Mutagenetix > Incidental Mutation

Incidental Mutation 'R5436:Sec31a'

428330

Institutional Source

Beutler Lab

Gene Symbol

Sec31a

Ensembl Gene

ENSMUSG00000035325

Gene Name

SEC31 homolog A, COPII coat complex component

Synonyms

1810024J13Rik, Sec31l1

MMRRC Submission

043001-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R5436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100509508-100564093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100511698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 330 (A330S)

Gene Model

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

AlphaFold

Q3UPL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000094578
AA Change: A1144S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325
AA Change: A1144S

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

probably benign
Transcript: ENSMUST00000182002

Predicted Effect

probably benign
Transcript: ENSMUST00000182433
AA Change: A177S

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182664

Predicted Effect

probably damaging
Transcript: ENSMUST00000182812
AA Change: A330S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000182886
AA Change: A1105S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325
AA Change: A1105S

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

probably benign
Transcript: ENSMUST00000182988
AA Change: A847S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.1313

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (106/107)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	C	3: 59,754,114 (GRCm39)		noncoding transcript	Het
Abca9	G	A	11: 110,025,062 (GRCm39)	L994F	probably damaging	Het
Abl2	A	T	1: 156,457,450 (GRCm39)	S239C	probably damaging	Het
Acsl5	T	A	19: 55,267,997 (GRCm39)		probably null	Het
Aff1	C	T	5: 103,931,736 (GRCm39)	T126I	probably damaging	Het
Amtn	T	C	5: 88,529,485 (GRCm39)	L107P	probably damaging	Het
Ankrd45	A	G	1: 160,986,682 (GRCm39)		probably benign	Het
Arl6ip5	G	A	6: 97,187,887 (GRCm39)	V36I	probably damaging	Het
Ascc3	T	A	10: 50,535,079 (GRCm39)	D657E	probably damaging	Het
Ascl1	T	A	10: 87,328,808 (GRCm39)	Q48L	unknown	Het
Asic4	T	A	1: 75,427,963 (GRCm39)	V163E	probably benign	Het
Atm	A	T	9: 53,371,104 (GRCm39)	M2245K	probably benign	Het
Barx2	T	G	9: 31,824,285 (GRCm39)	T35P	probably damaging	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
C8b	T	A	4: 104,657,546 (GRCm39)	Y404*	probably null	Het
Car5a	A	G	8: 122,643,981 (GRCm39)		probably benign	Het
Ccdc13	T	C	9: 121,628,109 (GRCm39)	I169M	probably benign	Het
Cd163	A	T	6: 124,304,923 (GRCm39)	D1100V	probably benign	Het
Cimap2	A	T	4: 106,467,690 (GRCm39)	H315Q	probably benign	Het
Cntfr	T	C	4: 41,663,322 (GRCm39)	N162D	probably damaging	Het
Cops3	T	G	11: 59,715,171 (GRCm39)	D289A	probably damaging	Het
Crbn	A	T	6: 106,772,861 (GRCm39)	S42R	probably damaging	Het
Cth	T	A	3: 157,600,463 (GRCm39)	H397L	probably benign	Het
Dact2	A	G	17: 14,416,010 (GRCm39)	L730P	probably damaging	Het
Dhx37	C	T	5: 125,506,867 (GRCm39)	G210R	probably benign	Het
Dnaaf9	C	A	2: 130,606,419 (GRCm39)	K415N	probably benign	Het
Dnah1	T	C	14: 31,038,704 (GRCm39)	I126V	probably benign	Het
Dnttip2	T	C	3: 122,072,418 (GRCm39)	I566T	probably damaging	Het
Ehbp1l1	G	T	19: 5,766,276 (GRCm39)	R412S	possibly damaging	Het
Fam110b	A	C	4: 5,799,104 (GRCm39)	Q174P	probably benign	Het
Fam149a	A	T	8: 45,801,508 (GRCm39)	S457T	probably benign	Het
Fat3	A	C	9: 15,871,810 (GRCm39)	V3527G	probably benign	Het
Fat4	A	G	3: 38,945,495 (GRCm39)	M1463V	probably benign	Het
Gak	T	A	5: 108,740,218 (GRCm39)	I566F	possibly damaging	Het
Gdf10	T	A	14: 33,654,213 (GRCm39)	I240N	probably damaging	Het
Gprc6a	T	A	10: 51,502,798 (GRCm39)	H355L	probably benign	Het
Gxylt1	T	C	15: 93,145,780 (GRCm39)	K338R	probably damaging	Het
Hexim2	A	T	11: 103,029,095 (GRCm39)	E49V	probably null	Het
Hfm1	T	C	5: 107,040,638 (GRCm39)	D709G	possibly damaging	Het
Ighv1-49	T	C	12: 115,019,081 (GRCm39)	K19R	probably damaging	Het
Il17a	T	A	1: 20,803,870 (GRCm39)	Y88*	probably null	Het
Iqsec1	A	T	6: 90,822,343 (GRCm39)		probably benign	Het
Itih2	T	C	2: 10,110,007 (GRCm39)	D582G	probably benign	Het
Klc3	T	C	7: 19,131,884 (GRCm39)		probably null	Het
Larp4	T	A	15: 99,883,995 (GRCm39)	N78K	probably damaging	Het
Larp4b	A	G	13: 9,218,936 (GRCm39)	D526G	possibly damaging	Het
Limch1	T	C	5: 67,131,909 (GRCm39)	V133A	possibly damaging	Het
Lmbr1l	G	A	15: 98,802,672 (GRCm39)	R426C	probably damaging	Het
Lox	T	A	18: 52,662,175 (GRCm39)	D76V	probably benign	Het
Lrrc8d	T	A	5: 105,960,418 (GRCm39)	I276N	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Marchf10	A	T	11: 105,292,991 (GRCm39)	Y139N	possibly damaging	Het
Mrc1	T	G	2: 14,271,326 (GRCm39)	I410S	probably damaging	Het
Mrto4	A	T	4: 139,075,276 (GRCm39)	C176S	probably damaging	Het
Mtch1	G	T	17: 29,566,564 (GRCm39)	D66E	probably benign	Het
Nbas	T	G	12: 13,424,812 (GRCm39)	L1017R	probably damaging	Het
Nherf4	A	G	9: 44,159,652 (GRCm39)	V448A	possibly damaging	Het
Nim1k	A	G	13: 120,189,065 (GRCm39)		probably benign	Het
Nlrp6	T	A	7: 140,502,630 (GRCm39)	Y245*	probably null	Het
Or11g7	T	G	14: 50,691,184 (GRCm39)	V225G	probably damaging	Het
Or2t43	T	A	11: 58,457,763 (GRCm39)	H136L	probably benign	Het
Or4c3	T	A	2: 89,852,009 (GRCm39)	M134L	probably benign	Het
Or51q1	A	T	7: 103,628,473 (GRCm39)	I25F	probably benign	Het
Or5h24	C	T	16: 58,919,182 (GRCm39)	V58I	unknown	Het
Or8b1	A	C	9: 38,399,835 (GRCm39)	D170A	probably benign	Het
Pcare	A	T	17: 72,057,837 (GRCm39)	S613R	probably damaging	Het
Pcnx1	G	T	12: 81,907,180 (GRCm39)	G12V	probably damaging	Het
Pkp1	T	A	1: 135,846,656 (GRCm39)	K32M	probably damaging	Het
Poc5	T	C	13: 96,533,321 (GRCm39)	W150R	probably damaging	Het
Ppp1r16b	T	A	2: 158,599,253 (GRCm39)		probably benign	Het
Prune2	T	A	19: 16,998,007 (GRCm39)	M248K	probably damaging	Het
Rb1	A	T	14: 73,450,580 (GRCm39)		probably null	Het
Rhod	A	G	19: 4,476,615 (GRCm39)	C169R	probably benign	Het
Rif1	T	C	2: 52,010,983 (GRCm39)		probably benign	Het
Rnpc3	G	A	3: 113,418,648 (GRCm39)	A100V	probably damaging	Het
Rsf1	GCGGC	GCGGCGGCGTCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Scnn1a	A	T	6: 125,319,985 (GRCm39)	D528V	possibly damaging	Het
Sdhaf3	C	A	6: 7,038,855 (GRCm39)	T59K	probably benign	Het
Sgk3	A	G	1: 9,952,097 (GRCm39)	D241G	probably damaging	Het
Skint6	T	G	4: 112,953,788 (GRCm39)	I459L	probably benign	Het
Slco1a5	A	T	6: 142,200,118 (GRCm39)	V222E	probably damaging	Het
Slit3	T	A	11: 35,598,738 (GRCm39)	N1447K	probably benign	Het
Sorbs2	A	G	8: 46,249,038 (GRCm39)	H628R	probably damaging	Het
St6galnac2	A	G	11: 116,575,353 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,816,267 (GRCm39)	V667A	probably benign	Het
Tbx20	A	T	9: 24,681,016 (GRCm39)	Y159N	probably damaging	Het
Tmprss11b	T	A	5: 86,810,092 (GRCm39)	Q296L	probably benign	Het
Ttc6	T	A	12: 57,721,380 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,701,243 (GRCm39)		probably benign	Het
Tubgcp4	T	A	2: 121,018,617 (GRCm39)	L340H	probably damaging	Het
Tubgcp4	T	A	2: 121,024,663 (GRCm39)	F613I	probably benign	Het
Urb1	T	C	16: 90,589,650 (GRCm39)	Y377C	probably damaging	Het
Utp15	G	A	13: 98,397,354 (GRCm39)		probably null	Het
Vstm2b	A	G	7: 40,550,707 (GRCm39)		probably null	Het
Vwde	A	T	6: 13,190,627 (GRCm39)	V488D	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp276	A	T	8: 123,992,021 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,723,975 (GRCm39)	S1993T	possibly damaging	Het
Zfp959	T	C	17: 56,204,626 (GRCm39)	L218P	probably benign	Het
Zxdc	A	G	6: 90,347,542 (GRCm39)	D301G	probably 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
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
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'- CTCAATAATGAAGGAGCGCCAC -3'
(R):5'- AAGGCTGTTGGTTCTCTTCAC -3'

Sequencing Primer
(F):5'- CACATGTGTGCAGTGCCTTCAG -3'
(R):5'- GGTTCTCTTCACATAGAATCAGAAC -3'

Posted On

2016-09-01