Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Sec31a'

39757

Institutional Source

Beutler Lab

Gene Symbol

Sec31a

Ensembl Gene

ENSMUSG00000035325

Gene Name

SEC31 homolog A, COPII coat complex component

Synonyms

1810024J13Rik, Sec31l1

MMRRC Submission

038653-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R0453 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100509508-100564093 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 100551977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138213 (fasta)

Gene Model

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

AlphaFold

Q3UPL0

Predicted Effect

probably benign
Transcript: ENSMUST00000094578

SMART Domains

Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325

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

noncoding transcript
Transcript: ENSMUST00000182171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182850

Predicted Effect

probably benign
Transcript: ENSMUST00000182886

SMART Domains

Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (97/98)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,765,445 (GRCm39)	K843*	probably null	Het
Adam26b	T	C	8: 43,973,387 (GRCm39)	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,150,852 (GRCm39)	Y337H	probably damaging	Het
Ak7	T	C	12: 105,682,307 (GRCm39)	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,106,338 (GRCm39)	M238V	probably benign	Het
Asic4	T	A	1: 75,450,155 (GRCm39)		probably benign	Het
AW551984	A	G	9: 39,511,937 (GRCm39)	S25P	probably damaging	Het
Bbs7	T	A	3: 36,661,818 (GRCm39)	Y127F	possibly damaging	Het
Bco1	G	A	8: 117,835,516 (GRCm39)	E156K	possibly damaging	Het
Becn1	T	C	11: 101,181,275 (GRCm39)	D342G	probably damaging	Het
Birc6	T	A	17: 74,956,749 (GRCm39)	I3575N	probably damaging	Het
Brd10	T	C	19: 29,731,068 (GRCm39)	Y715C	probably damaging	Het
Cc2d2a	A	T	5: 43,860,636 (GRCm39)	M522L	probably benign	Het
Cerkl	A	G	2: 79,172,795 (GRCm39)	F293L	probably benign	Het
Chil3	T	G	3: 106,056,221 (GRCm39)	N311T	probably benign	Het
Cpeb2	T	A	5: 43,443,056 (GRCm39)		probably benign	Het
Cpxm2	A	G	7: 131,730,134 (GRCm39)	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,044,176 (GRCm39)	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,012,258 (GRCm39)	M347K	probably benign	Het
Dicer1	C	A	12: 104,668,889 (GRCm39)	R1264S	probably benign	Het
Dlgap1	T	A	17: 71,068,341 (GRCm39)	N609K	probably benign	Het
Dnhd1	A	G	7: 105,323,651 (GRCm39)	T641A	probably benign	Het
Egfl8	T	C	17: 34,833,856 (GRCm39)	Y74C	probably damaging	Het
Esyt1	A	G	10: 128,348,078 (GRCm39)	S901P	probably benign	Het
Fam83e	A	T	7: 45,373,372 (GRCm39)	D246V	probably damaging	Het
Galnt2	T	C	8: 125,065,323 (GRCm39)		probably benign	Het
Hdc	A	G	2: 126,436,871 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,054 (GRCm39)	Q958P	probably benign	Het
Iqcg	T	A	16: 32,870,213 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,450,829 (GRCm39)	F590Y	probably damaging	Het
Jak2	T	C	19: 29,289,238 (GRCm39)	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,077,499 (GRCm39)	A33T	probably benign	Het
Kcnip4	A	G	5: 48,667,054 (GRCm39)	L37P	probably damaging	Het
Klk6	A	G	7: 43,477,963 (GRCm39)	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,559,745 (GRCm39)	T1011I	probably damaging	Het
Knl1	A	T	2: 118,898,869 (GRCm39)	K190M	probably damaging	Het
Lama3	T	A	18: 12,598,535 (GRCm39)	S981T	possibly damaging	Het
Lrrc18	T	C	14: 32,730,608 (GRCm39)	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,741,674 (GRCm39)	E245G	probably damaging	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Macf1	T	C	4: 123,338,737 (GRCm39)	I2456M	probably benign	Het
Mcm6	T	A	1: 128,261,292 (GRCm39)	T771S	probably benign	Het
Met	A	C	6: 17,534,197 (GRCm39)	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,524,211 (GRCm39)	T123S	probably damaging	Het
Myh8	A	T	11: 67,183,731 (GRCm39)	I787F	probably benign	Het
Myocd	A	G	11: 65,087,051 (GRCm39)	F292S	probably damaging	Het
Neb	T	C	2: 52,203,902 (GRCm39)		probably null	Het
Nfe2l1	A	G	11: 96,718,194 (GRCm39)	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,541,551 (GRCm39)	S986P	probably damaging	Het
Oprl1	T	C	2: 181,360,527 (GRCm39)		probably null	Het
Or11h6	T	C	14: 50,880,461 (GRCm39)	V241A	possibly damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
Or5b101	T	G	19: 13,005,295 (GRCm39)	T133P	probably damaging	Het
Or6c8	A	G	10: 128,915,640 (GRCm39)	F64S	probably damaging	Het
Or8b53	G	A	9: 38,667,425 (GRCm39)	G147D	probably damaging	Het
Or8c9	A	T	9: 38,241,467 (GRCm39)	T195S	probably benign	Het
Panx2	T	A	15: 88,952,610 (GRCm39)	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,005,134 (GRCm39)	V545E	probably damaging	Het
Piwil4	T	C	9: 14,638,748 (GRCm39)	N259S	probably benign	Het
Plcxd2	A	T	16: 45,800,919 (GRCm39)	F102I	probably damaging	Het
Pld5	A	T	1: 175,917,522 (GRCm39)	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,041,929 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,631,845 (GRCm39)	S1074P	possibly damaging	Het
Pop1	T	A	15: 34,526,352 (GRCm39)	V649E	possibly damaging	Het
Prc1	A	G	7: 79,962,850 (GRCm39)	N548S	probably damaging	Het
Prss51	T	C	14: 64,334,588 (GRCm39)	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,585,428 (GRCm39)	S576P	possibly damaging	Het
Rictor	A	G	15: 6,738,123 (GRCm39)	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,018,645 (GRCm39)	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 46,021,087 (GRCm39)		noncoding transcript	Het
Saa2	A	G	7: 46,402,902 (GRCm39)	D51G	probably damaging	Het
Secisbp2	G	A	13: 51,837,361 (GRCm39)	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,393,306 (GRCm39)	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,440,492 (GRCm39)	H481L	probably benign	Het
Suz12	T	A	11: 79,920,859 (GRCm39)	N586K	probably damaging	Het
Synm	T	C	7: 67,386,630 (GRCm39)	Y344C	possibly damaging	Het
Tas2r104	A	G	6: 131,662,304 (GRCm39)	V135A	probably benign	Het
Tdrd9	T	C	12: 112,034,673 (GRCm39)	S1371P	probably benign	Het
Tg	T	A	15: 66,700,382 (GRCm39)	D893E	probably benign	Het
Thoc5	C	A	11: 4,868,217 (GRCm39)	D423E	possibly damaging	Het
Trim11	G	A	11: 58,881,361 (GRCm39)	R418H	probably damaging	Het
Trim52	T	G	14: 106,344,399 (GRCm39)	V19G	probably damaging	Het
Tuba4a	C	A	1: 75,192,502 (GRCm39)	V371L	probably damaging	Het
Ugt8a	A	G	3: 125,708,606 (GRCm39)	V168A	probably benign	Het
Ulk1	C	T	5: 110,938,951 (GRCm39)	G496R	probably damaging	Het
Usp40	A	G	1: 87,874,320 (GRCm39)	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,757,350 (GRCm39)		probably null	Het
Vmn2r53	A	G	7: 12,316,338 (GRCm39)	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,595,442 (GRCm39)	D414V	probably benign	Het
Wdr26	A	T	1: 181,010,444 (GRCm39)	L519*	probably null	Het
Wnk1	A	G	6: 119,940,112 (GRCm39)	V173A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp318	T	C	17: 46,707,634 (GRCm39)	S231P	probably damaging	Het
Zfp398	T	C	6: 47,842,782 (GRCm39)	V146A	probably benign	Het
Zfp410	T	C	12: 84,378,486 (GRCm39)	M270T	probably damaging	Het
Zfp445	A	T	9: 122,682,578 (GRCm39)	H454Q	possibly damaging	Het

Other mutations in Sec31a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Sec31a	APN	5	100,551,876 (GRCm39)	nonsense	probably null
IGL01610:Sec31a	APN	5	100,550,217 (GRCm39)	splice site	probably benign
IGL01804:Sec31a	APN	5	100,523,065 (GRCm39)	critical splice donor site	probably null
IGL02026:Sec31a	APN	5	100,517,485 (GRCm39)	missense	probably benign	0.04
IGL02150:Sec31a	APN	5	100,533,984 (GRCm39)	splice site	probably benign
IGL02237:Sec31a	APN	5	100,509,914 (GRCm39)	missense	probably damaging	1.00
IGL02469:Sec31a	APN	5	100,533,114 (GRCm39)	missense	probably benign	0.02
IGL02512:Sec31a	APN	5	100,555,052 (GRCm39)	missense	probably damaging	0.99
control	UTSW	5	100,510,032 (GRCm39)	missense	probably damaging	1.00
D3080:Sec31a	UTSW	5	100,511,691 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Sec31a	UTSW	5	100,555,134 (GRCm39)	missense	probably damaging	1.00
R0366:Sec31a	UTSW	5	100,530,625 (GRCm39)	missense	probably damaging	1.00
R0511:Sec31a	UTSW	5	100,523,099 (GRCm39)	missense	probably benign	0.01
R0546:Sec31a	UTSW	5	100,551,929 (GRCm39)	missense	probably damaging	1.00
R0675:Sec31a	UTSW	5	100,541,066 (GRCm39)	missense	probably damaging	0.97
R0678:Sec31a	UTSW	5	100,555,084 (GRCm39)	missense	possibly damaging	0.74
R0975:Sec31a	UTSW	5	100,543,763 (GRCm39)	splice site	probably null
R1146:Sec31a	UTSW	5	100,510,032 (GRCm39)	missense	probably damaging	1.00
R1146:Sec31a	UTSW	5	100,510,032 (GRCm39)	missense	probably damaging	1.00
R1540:Sec31a	UTSW	5	100,523,178 (GRCm39)	missense	probably damaging	1.00
R1616:Sec31a	UTSW	5	100,534,054 (GRCm39)	missense	possibly damaging	0.88
R1780:Sec31a	UTSW	5	100,529,195 (GRCm39)	splice site	probably null
R2472:Sec31a	UTSW	5	100,533,064 (GRCm39)	missense	probably damaging	1.00
R3689:Sec31a	UTSW	5	100,530,766 (GRCm39)	missense	probably damaging	1.00
R4515:Sec31a	UTSW	5	100,513,817 (GRCm39)	missense	probably damaging	0.99
R4801:Sec31a	UTSW	5	100,541,222 (GRCm39)	missense	probably damaging	0.96
R4802:Sec31a	UTSW	5	100,541,222 (GRCm39)	missense	probably damaging	0.96
R4896:Sec31a	UTSW	5	100,516,192 (GRCm39)	missense	probably damaging	1.00
R5004:Sec31a	UTSW	5	100,516,192 (GRCm39)	missense	probably damaging	1.00
R5053:Sec31a	UTSW	5	100,541,073 (GRCm39)	missense	possibly damaging	0.94
R5158:Sec31a	UTSW	5	100,541,180 (GRCm39)	missense	probably damaging	0.99
R5191:Sec31a	UTSW	5	100,553,370 (GRCm39)	missense	possibly damaging	0.75
R5222:Sec31a	UTSW	5	100,530,754 (GRCm39)	missense	probably benign
R5405:Sec31a	UTSW	5	100,531,657 (GRCm39)	nonsense	probably null
R5436:Sec31a	UTSW	5	100,511,698 (GRCm39)	missense	probably damaging	0.98
R5577:Sec31a	UTSW	5	100,550,133 (GRCm39)	missense	possibly damaging	0.95
R6005:Sec31a	UTSW	5	100,511,737 (GRCm39)	missense	probably damaging	1.00
R6184:Sec31a	UTSW	5	100,517,453 (GRCm39)	critical splice donor site	probably null
R6245:Sec31a	UTSW	5	100,534,043 (GRCm39)	missense	probably benign	0.07
R6475:Sec31a	UTSW	5	100,533,129 (GRCm39)	missense	probably damaging	1.00
R6476:Sec31a	UTSW	5	100,534,008 (GRCm39)	missense	probably benign	0.03
R6744:Sec31a	UTSW	5	100,540,358 (GRCm39)	missense	possibly damaging	0.47
R6804:Sec31a	UTSW	5	100,530,671 (GRCm39)	missense	probably benign	0.03
R6911:Sec31a	UTSW	5	100,541,123 (GRCm39)	missense	possibly damaging	0.92
R6936:Sec31a	UTSW	5	100,540,369 (GRCm39)	missense	probably benign
R7345:Sec31a	UTSW	5	100,533,129 (GRCm39)	missense	probably damaging	1.00
R7760:Sec31a	UTSW	5	100,540,487 (GRCm39)	missense	probably damaging	1.00
R7898:Sec31a	UTSW	5	100,547,336 (GRCm39)	missense	probably damaging	0.99
R8088:Sec31a	UTSW	5	100,526,721 (GRCm39)	missense
R8555:Sec31a	UTSW	5	100,540,273 (GRCm39)	missense	probably benign	0.25
R8762:Sec31a	UTSW	5	100,526,688 (GRCm39)	missense
R9055:Sec31a	UTSW	5	100,534,040 (GRCm39)	missense	possibly damaging	0.75
R9173:Sec31a	UTSW	5	100,529,147 (GRCm39)	missense	possibly damaging	0.85
R9249:Sec31a	UTSW	5	100,533,083 (GRCm39)	missense	probably damaging	0.98
X0003:Sec31a	UTSW	5	100,547,213 (GRCm39)	missense	probably damaging	0.98
Z1177:Sec31a	UTSW	5	100,531,704 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGAGTGACTACTTACCACTCGAAG -3'
(R):5'- TGATTGTGTCTCTAACAATCCAACCGC -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- GCGGAACTGTCCCTTTTTTGT -3'

Posted On

2013-05-23