Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Sec13'

618128

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

067471-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113705013-113717642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113712050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 95 (K95R)

Ref Sequence

ENSEMBL: ENSMUSP00000032440 (fasta)

Gene Model

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

AlphaFold

Q9D1M0

Predicted Effect

probably benign
Transcript: ENSMUST00000032440
AA Change: K95R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032440
Gene: ENSMUSG00000030298
AA Change: K95R

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,043,980 (GRCm39)	T680A	probably damaging	Het
Asb3	C	A	11: 31,031,554 (GRCm39)	Y391*	probably null	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc80	A	G	16: 44,943,238 (GRCm39)	I783V	probably damaging	Het
Ccnf	A	G	17: 24,450,805 (GRCm39)	V391A	probably damaging	Het
Cd5l	C	A	3: 87,273,271 (GRCm39)	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,343,769 (GRCm39)	M96K	probably benign	Het
Cspg4b	A	T	13: 113,479,045 (GRCm39)	I1530F		Het
Dennd4a	T	C	9: 64,795,850 (GRCm39)	S725P	probably benign	Het
Dnah6	T	C	6: 73,106,208 (GRCm39)	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,449,281 (GRCm39)	F41L	probably benign	Het
Eif3e	A	T	15: 43,135,703 (GRCm39)	M112K	probably benign	Het
Faim	T	C	9: 98,874,786 (GRCm39)	V111A	possibly damaging	Het
Fat1	A	G	8: 45,404,728 (GRCm39)	E493G	probably benign	Het
Fsip2	A	G	2: 82,819,699 (GRCm39)	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,545,684 (GRCm39)	M1T	probably null	Het
Ggcx	T	C	6: 72,405,587 (GRCm39)	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,913,894 (GRCm39)	T259S	probably benign	Het
Gria2	T	G	3: 80,709,006 (GRCm39)	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,781,338 (GRCm39)	I47F	probably damaging	Het
Heatr6	A	G	11: 83,644,735 (GRCm39)	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,345,180 (GRCm39)		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,345,183 (GRCm39)		probably null	Het
Lcn6	T	A	2: 25,566,883 (GRCm39)	L19*	probably null	Het
Lhcgr	T	C	17: 89,049,784 (GRCm39)	T581A	probably damaging	Het
Map4k1	T	C	7: 28,687,573 (GRCm39)	I203T	probably damaging	Het
Mctp1	G	C	13: 77,039,670 (GRCm39)	L783F	probably damaging	Het
Mlf1	A	T	3: 67,291,921 (GRCm39)	M29L	probably damaging	Het
Npas3	T	A	12: 53,687,312 (GRCm39)	I159N	probably damaging	Het
Nup98	T	C	7: 101,794,930 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,237,081 (GRCm39)	V114A	probably benign	Het
Or4m1	T	C	14: 50,558,023 (GRCm39)	K90E	probably damaging	Het
Or51h5	A	T	7: 102,577,773 (GRCm39)	K313*	probably null	Het
Or5b110-ps1	A	G	19: 13,260,215 (GRCm39)	F69S	probably damaging	Het
Or7d11	A	G	9: 19,966,301 (GRCm39)	F35L	probably benign	Het
Or8b41	T	C	9: 38,054,973 (GRCm39)	Y176H	probably damaging	Het
Otud3	T	C	4: 138,623,111 (GRCm39)	S377G	probably benign	Het
Pclo	T	A	5: 14,571,214 (GRCm39)	S200T	probably damaging	Het
Pex6	G	C	17: 47,033,325 (GRCm39)	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,451,662 (GRCm39)	H2211L	possibly damaging	Het
Sema3c	T	C	5: 17,932,480 (GRCm39)	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,987 (GRCm39)	Y365C	probably damaging	Het
Sp140l2	T	A	1: 85,231,881 (GRCm39)	T180S	probably benign	Het
Sprr2h	A	T	3: 92,294,120 (GRCm39)	E61V	unknown	Het
Tead3	A	C	17: 28,552,203 (GRCm39)	V365G	probably damaging	Het
Trpm7	T	A	2: 126,688,119 (GRCm39)	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167 (GRCm39)	E13G	probably benign	Het
Zfp639	C	A	3: 32,574,215 (GRCm39)	A280E	probably damaging	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
R7265:Sec13	UTSW	6	113,712,097 (GRCm39)	nonsense	probably null
R7928:Sec13	UTSW	6	113,706,601 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGGCTGAGCTTGGAAAG -3'
(R):5'- AACTGGTACTGTGTGTCCCCTG -3'

Sequencing Primer
(F):5'- GGAAAGCCTCACTGTTCTTACTAAAC -3'
(R):5'- TGACCCTCTGAGCAGCCTG -3'

Posted On

2020-01-23