R325H	probably damaging	Het
Arhgef18	T	A	8: 3,438,878 (GRCm39)		probably benign	Het
Atp8a1	A	G	5: 67,972,027 (GRCm39)	L43P	probably damaging	Het
Bdh1	T	C	16: 31,256,937 (GRCm39)		probably null	Het
Ccdc85c	T	C	12: 108,177,793 (GRCm39)	Y320C	probably damaging	Het
Cobl	A	T	11: 12,293,886 (GRCm39)	L290*	probably null	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Dhx34	T	C	7: 15,932,825 (GRCm39)	H1038R	probably damaging	Het
Eea1	T	C	10: 95,859,772 (GRCm39)	V686A	probably benign	Het
Eif2b4	A	T	5: 31,349,517 (GRCm39)	C101*	probably null	Het
Eif4a3	A	C	11: 119,186,952 (GRCm39)	S84A	probably benign	Het
Elfn2	T	C	15: 78,558,076 (GRCm39)	D157G	probably damaging	Het
Fat2	T	A	11: 55,173,103 (GRCm39)	I2537F	probably damaging	Het
Fbxo38	A	G	18: 62,659,248 (GRCm39)	F350L	probably damaging	Het
Fgd3	A	T	13: 49,440,786 (GRCm39)	L215Q	probably damaging	Het
Fhdc1	A	G	3: 84,372,783 (GRCm39)	V73A	possibly damaging	Het
Gapvd1	T	A	2: 34,599,166 (GRCm39)	T690S	probably damaging	Het
Gask1a	C	T	9: 121,794,247 (GRCm39)	Q134*	probably null	Het
Gm14418	A	T	2: 177,079,065 (GRCm39)	I310K	probably benign	Het
Gm5141	A	T	13: 62,921,584 (GRCm39)	N528K	probably benign	Het
Gsap	A	C	5: 21,456,147 (GRCm39)	E417A	probably damaging	Het
Kcnab1	A	C	3: 65,283,976 (GRCm39)	D398A	possibly damaging	Het
Kif5b	T	G	18: 6,225,787 (GRCm39)	N160T	probably benign	Het
Lilrb4b	G	A	10: 51,357,422 (GRCm39)	R86Q	probably benign	Het
Lmo7	T	C	14: 102,134,026 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,859,321 (GRCm39)	S219P	possibly damaging	Het
Ncapg2	T	C	12: 116,376,697 (GRCm39)	I95T	possibly damaging	Het
Nedd9	A	T	13: 41,469,437 (GRCm39)	I572N	possibly damaging	Het
Nup155	G	A	15: 8,148,737 (GRCm39)		probably null	Het
Olfml2a	T	C	2: 38,850,047 (GRCm39)	S588P	probably damaging	Het
Or4a68	T	C	2: 89,269,760 (GRCm39)	R288G	probably damaging	Het
Or4c12	T	A	2: 89,774,136 (GRCm39)	T108S	probably benign	Het
Or6c1	T	G	10: 129,517,705 (GRCm39)	N301T	possibly damaging	Het
Parva	C	A	7: 112,159,269 (GRCm39)	N142K	possibly damaging	Het
Pclo	T	A	5: 14,838,412 (GRCm39)	S4678R	unknown	Het
Pcnt	T	C	10: 76,278,445 (GRCm39)	D3G	possibly damaging	Het
Pdzd2	A	C	15: 12,374,367 (GRCm39)	S1923A	possibly damaging	Het
Per1	G	A	11: 68,998,453 (GRCm39)	G1055D	probably damaging	Het
Phf8-ps	G	A	17: 33,285,249 (GRCm39)	Q518*	probably null	Het
Plb1	G	A	5: 32,487,293 (GRCm39)		probably null	Het
Ppp1r14a	C	T	7: 28,992,709 (GRCm39)	P137L	probably damaging	Het
Rfx2	A	T	17: 57,086,890 (GRCm39)	S612T	possibly damaging	Het
Rtel1	T	C	2: 180,993,893 (GRCm39)	F642L	probably benign	Het
Skint8	A	T	4: 111,794,089 (GRCm39)	M160L	probably benign	Het
Slc19a3	G	T	1: 83,000,776 (GRCm39)	Y80*	probably null	Het
Slc37a1	T	A	17: 31,565,431 (GRCm39)	W489R	probably damaging	Het
Smc4	A	G	3: 68,933,190 (GRCm39)	I604V	probably benign	Het
Srprb	G	T	9: 103,076,048 (GRCm39)	Y796*	probably null	Het
Tdrd7	T	A	4: 45,992,225 (GRCm39)	S220T	probably benign	Het
Tex15	T	C	8: 34,067,215 (GRCm39)	F2215S	probably damaging	Het
Ticrr	C	T	7: 79,328,853 (GRCm39)	A664V	probably damaging	Het
Tnc	T	G	4: 63,924,659 (GRCm39)	D1013A	possibly damaging	Het
Tpte	T	A	8: 22,774,983 (GRCm39)	Y18N	possibly damaging	Het
Ubqlnl	T	A	7: 103,798,339 (GRCm39)	Q386L	probably damaging	Het
Vmn1r194	T	C	13: 22,428,512 (GRCm39)	V43A	possibly damaging	Het
Vmn2r130	A	T	17: 23,282,803 (GRCm39)	Q161L	probably benign	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zfhx4	T	G	3: 5,468,198 (GRCm39)	D2785E	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
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'- TGACTTTGCTCACACACCAT -3'
(R):5'- TGAGAGCAATGGAGGACCCT -3'

Sequencing Primer
(F):5'- GCTCACACACCATTTTCCAC -3'
(R):5'- TGCAGTCAGATTCTGAGAGTCAC -3'

Posted On

2017-12-01