Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Sec14l3'

721850

Institutional Source

Beutler Lab

Gene Symbol

Sec14l3

Ensembl Gene

ENSMUSG00000054986

Gene Name

SEC14-like lipid binding 3

Synonyms

1110069O07Rik

MMRRC Submission

068966-MU

Accession Numbers

Essential gene?

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

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4014841-4027736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4026324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 388 (D388V)

Ref Sequence

ENSEMBL: ENSMUSP00000065084 (fasta)

Gene Model

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

AlphaFold

Q5SQ27

Predicted Effect

probably damaging
Transcript: ENSMUST00000068322
AA Change: D388V

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

SMART Domains

Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: D388V

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

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,503,763 (GRCm39)	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,256,701 (GRCm39)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,393,138 (GRCm39)	M553T	possibly damaging	Het
Apeh	C	T	9: 107,971,609 (GRCm39)	V13M	unknown	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,601,933 (GRCm39)	T177I	probably damaging	Het
Bltp1	T	C	3: 37,066,770 (GRCm39)	M211T		Het
Bub1b	T	C	2: 118,468,884 (GRCm39)	I883T	probably damaging	Het
C9	T	C	15: 6,489,062 (GRCm39)	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,485 (GRCm39)	I64N	probably benign	Het
Cd180	A	T	13: 102,842,486 (GRCm39)	I511F	possibly damaging	Het
Cic	T	C	7: 24,972,120 (GRCm39)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,513,075 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,759,979 (GRCm39)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,387,852 (GRCm39)	E422D	probably benign	Het
Depdc5	A	T	5: 33,025,321 (GRCm39)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,236,829 (GRCm39)	F40S	unknown	Het
Duox1	T	C	2: 122,148,971 (GRCm39)	V82A	probably benign	Het
Dus2	T	C	8: 106,771,507 (GRCm39)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,251,316 (GRCm39)	S326N	probably benign	Het
Fat3	A	C	9: 15,830,495 (GRCm39)	L153R		Het
Gpx8	C	T	13: 113,182,125 (GRCm39)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 89,001,948 (GRCm39)	D268G	probably benign	Het
Hc	T	C	2: 34,926,359 (GRCm39)	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,879,878 (GRCm39)	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,314,209 (GRCm39)	D77A		Het
Igfbp1	A	G	11: 7,147,881 (GRCm39)		probably benign	Het
Kdm3a	T	C	6: 71,584,434 (GRCm39)	D559G	probably benign	Het
Kif2a	A	G	13: 107,105,246 (GRCm39)	I565T	probably benign	Het
Krt1c	T	C	15: 101,724,924 (GRCm39)	T229A	probably damaging	Het
Lcmt2	G	A	2: 120,970,522 (GRCm39)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,217,599 (GRCm39)	M241T	probably benign	Het
Mup15	T	C	4: 61,357,875 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,811,629 (GRCm39)	V1912A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Net1	A	G	13: 3,938,518 (GRCm39)	F123S	probably benign	Het
Or1j8	T	C	2: 36,191,946 (GRCm39)	Y132H	probably damaging	Het
Or52n2	C	T	7: 104,542,525 (GRCm39)	M103I	possibly damaging	Het
Or5h17	A	G	16: 58,820,228 (GRCm39)	Y60C	probably damaging	Het
Pcdhb13	T	C	18: 37,576,153 (GRCm39)	F177S	probably damaging	Het
Pclo	T	C	5: 14,907,065 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,039 (GRCm39)	T528A	probably benign	Het
Pik3c2a	C	T	7: 115,957,939 (GRCm39)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Psd	A	T	19: 46,308,717 (GRCm39)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,703,264 (GRCm39)	T220S	probably benign	Het
Scn2a	A	G	2: 65,560,622 (GRCm39)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,513,605 (GRCm39)	Y385C	probably damaging	Het
Slc26a1	G	T	5: 108,819,460 (GRCm39)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,834,030 (GRCm39)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,393,262 (GRCm39)	V179A		Het
Sox14	T	G	9: 99,757,562 (GRCm39)	D49A		Het
Spata31g1	G	C	4: 42,971,740 (GRCm39)	V358L	probably benign	Het
Timm22	A	G	11: 76,298,196 (GRCm39)	S56G	probably benign	Het
Tmub2	G	A	11: 102,179,153 (GRCm39)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,756,428 (GRCm39)	T8A	probably benign	Het
Ttn	T	C	2: 76,539,652 (GRCm39)	I34445V	probably benign	Het
Tyms	A	T	5: 30,268,360 (GRCm39)	Y196*	probably null	Het
Ube2o	G	A	11: 116,434,823 (GRCm39)	T546M	probably damaging	Het
Umodl1	A	G	17: 31,217,143 (GRCm39)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unk	A	T	11: 115,950,035 (GRCm39)	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,306,294 (GRCm39)	E232G	probably benign	Het
Vps41	A	G	13: 19,013,396 (GRCm39)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,215,980 (GRCm39)	M800V	probably benign	Het
Wt1	T	A	2: 104,993,711 (GRCm39)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,341,242 (GRCm39)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,906,140 (GRCm39)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 19,972,902 (GRCm39)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,615,386 (GRCm39)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,964,573 (GRCm39)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,388,971 (GRCm39)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,311,413 (GRCm39)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,144,419 (GRCm39)	M150V	probably benign	Het
Znfx1	T	A	2: 166,897,875 (GRCm39)	I350F		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
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'- TGTAACTATAGCCAGGCTGGG -3'
(R):5'- AGATAAATCTTTTCCGGGCAACC -3'

Sequencing Primer
(F):5'- CCAGGCTGGGTGATTGTCAAG -3'
(R):5'- GGCAACCTCTCTCTGCTCACTG -3'

Posted On

2022-08-09