Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4142001:Sec31a'

486920

Institutional Source

Beutler Lab

Gene Symbol

Sec31a

Ensembl Gene

ENSMUSG00000035325

Gene Name

SEC31 homolog A, COPII coat complex component

Synonyms

1810024J13Rik, Sec31l1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

PIT4142001 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

100509508-100564093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100555134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 29 (S29T)

Ref Sequence

ENSEMBL: ENSMUSP00000138213 (fasta)

Gene Model

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

AlphaFold

Q3UPL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000094578
AA Change: S29T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325
AA Change: S29T

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 damaging
Transcript: ENSMUST00000182886
AA Change: S29T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325
AA Change: S29T

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

0.1419

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (105/114)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,981,022 (GRCm39)	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,914,499 (GRCm39)	E43G	probably damaging	Het
Ap1b1	T	G	11: 4,990,360 (GRCm39)	L872W	probably damaging	Het
Arid1b	T	A	17: 5,389,518 (GRCm39)	M1688K	probably damaging	Het
Brca1	T	C	11: 101,413,248 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,952,675 (GRCm39)	V1151I	probably benign	Het
Card6	T	A	15: 5,128,113 (GRCm39)	Q1094H	unknown	Het
Cd22	C	A	7: 30,577,224 (GRCm39)	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 179,859,125 (GRCm39)	N109I	probably damaging	Het
Ces2b	T	C	8: 105,563,442 (GRCm39)	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,674,072 (GRCm39)	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,612,686 (GRCm39)		probably benign	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dcc	A	T	18: 71,517,297 (GRCm39)		probably null	Het
Dnaaf5	A	G	5: 139,171,273 (GRCm39)	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,115,672 (GRCm39)	T46A	probably damaging	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	G	C	10: 58,059,278 (GRCm39)	P492R	probably damaging	Het
Duxf3	C	A	10: 58,066,990 (GRCm39)	C503F	probably damaging	Het
Duxf3	C	A	10: 58,066,810 (GRCm39)	R563M	probably damaging	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Etfdh	C	T	3: 79,517,174 (GRCm39)	S345N	probably damaging	Het
Fat3	A	G	9: 15,903,414 (GRCm39)		probably null	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gabra4	T	C	5: 71,729,106 (GRCm39)	N558S	probably damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350 (GRCm39)	L142S	probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Het
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,497,361 (GRCm39)		probably null	Het
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Gm21663	C	T	5: 26,143,767 (GRCm39)	R185H	probably benign	Het
Gm21738	G	A	14: 19,417,330 (GRCm38)	S66L	probably benign	Het
Gpr107	T	A	2: 31,057,083 (GRCm39)	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,838,799 (GRCm39)		probably null	Het
Hc	C	T	2: 34,921,833 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,089 (GRCm39)	M327K	probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Ifi206	A	G	1: 173,308,730 (GRCm39)	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,094,317 (GRCm39)	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,479,608 (GRCm39)		probably benign	Het
Kndc1	TC	T	7: 139,503,692 (GRCm39)		probably null	Het
Lig1	GC	G	7: 13,039,850 (GRCm39)		probably null	Het
Lrit1	A	G	14: 36,783,998 (GRCm39)	Y442C	probably damaging	Het
Map3k21	C	A	8: 126,664,047 (GRCm39)	P536H	probably damaging	Het
Marchf10	T	A	11: 105,281,346 (GRCm39)	Y313F	probably benign	Het
Mcm5	A	G	8: 75,853,864 (GRCm39)	H706R	probably benign	Het
Mlycd	T	G	8: 120,137,199 (GRCm39)	I473S	probably damaging	Het
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Het
Myo5c	T	C	9: 75,191,230 (GRCm39)	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,198,907 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,784 (GRCm39)	*309Q	probably null	Het
Pak2	A	T	16: 31,841,930 (GRCm39)	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,417,931 (GRCm39)	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,077,316 (GRCm39)	E286G	probably benign	Het
Plekhn1	G	A	4: 156,309,397 (GRCm39)	R196*	probably null	Het
Pramel41	A	C	5: 94,594,643 (GRCm39)	K168Q	probably benign	Het
Prdm10	T	A	9: 31,237,063 (GRCm39)	D145E	probably benign	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,272,342 (GRCm39)	E132G	probably benign	Het
Rasgrf1	G	A	9: 89,797,626 (GRCm39)	R168H	possibly damaging	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rpl5	T	C	5: 108,055,049 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,722,682 (GRCm39)	K2603E	probably damaging	Het
Sap130	T	C	18: 31,800,064 (GRCm39)		probably null	Het
Scn5a	C	A	9: 119,315,324 (GRCm39)	D1794Y	probably damaging	Het
Selplg	T	G	5: 113,957,689 (GRCm39)	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,538,714 (GRCm39)		probably null	Het
Sirpb1a	A	T	3: 15,476,258 (GRCm39)	F180I	probably benign	Het
Slc44a4	A	G	17: 35,140,251 (GRCm39)	I67V	probably damaging	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Stab2	A	T	10: 86,703,039 (GRCm39)	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,494,099 (GRCm39)	V642A	possibly damaging	Het
Tfam	T	C	10: 71,070,813 (GRCm39)	K63R	possibly damaging	Het
Trim2	T	C	3: 84,098,164 (GRCm39)	N379S	probably benign	Het
Trp63	C	T	16: 25,684,013 (GRCm39)	T300I	probably damaging	Het
Tymp	C	A	15: 89,260,548 (GRCm39)	W90L	probably damaging	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Ugt1a10	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,703,548 (GRCm39)		probably benign	Het
Uvssa	C	T	5: 33,549,428 (GRCm39)	A363V	probably benign	Het
Vldlr	T	A	19: 27,212,269 (GRCm39)	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn1r67	T	A	7: 10,180,877 (GRCm39)	M47K	probably benign	Het
Vmn1r87	A	T	7: 12,866,112 (GRCm39)	H58Q	probably benign	Het
Vmn1r89	A	G	7: 12,953,515 (GRCm39)	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,774,839 (GRCm39)		probably null	Het
Xirp2	T	C	2: 67,349,706 (GRCm39)		probably benign	Het
Zbtb2	A	G	10: 4,319,493 (GRCm39)	S178P	probably benign	Het
Zfp534	C	A	4: 147,762,770 (GRCm39)	D21Y	probably benign	Het
Zfp534	C	T	4: 147,760,031 (GRCm39)	E213K	probably benign	Het
Zfp804b	C	T	5: 6,819,422 (GRCm39)	V1214I	probably damaging	Het
Zfp82	G	T	7: 29,756,701 (GRCm39)	T63K	probably damaging	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	probably benign	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
R0366:Sec31a	UTSW	5	100,530,625 (GRCm39)	missense	probably damaging	1.00
R0453:Sec31a	UTSW	5	100,551,977 (GRCm39)	splice site	probably benign
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'- TATTAGTGAGTTCTAGGCCAGC -3'
(R):5'- GTGTCAGATCTTAGTGTTGCAC -3'

Sequencing Primer
(F):5'- GCTACAAGAGACCGTGCC -3'
(R):5'- ACTCATTTAGCCATGCTCAGGG -3'

Posted On

2017-09-21