Mutagenetix > Incidental Mutation

Incidental Mutation 'R7265:Sec13'

564867

Institutional Source

Beutler Lab

Gene Symbol

Sec13

Ensembl Gene

ENSMUSG00000030298

Gene Name

SEC13 homolog, nuclear pore and COPII coat complex component

Synonyms

1110003H02Rik, Sec13l1, Sec13r

MMRRC Submission

045355-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113705013-113717642 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 113712097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 79 (Y79*)

Ref Sequence

ENSEMBL: ENSMUSP00000032440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032440]

AlphaFold

Q9D1M0

Predicted Effect

probably null
Transcript: ENSMUST00000032440
AA Change: Y79*

SMART Domains

Protein: ENSMUSP00000032440
Gene: ENSMUSG00000030298
AA Change: Y79*

Domain	Start	End	E-Value	Type
WD40	1	41	7.39e-3	SMART
WD40	46	87	5.55e-7	SMART
WD40	92	133	8.75e-5	SMART
WD40	139	195	2.67e-1	SMART
WD40	201	244	6.73e-6	SMART
WD40	254	290	9.75e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb3	A	G	11: 30,948,495 (GRCm39)	E57G	probably benign	Het
B3glct	A	G	5: 149,632,785 (GRCm39)	D45G	probably benign	Het
BC034090	C	A	1: 155,101,073 (GRCm39)	C397F	probably damaging	Het
Bicd1	A	G	6: 149,415,374 (GRCm39)	K696E	probably damaging	Het
Btnl4	C	T	17: 34,694,868 (GRCm39)	C15Y	probably benign	Het
Cabin1	T	C	10: 75,557,257 (GRCm39)	N300S		Het
Chia1	T	A	3: 106,036,239 (GRCm39)	L273Q	probably damaging	Het
Coq2	A	G	5: 100,808,136 (GRCm39)	S222P	possibly damaging	Het
Dgkb	T	C	12: 38,234,931 (GRCm39)	V432A	possibly damaging	Het
Dpp3	A	G	19: 4,973,797 (GRCm39)	F92S	probably damaging	Het
Elapor2	T	C	5: 9,496,975 (GRCm39)	V813A	possibly damaging	Het
Emcn	T	C	3: 137,122,839 (GRCm39)	S183P	probably damaging	Het
Emcn	T	A	3: 137,124,837 (GRCm39)	W217R	probably damaging	Het
Enpp2	A	C	15: 54,773,429 (GRCm39)		probably null	Het
Epb41	T	C	4: 131,695,145 (GRCm39)	E14G	unknown	Het
Fhip1b	G	T	7: 105,033,432 (GRCm39)	R609S	probably benign	Het
Grk4	A	G	5: 34,873,608 (GRCm39)	R225G	probably damaging	Het
Insl6	A	T	19: 29,298,945 (GRCm39)	W156R	possibly damaging	Het
Ints3	A	T	3: 90,311,290 (GRCm39)		probably null	Het
Jarid2	G	A	13: 45,055,748 (GRCm39)	G318D	probably benign	Het
Kif16b	A	T	2: 142,556,650 (GRCm39)	L596H	probably damaging	Het
Lctl	T	A	9: 64,034,203 (GRCm39)	Y281N	probably damaging	Het
Letm1	A	T	5: 33,935,992 (GRCm39)	C34S	possibly damaging	Het
Lrrc32	T	C	7: 98,148,644 (GRCm39)	S475P	probably damaging	Het
Lrrc37a	T	A	11: 103,389,767 (GRCm39)	D1886V	probably benign	Het
Macf1	A	T	4: 123,301,670 (GRCm39)	I944K	probably benign	Het
Mark4	T	C	7: 19,185,650 (GRCm39)	D28G	probably benign	Het
Mecom	C	A	3: 30,034,282 (GRCm39)	A465S	possibly damaging	Het
Muc16	A	G	9: 18,567,768 (GRCm39)	S1584P	unknown	Het
Mycbp2	A	G	14: 103,434,679 (GRCm39)		probably null	Het
Myo18b	G	A	5: 112,959,938 (GRCm39)	R1372W	probably damaging	Het
Myo1c	T	C	11: 75,560,616 (GRCm39)	I706T	possibly damaging	Het
Myo1g	T	C	11: 6,460,933 (GRCm39)	T704A	possibly damaging	Het
Nwd1	A	G	8: 73,419,556 (GRCm39)	K914E	probably benign	Het
Or5ac20	T	A	16: 59,104,287 (GRCm39)	D191V	probably damaging	Het
Or8b101	A	T	9: 38,020,227 (GRCm39)	I77L	possibly damaging	Het
Or8k23	C	T	2: 86,186,088 (GRCm39)	V213I	probably benign	Het
Otub2	C	T	12: 103,366,480 (GRCm39)	S99L	probably damaging	Het
Pak5	G	A	2: 135,943,105 (GRCm39)	S345L	probably benign	Het
Pcdhb20	A	T	18: 37,638,616 (GRCm39)	I381F	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,969 (GRCm39)	T659A	probably damaging	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Pik3c2a	T	A	7: 115,987,321 (GRCm39)	K533N	probably damaging	Het
Pkd1l1	T	A	11: 8,879,402 (GRCm39)	Q933L		Het
Ppp4r3a	A	T	12: 101,019,770 (GRCm39)	M395K	possibly damaging	Het
Pramel11	C	A	4: 143,621,991 (GRCm39)	V455L	probably benign	Het
Ptpn20	A	G	14: 33,336,481 (GRCm39)	T107A	probably benign	Het
Scaf8	T	A	17: 3,227,900 (GRCm39)	D376E	unknown	Het
Scn11a	C	A	9: 119,644,331 (GRCm39)	C143F	probably damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Sez6	T	A	11: 77,853,691 (GRCm39)	I287N	probably damaging	Het
Slc52a3	T	A	2: 151,846,336 (GRCm39)	I99K	possibly damaging	Het
Slco4c1	T	G	1: 96,799,518 (GRCm39)	H106P	probably damaging	Het
Tada2b	A	G	5: 36,633,952 (GRCm39)	Y209H	probably damaging	Het
Tas1r2	T	A	4: 139,396,963 (GRCm39)	D796E	probably benign	Het
Tdrd12	A	T	7: 35,187,147 (GRCm39)	M581K		Het
Thnsl1	A	G	2: 21,217,269 (GRCm39)	E341G	probably damaging	Het
Tlk2	C	T	11: 105,075,070 (GRCm39)	R11*	probably null	Het
Tmco6	T	C	18: 36,872,396 (GRCm39)		probably null	Het
Trmt44	A	T	5: 35,721,647 (GRCm39)	H505Q	probably benign	Het
Trpc1	T	C	9: 95,590,328 (GRCm39)	M710V	probably benign	Het
Ttc21b	T	C	2: 66,040,517 (GRCm39)	E858G	possibly damaging	Het
Twsg1	C	T	17: 66,236,782 (GRCm39)	D83N	possibly damaging	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Vmn2r6	T	C	3: 64,464,195 (GRCm39)	N213S	probably benign	Het
Vmn2r88	G	A	14: 51,655,776 (GRCm39)	V662I		Het
Zfp414	C	A	17: 33,850,253 (GRCm39)	D217E	probably benign	Het

Other mutations in Sec13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02044:Sec13	APN	6	113,713,381 (GRCm39)	missense	probably damaging	1.00
BB005:Sec13	UTSW	6	113,706,601 (GRCm39)	missense	probably damaging	1.00
BB015:Sec13	UTSW	6	113,706,601 (GRCm39)	missense	probably damaging	1.00
R0470:Sec13	UTSW	6	113,717,593 (GRCm39)	unclassified	probably benign
R0507:Sec13	UTSW	6	113,712,080 (GRCm39)	missense	probably damaging	1.00
R1269:Sec13	UTSW	6	113,714,956 (GRCm39)	missense	probably damaging	0.98
R4120:Sec13	UTSW	6	113,711,637 (GRCm39)	missense	probably damaging	1.00
R4624:Sec13	UTSW	6	113,706,652 (GRCm39)	missense	probably benign	0.02
R4938:Sec13	UTSW	6	113,712,153 (GRCm39)	missense	probably damaging	1.00
R5156:Sec13	UTSW	6	113,707,837 (GRCm39)	missense	probably benign	0.05
R6065:Sec13	UTSW	6	113,707,793 (GRCm39)	missense	probably benign	0.01
R6302:Sec13	UTSW	6	113,712,167 (GRCm39)	missense	probably damaging	1.00
R7928:Sec13	UTSW	6	113,706,601 (GRCm39)	missense	probably damaging	1.00
R8034:Sec13	UTSW	6	113,712,050 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCAACAAATGTCCAAAGGATG -3'
(R):5'- ACCAAATTTAAGTGTGGTGGCAC -3'

Sequencing Primer
(F):5'- TGGACAACAACAAGAGAAGGGTCTG -3'
(R):5'- TCTGGCAGGATCACAAGCTC -3'

Posted On

2019-06-26