Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Sec23a'

24991

Institutional Source

Beutler Lab

Gene Symbol

Sec23a

Ensembl Gene

ENSMUSG00000020986

Gene Name

SEC23 homolog A, COPII coat complex component

Synonyms

Sec23r, Msec23

MMRRC Submission

038518-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59005170-59058803 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 59053985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 4 (Y4*)

Ref Sequence

ENSEMBL: ENSMUSP00000126011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021375] [ENSMUST00000165134]

AlphaFold

Q01405

Predicted Effect

probably null
Transcript: ENSMUST00000021375
AA Change: Y4*

SMART Domains

Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: Y4*

Domain	Start	End	E-Value	Type
Pfam:zf-Sec23_Sec24	58	98	2.7e-17	PFAM
Pfam:Sec23_trunk	126	390	2e-81	PFAM
Pfam:Sec23_BS	401	504	3.2e-35	PFAM
Pfam:Sec23_helical	520	618	1e-30	PFAM
Pfam:Gelsolin	629	718	9.3e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134223

Predicted Effect

probably null
Transcript: ENSMUST00000165134
AA Change: Y4*

SMART Domains

Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: Y4*

Domain	Start	End	E-Value	Type
Pfam:zf-Sec23_Sec24	57	98	8.1e-16	PFAM
Pfam:Sec23_trunk	97	361	6.5e-84	PFAM
Pfam:Sec23_BS	372	475	3.8e-36	PFAM
Pfam:Sec23_helical	490	590	1.6e-38	PFAM
Pfam:Gelsolin	599	689	2.7e-17	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die during mid-embryogenesis exhibiting defects in neural tube closure and extraembryonic membrane formation as well as broad secretion defects of multiple collagen species in different tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989 (GRCm39)	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,859,007 (GRCm39)		probably benign	Het
Abcc12	C	T	8: 87,284,381 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,311,646 (GRCm39)	E1301G	probably damaging	Het
Adh4	A	T	3: 138,129,863 (GRCm39)	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,508,954 (GRCm39)	M109L	probably benign	Het
Angpt2	T	C	8: 18,742,141 (GRCm39)	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,820 (GRCm39)	D301E	probably benign	Het
Armc10	G	A	5: 21,852,295 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,365,773 (GRCm39)		probably null	Het
Atp5f1b	T	C	10: 127,921,908 (GRCm39)	V265A	probably benign	Het
Atp8b1	G	T	18: 64,678,315 (GRCm39)	C860*	probably null	Het
Atrnl1	T	G	19: 57,741,720 (GRCm39)	S1160A	probably benign	Het
Bmal1	A	T	7: 112,890,743 (GRCm39)	I179F	probably damaging	Het
Cep55	A	G	19: 38,048,659 (GRCm39)	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,721,226 (GRCm39)	D2502Y	unknown	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clptm1l	A	G	13: 73,759,786 (GRCm39)	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,673,024 (GRCm39)	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,766,432 (GRCm39)	I388F	probably damaging	Het
Dars1	C	T	1: 128,291,996 (GRCm39)	R494H	probably damaging	Het
Dna2	T	C	10: 62,792,753 (GRCm39)	V256A	probably damaging	Het
Dock7	T	C	4: 98,873,051 (GRCm39)	T1132A	probably benign	Het
Dpcd	T	G	19: 45,565,445 (GRCm39)	F140V	probably damaging	Het
Elk3	A	T	10: 93,101,067 (GRCm39)	M228K	probably benign	Het
Erich6	A	G	3: 58,543,525 (GRCm39)	F182L	probably damaging	Het
Fhad1	A	G	4: 141,712,904 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,198,947 (GRCm39)		probably benign	Het
Fzd9	A	T	5: 135,278,260 (GRCm39)	C542S	probably damaging	Het
Gba1	A	G	3: 89,115,671 (GRCm39)	T460A	probably benign	Het
Gli2	C	T	1: 118,769,792 (GRCm39)	A587T	probably benign	Het
Gm11011	C	T	2: 169,424,614 (GRCm39)		probably benign	Het
Gmppb	A	G	9: 107,927,033 (GRCm39)	E68G	probably benign	Het
Gpld1	A	G	13: 25,146,818 (GRCm39)	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,263,552 (GRCm39)	S900L	probably damaging	Het
Idi2l	T	G	13: 8,990,877 (GRCm39)		probably benign	Het
Ints6l	A	T	X: 55,526,715 (GRCm39)	M215L	possibly damaging	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Itga10	T	C	3: 96,558,780 (GRCm39)	S373P	probably damaging	Het
Jak1	T	C	4: 101,011,732 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,289,157 (GRCm39)	T1103I	probably benign	Het
Katnal1	A	T	5: 148,815,734 (GRCm39)	V401D	possibly damaging	Het
Krbox5	A	G	13: 67,991,232 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,313,326 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,710,738 (GRCm39)	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 46,959,766 (GRCm39)	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584 (GRCm39)	A55T	probably benign	Het
Opa1	G	A	16: 29,440,349 (GRCm39)	R818Q	probably damaging	Het
Opn4	T	C	14: 34,319,081 (GRCm39)	Y168C	possibly damaging	Het
Or8b35	A	G	9: 37,904,141 (GRCm39)	I118V	probably benign	Het
Phf21a	T	C	2: 92,161,122 (GRCm39)	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,484,423 (GRCm39)		probably benign	Het
Plcb1	T	G	2: 134,655,534 (GRCm39)	V38G	probably benign	Het
Plxna4	T	A	6: 32,214,703 (GRCm39)	T593S	probably benign	Het
Poll	A	T	19: 45,544,404 (GRCm39)	I339N	probably damaging	Het
Rev3l	A	G	10: 39,700,890 (GRCm39)	I1796V	probably benign	Het
Rnf103	G	A	6: 71,486,686 (GRCm39)	R439H	probably damaging	Het
Rrn3	G	A	16: 13,617,746 (GRCm39)		probably benign	Het
Sec14l4	G	A	11: 3,991,726 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,040,265 (GRCm39)		probably null	Het
Serpinb6b	A	T	13: 33,162,220 (GRCm39)	N221Y	probably benign	Het
Slc6a2	A	G	8: 93,687,988 (GRCm39)	E38G	possibly damaging	Het
Smap1	A	T	1: 23,888,423 (GRCm39)	L196I	probably damaging	Het
Sorbs2	C	T	8: 46,248,167 (GRCm39)	Q473*	probably null	Het
Sphkap	C	A	1: 83,254,690 (GRCm39)	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,621,614 (GRCm39)	V225A	probably benign	Het
Srprb	G	A	9: 103,079,204 (GRCm39)	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,545,187 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,139,306 (GRCm39)	I162N	probably benign	Het
Tmem237	C	A	1: 59,146,676 (GRCm39)	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,983,011 (GRCm39)	F884L	probably damaging	Het
Trim7	A	G	11: 48,740,328 (GRCm39)	T142A	probably damaging	Het
Ttn	T	A	2: 76,616,024 (GRCm39)	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,006,639 (GRCm39)	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,978,774 (GRCm39)	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,388,400 (GRCm39)	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,843,697 (GRCm39)	D247G	probably damaging	Het
Usp43	G	A	11: 67,770,966 (GRCm39)	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638 (GRCm39)	H440L	probably benign	Het
Zfp518b	C	T	5: 38,830,113 (GRCm39)	E631K	possibly damaging	Het

Other mutations in Sec23a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Sec23a	APN	12	59,039,068 (GRCm39)	missense	possibly damaging	0.47
IGL01836:Sec23a	APN	12	59,018,073 (GRCm39)	missense	probably damaging	0.98
IGL01906:Sec23a	APN	12	59,053,830 (GRCm39)	missense	probably damaging	1.00
IGL02383:Sec23a	APN	12	59,048,813 (GRCm39)	missense	probably damaging	1.00
IGL02507:Sec23a	APN	12	59,053,884 (GRCm39)	missense	probably benign	0.34
IGL02816:Sec23a	APN	12	59,025,331 (GRCm39)	missense	probably benign	0.03
IGL03060:Sec23a	APN	12	59,032,891 (GRCm39)	missense	probably benign
R0361:Sec23a	UTSW	12	59,037,804 (GRCm39)	missense	probably damaging	1.00
R0546:Sec23a	UTSW	12	59,031,953 (GRCm39)	missense	probably benign	0.07
R0720:Sec23a	UTSW	12	59,018,057 (GRCm39)	missense	probably damaging	1.00
R1084:Sec23a	UTSW	12	59,031,921 (GRCm39)	missense	probably damaging	0.97
R1156:Sec23a	UTSW	12	59,048,622 (GRCm39)	missense	probably benign
R1438:Sec23a	UTSW	12	59,048,796 (GRCm39)	missense	probably damaging	0.98
R1446:Sec23a	UTSW	12	59,025,345 (GRCm39)	missense	probably damaging	1.00
R1526:Sec23a	UTSW	12	59,032,972 (GRCm39)	splice site	probably null
R1705:Sec23a	UTSW	12	59,048,652 (GRCm39)	missense	possibly damaging	0.95
R1997:Sec23a	UTSW	12	59,048,793 (GRCm39)	missense	probably benign
R2051:Sec23a	UTSW	12	59,037,754 (GRCm39)	splice site	probably null
R2081:Sec23a	UTSW	12	59,045,067 (GRCm39)	nonsense	probably null
R4201:Sec23a	UTSW	12	59,048,791 (GRCm39)	missense	probably benign	0.00
R4706:Sec23a	UTSW	12	59,029,372 (GRCm39)	missense	probably damaging	0.98
R4724:Sec23a	UTSW	12	59,025,292 (GRCm39)	missense	probably damaging	0.99
R4969:Sec23a	UTSW	12	59,051,274 (GRCm39)	critical splice donor site	probably null
R5375:Sec23a	UTSW	12	59,053,791 (GRCm39)	missense	probably benign	0.15
R5858:Sec23a	UTSW	12	59,019,821 (GRCm39)	missense	probably damaging	0.98
R6539:Sec23a	UTSW	12	59,031,998 (GRCm39)	missense	probably benign	0.00
R6558:Sec23a	UTSW	12	59,051,338 (GRCm39)	missense	probably benign	0.03
R6616:Sec23a	UTSW	12	59,043,941 (GRCm39)	missense	possibly damaging	0.95
R6716:Sec23a	UTSW	12	59,015,609 (GRCm39)	missense	probably benign	0.09
R7078:Sec23a	UTSW	12	59,039,069 (GRCm39)	missense	probably benign	0.07
R7155:Sec23a	UTSW	12	59,036,229 (GRCm39)	missense	probably benign	0.03
R7367:Sec23a	UTSW	12	59,013,785 (GRCm39)	missense	probably benign
R7923:Sec23a	UTSW	12	59,039,033 (GRCm39)	missense	probably damaging	0.99
R8178:Sec23a	UTSW	12	59,053,980 (GRCm39)	missense	possibly damaging	0.93
R8557:Sec23a	UTSW	12	59,052,056 (GRCm39)	missense	probably damaging	0.96
R8839:Sec23a	UTSW	12	59,037,781 (GRCm39)	missense	possibly damaging	0.79
R9141:Sec23a	UTSW	12	59,053,890 (GRCm39)	missense	probably benign	0.42
R9213:Sec23a	UTSW	12	59,048,708 (GRCm39)	missense	probably damaging	1.00
R9426:Sec23a	UTSW	12	59,053,890 (GRCm39)	missense	probably benign	0.42
R9508:Sec23a	UTSW	12	59,036,185 (GRCm39)	missense	probably benign	0.00
R9520:Sec23a	UTSW	12	59,031,974 (GRCm39)	missense	probably benign
R9562:Sec23a	UTSW	12	59,048,817 (GRCm39)	missense	possibly damaging	0.94
R9608:Sec23a	UTSW	12	59,019,804 (GRCm39)	missense	probably benign
R9797:Sec23a	UTSW	12	59,052,060 (GRCm39)	nonsense	probably null
Z1088:Sec23a	UTSW	12	59,051,362 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAAACTGCACGGCAAGTGGTCC -3'
(R):5'- TGGTCTCCTGGAAAGTCTGATGAGAAC -3'

Sequencing Primer
(F):5'- CAAGTGGTCCTACTGCACAG -3'
(R):5'- gcacctcagttctctccctc -3'

Posted On

2013-04-16