Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Sec31a'

46899

Institutional Source

Beutler Lab

Gene Symbol

Sec31a

Ensembl Gene

ENSMUSG00000035325

Gene Name

Sec31 homolog A (S. cerevisiae)

Synonyms

Sec31l1, 1810024J13Rik

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100361649-100416234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100375240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 864 (P864L)

Ref Sequence

ENSEMBL: ENSMUSP00000092157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094578] [ENSMUST00000182886]

AlphaFold

Q3UPL0

Predicted Effect

probably benign
Transcript: ENSMUST00000094578
AA Change: P864L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325
AA Change: P864L

Domain	Start	End	E-Value	Type
WD40	56	102	1.59e1	SMART
WD40	111	151	5.15e-2	SMART
WD40	158	197	5.16e-1	SMART
WD40	200	245	6.63e0	SMART
WD40	249	289	1.95e-2	SMART
WD40	292	332	4.24e-3	SMART
low complexity region	363	373	N/A	INTRINSIC
Pfam:Sec16_C	572	769	3.5e-7	PFAM
low complexity region	866	882	N/A	INTRINSIC
low complexity region	930	949	N/A	INTRINSIC
low complexity region	953	975	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182002
AA Change: P88L

Predicted Effect

probably benign
Transcript: ENSMUST00000182433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182569

Predicted Effect

unknown
Transcript: ENSMUST00000182812
AA Change: P175L

Predicted Effect

probably benign
Transcript: ENSMUST00000182886
AA Change: P825L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325
AA Change: P825L

Domain	Start	End	E-Value	Type
WD40	56	102	1e-1	SMART
WD40	111	151	3.3e-4	SMART
WD40	158	197	3.2e-3	SMART
WD40	200	245	4.1e-2	SMART
WD40	249	289	1.2e-4	SMART
WD40	292	332	2.6e-5	SMART
low complexity region	363	373	N/A	INTRINSIC
Pfam:Sec16_C	532	731	2.1e-6	PFAM
low complexity region	827	843	N/A	INTRINSIC
low complexity region	891	910	N/A	INTRINSIC
low complexity region	914	936	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182988
AA Change: P595L

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

All alleles(31) : Gene trapped(31)

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071 (GRCm38)		probably null	Het
A630095E13Rik	A	T	9: 36,638,577 (GRCm38)		probably null	Het
Abca13	G	T	11: 9,294,559 (GRCm38)	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458 (GRCm38)		probably benign	Het
Adam3	A	T	8: 24,695,315 (GRCm38)	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538 (GRCm38)	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571 (GRCm38)		probably benign	Het
Anapc4	A	G	5: 52,842,017 (GRCm38)		probably benign	Het
Ank3	A	T	10: 69,882,368 (GRCm38)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059 (GRCm38)		probably benign	Het
Ankrd13b	T	A	11: 77,473,288 (GRCm38)	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055 (GRCm38)	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417 (GRCm38)		probably null	Het
Atg2a	T	C	19: 6,252,539 (GRCm38)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153 (GRCm38)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218 (GRCm38)		probably benign	Het
Bbof1	T	A	12: 84,430,271 (GRCm38)	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843 (GRCm38)		probably null	Het
C130079G13Rik	A	G	3: 59,936,350 (GRCm38)	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582 (GRCm38)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296 (GRCm38)	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927 (GRCm38)	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176 (GRCm38)	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019 (GRCm38)	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191 (GRCm38)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104 (GRCm38)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185 (GRCm38)	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333 (GRCm38)		probably null	Het
Csmd1	C	T	8: 15,932,529 (GRCm38)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405 (GRCm38)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038 (GRCm38)		probably benign	Het
Dach1	A	T	14: 97,901,329 (GRCm38)	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022 (GRCm38)	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028 (GRCm38)	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841 (GRCm38)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467 (GRCm38)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126 (GRCm38)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485 (GRCm38)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm38)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222 (GRCm38)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980 (GRCm38)		probably benign	Het
Fam184a	G	T	10: 53,698,879 (GRCm38)	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401 (GRCm38)	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945 (GRCm38)		probably benign	Het
Gm9047	G	T	6: 29,478,170 (GRCm38)		probably benign	Het
Haus5	A	T	7: 30,659,067 (GRCm38)	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143 (GRCm38)		probably null	Het
Hr	T	A	14: 70,561,912 (GRCm38)	C641*	probably null	Het
Itga10	A	G	3: 96,658,174 (GRCm38)	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435 (GRCm38)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723 (GRCm38)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447 (GRCm38)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607 (GRCm38)		probably benign	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677 (GRCm38)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785 (GRCm38)	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267 (GRCm38)	T299A	probably benign	Het
Med25	A	G	7: 44,885,078 (GRCm38)		probably null	Het
Mpg	A	T	11: 32,230,039 (GRCm38)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918 (GRCm38)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507 (GRCm38)	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317 (GRCm38)	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330 (GRCm38)	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769 (GRCm38)	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359 (GRCm38)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm38)	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716 (GRCm38)	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005 (GRCm38)	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606 (GRCm38)	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851 (GRCm38)	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028 (GRCm38)	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715 (GRCm38)		probably benign	Het
Pclo	A	G	5: 14,678,285 (GRCm38)		probably benign	Het
Pclo	T	C	5: 14,679,398 (GRCm38)		probably benign	Het
Pcnt	A	T	10: 76,404,595 (GRCm38)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757 (GRCm38)	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555 (GRCm38)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235 (GRCm38)	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832 (GRCm38)	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282 (GRCm38)	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216 (GRCm38)		probably benign	Het
Ptbp2	T	G	3: 119,720,964 (GRCm38)	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069 (GRCm38)		probably benign	Het
Rbm6	G	A	9: 107,847,289 (GRCm38)	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783 (GRCm38)	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383 (GRCm38)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Robo1	T	C	16: 73,013,125 (GRCm38)		probably null	Het
Samd12	G	A	15: 53,860,171 (GRCm38)	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700 (GRCm38)	M1494K	probably damaging	Het
Senp2	T	C	16: 22,036,570 (GRCm38)	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362 (GRCm38)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462 (GRCm38)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895 (GRCm38)	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545 (GRCm38)	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slc4a10	G	A	2: 62,286,862 (GRCm38)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860 (GRCm38)		probably benign	Het
Smg6	T	A	11: 74,929,058 (GRCm38)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587 (GRCm38)	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984 (GRCm38)		probably null	Het
Sugp1	A	G	8: 70,059,363 (GRCm38)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579 (GRCm38)	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620 (GRCm38)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873 (GRCm38)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245 (GRCm38)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803 (GRCm38)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718 (GRCm38)	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120 (GRCm38)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715 (GRCm38)	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750 (GRCm38)	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440 (GRCm38)		probably benign	Het
Vmn2r55	C	T	7: 12,671,018 (GRCm38)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549 (GRCm38)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936 (GRCm38)	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522 (GRCm38)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660 (GRCm38)	I1023T	possibly damaging	Het

Other mutations in Sec31a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Sec31a	APN	5	100,404,017 (GRCm38)	nonsense	probably null
IGL01610:Sec31a	APN	5	100,402,358 (GRCm38)	splice site	probably benign
IGL01804:Sec31a	APN	5	100,375,206 (GRCm38)	critical splice donor site	probably null
IGL02026:Sec31a	APN	5	100,369,626 (GRCm38)	missense	probably benign	0.04
IGL02150:Sec31a	APN	5	100,386,125 (GRCm38)	splice site	probably benign
IGL02237:Sec31a	APN	5	100,362,055 (GRCm38)	missense	probably damaging	1.00
IGL02469:Sec31a	APN	5	100,385,255 (GRCm38)	missense	probably benign	0.02
IGL02512:Sec31a	APN	5	100,407,193 (GRCm38)	missense	probably damaging	0.99
control	UTSW	5	100,362,173 (GRCm38)	missense	probably damaging	1.00
D3080:Sec31a	UTSW	5	100,363,832 (GRCm38)	missense	probably damaging	1.00
PIT4142001:Sec31a	UTSW	5	100,407,275 (GRCm38)	missense	probably damaging	1.00
R0366:Sec31a	UTSW	5	100,382,766 (GRCm38)	missense	probably damaging	1.00
R0453:Sec31a	UTSW	5	100,404,118 (GRCm38)	splice site	probably benign
R0546:Sec31a	UTSW	5	100,404,070 (GRCm38)	missense	probably damaging	1.00
R0675:Sec31a	UTSW	5	100,393,207 (GRCm38)	missense	probably damaging	0.97
R0678:Sec31a	UTSW	5	100,407,225 (GRCm38)	missense	possibly damaging	0.74
R0975:Sec31a	UTSW	5	100,395,904 (GRCm38)	splice site	probably null
R1146:Sec31a	UTSW	5	100,362,173 (GRCm38)	missense	probably damaging	1.00
R1146:Sec31a	UTSW	5	100,362,173 (GRCm38)	missense	probably damaging	1.00
R1540:Sec31a	UTSW	5	100,375,319 (GRCm38)	missense	probably damaging	1.00
R1616:Sec31a	UTSW	5	100,386,195 (GRCm38)	missense	possibly damaging	0.88
R1780:Sec31a	UTSW	5	100,381,336 (GRCm38)	splice site	probably null
R2472:Sec31a	UTSW	5	100,385,205 (GRCm38)	missense	probably damaging	1.00
R3689:Sec31a	UTSW	5	100,382,907 (GRCm38)	missense	probably damaging	1.00
R4515:Sec31a	UTSW	5	100,365,958 (GRCm38)	missense	probably damaging	0.99
R4801:Sec31a	UTSW	5	100,393,363 (GRCm38)	missense	probably damaging	0.96
R4802:Sec31a	UTSW	5	100,393,363 (GRCm38)	missense	probably damaging	0.96
R4896:Sec31a	UTSW	5	100,368,333 (GRCm38)	missense	probably damaging	1.00
R5004:Sec31a	UTSW	5	100,368,333 (GRCm38)	missense	probably damaging	1.00
R5053:Sec31a	UTSW	5	100,393,214 (GRCm38)	missense	possibly damaging	0.94
R5158:Sec31a	UTSW	5	100,393,321 (GRCm38)	missense	probably damaging	0.99
R5191:Sec31a	UTSW	5	100,405,511 (GRCm38)	missense	possibly damaging	0.75
R5222:Sec31a	UTSW	5	100,382,895 (GRCm38)	missense	probably benign
R5405:Sec31a	UTSW	5	100,383,798 (GRCm38)	nonsense	probably null
R5436:Sec31a	UTSW	5	100,363,839 (GRCm38)	missense	probably damaging	0.98
R5577:Sec31a	UTSW	5	100,402,274 (GRCm38)	missense	possibly damaging	0.95
R6005:Sec31a	UTSW	5	100,363,878 (GRCm38)	missense	probably damaging	1.00
R6184:Sec31a	UTSW	5	100,369,594 (GRCm38)	critical splice donor site	probably null
R6245:Sec31a	UTSW	5	100,386,184 (GRCm38)	missense	probably benign	0.07
R6475:Sec31a	UTSW	5	100,385,270 (GRCm38)	missense	probably damaging	1.00
R6476:Sec31a	UTSW	5	100,386,149 (GRCm38)	missense	probably benign	0.03
R6744:Sec31a	UTSW	5	100,392,499 (GRCm38)	missense	possibly damaging	0.47
R6804:Sec31a	UTSW	5	100,382,812 (GRCm38)	missense	probably benign	0.03
R6911:Sec31a	UTSW	5	100,393,264 (GRCm38)	missense	possibly damaging	0.92
R6936:Sec31a	UTSW	5	100,392,510 (GRCm38)	missense	probably benign
R7345:Sec31a	UTSW	5	100,385,270 (GRCm38)	missense	probably damaging	1.00
R7760:Sec31a	UTSW	5	100,392,628 (GRCm38)	missense	probably damaging	1.00
R7898:Sec31a	UTSW	5	100,399,477 (GRCm38)	missense	probably damaging	0.99
R8088:Sec31a	UTSW	5	100,378,862 (GRCm38)	missense
R8555:Sec31a	UTSW	5	100,392,414 (GRCm38)	missense	probably benign	0.25
R8762:Sec31a	UTSW	5	100,378,829 (GRCm38)	missense
R9055:Sec31a	UTSW	5	100,386,181 (GRCm38)	missense	possibly damaging	0.75
R9173:Sec31a	UTSW	5	100,381,288 (GRCm38)	missense	possibly damaging	0.85
R9249:Sec31a	UTSW	5	100,385,224 (GRCm38)	missense	probably damaging	0.98
X0003:Sec31a	UTSW	5	100,399,354 (GRCm38)	missense	probably damaging	0.98
Z1177:Sec31a	UTSW	5	100,383,845 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCGTTGCTGCAAAGCATACAC -3'
(R):5'- TCAGAGACTGCAAGGCTATTTGGTG -3'

Sequencing Primer
(F):5'- gggtgagtgtgtgggtg -3'
(R):5'- AAGGCTATTTGGTGAGACTTGATCC -3'

Posted On

2013-06-11