Mutagenetix > Incidental Mutations

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, Sec13r, Sec13l1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113728062-113740743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113735089 bp

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]

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: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in Sec13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02044:Sec13	APN	6	113736420	missense	probably damaging	1.00
BB005:Sec13	UTSW	6	113729640	missense	probably damaging	1.00
BB015:Sec13	UTSW	6	113729640	missense	probably damaging	1.00
R0470:Sec13	UTSW	6	113740632	unclassified	probably benign
R0507:Sec13	UTSW	6	113735119	missense	probably damaging	1.00
R1269:Sec13	UTSW	6	113737995	missense	probably damaging	0.98
R4120:Sec13	UTSW	6	113734676	missense	probably damaging	1.00
R4624:Sec13	UTSW	6	113729691	missense	probably benign	0.02
R4938:Sec13	UTSW	6	113735192	missense	probably damaging	1.00
R5156:Sec13	UTSW	6	113730876	missense	probably benign	0.05
R6065:Sec13	UTSW	6	113730832	missense	probably benign	0.01
R6302:Sec13	UTSW	6	113735206	missense	probably damaging	1.00
R7265:Sec13	UTSW	6	113735136	nonsense	probably null
R7928:Sec13	UTSW	6	113729640	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