Mutagenetix > Incidental Mutation

Incidental Mutation 'R7845:Sec14l3'

606571

Institutional Source

Beutler Lab

Gene Symbol

Sec14l3

Ensembl Gene

ENSMUSG00000054986

Gene Name

SEC14-like lipid binding 3

Synonyms

1110069O07Rik

MMRRC Submission

045899-MU

Accession Numbers

Essential gene?

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

Stock #

R7845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4014841-4027736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4017972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 84 (M84K)

Ref Sequence

ENSEMBL: ENSMUSP00000065084 (fasta)

Gene Model

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

AlphaFold

Q5SQ27

Predicted Effect

probably benign
Transcript: ENSMUST00000068322
AA Change: M84K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: M84K

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (43/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,229 (GRCm39)	H483R	probably damaging	Het
Acot2	G	T	12: 84,039,762 (GRCm39)	G424*	probably null	Het
Adat2	G	T	10: 13,428,741 (GRCm39)		probably benign	Het
Arhgef18	T	C	8: 3,436,959 (GRCm39)	Y250H	probably damaging	Het
Bcl2l2	A	G	14: 55,122,308 (GRCm39)	Y157C	unknown	Het
Bglap2	T	A	3: 88,286,001 (GRCm39)		probably benign	Het
Ccdc14	T	C	16: 34,535,734 (GRCm39)	L495P	probably damaging	Het
Cobl	T	C	11: 12,315,139 (GRCm39)	D275G	probably benign	Het
Cpne2	A	G	8: 95,277,832 (GRCm39)	N72S	probably benign	Het
D7Ertd443e	A	G	7: 133,871,977 (GRCm39)	F628S	probably damaging	Het
Dars2	A	T	1: 160,869,318 (GRCm39)	S644T	probably benign	Het
Depdc5	A	G	5: 33,061,259 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,659,080 (GRCm39)	S860G	probably damaging	Het
Dnajc21	T	G	15: 10,447,227 (GRCm39)	H507P	probably damaging	Het
Eif2ak2	G	T	17: 79,171,327 (GRCm39)	Q359K	probably damaging	Het
Epha8	T	C	4: 136,663,712 (GRCm39)	E448G	probably benign	Het
Exoc3l	G	C	8: 106,016,782 (GRCm39)	S677R	probably damaging	Het
Fads1	T	A	19: 10,171,405 (GRCm39)	H345Q	probably damaging	Het
Fam118a	T	A	15: 84,930,052 (GRCm39)	D93E	possibly damaging	Het
Fam135a	T	C	1: 24,068,738 (GRCm39)	I710M	probably benign	Het
Fbxw14	T	A	9: 109,116,671 (GRCm39)	I13F	probably damaging	Het
Gemin6	A	G	17: 80,533,090 (GRCm39)	S8G	probably benign	Het
Ints2	A	T	11: 86,129,089 (GRCm39)	M498K	possibly damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mast1	C	A	8: 85,651,954 (GRCm39)	E343*	probably null	Het
Micu1	T	C	10: 59,675,607 (GRCm39)		probably null	Het
Mis18bp1	A	G	12: 65,196,102 (GRCm39)	I554T	probably benign	Het
Mrps28	T	A	3: 8,988,775 (GRCm39)	N28Y	possibly damaging	Het
Mtpap	T	A	18: 4,387,134 (GRCm39)	S395T	possibly damaging	Het
Muc16	A	T	9: 18,552,069 (GRCm39)	H4741Q	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	T	C	4: 118,584,158 (GRCm39)	M238T	probably benign	Het
Or4k44	C	A	2: 111,368,512 (GRCm39)	G41*	probably null	Het
Or51f23	G	A	7: 102,453,492 (GRCm39)	R269Q	not run	Het
Ptx4	T	C	17: 25,343,928 (GRCm39)	Y393H	possibly damaging	Het
Ranbp2	G	A	10: 58,282,844 (GRCm39)	V15M	probably damaging	Het
Rbp3	G	T	14: 33,678,421 (GRCm39)	A790S	probably benign	Het
Rfx6	T	A	10: 51,554,122 (GRCm39)	S73T	probably benign	Het
Sec23b	T	A	2: 144,401,316 (GRCm39)	V59E	possibly damaging	Het
Slc2a1	T	C	4: 118,993,125 (GRCm39)	V425A	possibly damaging	Het
Stab2	A	T	10: 86,832,758 (GRCm39)	V89D	probably benign	Het
Stra8	A	G	6: 34,907,899 (GRCm39)	D117G	probably benign	Het
Syt17	A	T	7: 118,009,194 (GRCm39)	I338N	possibly damaging	Het
Tas2r136	T	A	6: 132,754,833 (GRCm39)	Y98F	probably benign	Het
Tsks	C	A	7: 44,603,168 (GRCm39)		probably null	Het
Wdr62	A	G	7: 29,964,667 (GRCm39)	V359A	possibly damaging	Het
Xrcc6	T	C	15: 81,900,678 (GRCm39)		probably null	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
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'- GACCAATATGCCCTGAAGCCTG -3'
(R):5'- TCTGTCTGCAGGTCACACTC -3'

Sequencing Primer
(F):5'- TGTATTCACAGCTGTAAACAAGGCC -3'
(R):5'- TCATGCAGGATACGTTCACAGTC -3'

Posted On

2019-12-20