Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Sec23a'

160797

Institutional Source

Beutler Lab

Gene Symbol

Sec23a

Ensembl Gene

ENSMUSG00000020986

Gene Name

SEC23 homolog A, COPII coat complex component

Synonyms

Sec23r, Msec23

MMRRC Submission

039493-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R1438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59005170-59058803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59048796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 109 (C109S)

Ref Sequence

ENSEMBL: ENSMUSP00000126011 (fasta)

Gene Model

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

AlphaFold

Q01405

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021375
AA Change: C138S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: C138S

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 damaging
Transcript: ENSMUST00000165134
AA Change: C109S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: C109S

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

0.8899

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,552,871 (GRCm39)	I67F	probably damaging	Het
Adam24	A	T	8: 41,134,431 (GRCm39)	N633I	probably benign	Het
Adgrg6	T	C	10: 14,344,585 (GRCm39)	S123G	possibly damaging	Het
Afdn	T	A	17: 14,075,652 (GRCm39)	F940L	probably damaging	Het
Ahrr	A	T	13: 74,372,987 (GRCm39)	Y26*	probably null	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Aox3	A	T	1: 58,192,337 (GRCm39)	T536S	probably benign	Het
Boc	A	T	16: 44,309,109 (GRCm39)		probably null	Het
Cchcr1	T	C	17: 35,841,457 (GRCm39)		probably null	Het
Cct2	A	T	10: 116,890,897 (GRCm39)		probably benign	Het
Cd84	A	T	1: 171,679,685 (GRCm39)	Y121F	probably damaging	Het
Cecr2	T	A	6: 120,738,433 (GRCm39)	C275*	probably null	Het
Chchd3	C	A	6: 32,985,503 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,007,971 (GRCm39)		probably benign	Het
Col5a3	T	C	9: 20,691,253 (GRCm39)	K1131E	probably damaging	Het
Dek	A	T	13: 47,241,647 (GRCm39)	S306T	probably benign	Het
Dhx32	T	C	7: 133,339,069 (GRCm39)	E322G	possibly damaging	Het
Dlg5	T	A	14: 24,204,673 (GRCm39)	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,876,009 (GRCm39)	N2559S	probably benign	Het
Dnajc3	A	G	14: 119,205,518 (GRCm39)	T171A	probably benign	Het
Eftud2	G	T	11: 102,750,868 (GRCm39)	F308L	probably damaging	Het
Elp6	T	C	9: 110,143,123 (GRCm39)	F95S	probably damaging	Het
Emsy	C	T	7: 98,270,613 (GRCm39)	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,338,298 (GRCm39)	M362K	probably damaging	Het
Fat2	A	T	11: 55,178,637 (GRCm39)	D1474E	probably damaging	Het
Fcgbp	T	A	7: 27,803,158 (GRCm39)	C1587*	probably null	Het
Fosl2	T	A	5: 32,304,329 (GRCm39)	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,198,621 (GRCm39)	D381G	probably benign	Het
Golim4	A	C	3: 75,863,440 (GRCm39)	S56A	probably damaging	Het
Gpr39	T	C	1: 125,800,093 (GRCm39)		probably benign	Het
Gucy1b2	T	C	14: 62,651,770 (GRCm39)	I409V	probably damaging	Het
Hivep1	A	G	13: 42,311,596 (GRCm39)	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,596,569 (GRCm39)	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,077,691 (GRCm39)	I498F	possibly damaging	Het
Kctd21	T	A	7: 96,996,704 (GRCm39)	I59N	probably damaging	Het
Lama5	T	A	2: 179,824,593 (GRCm39)	T2577S	probably benign	Het
Mief2	G	T	11: 60,621,140 (GRCm39)	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705 (GRCm39)	V442A	probably benign	Het
Nkapd1	C	A	9: 50,518,972 (GRCm39)	K213N	possibly damaging	Het
Nrxn3	C	T	12: 90,298,909 (GRCm39)	R477W	probably damaging	Het
Or12e7	A	G	2: 87,288,336 (GRCm39)	T276A	probably benign	Het
Or7a41	T	A	10: 78,871,122 (GRCm39)	V164E	possibly damaging	Het
Parp1	A	G	1: 180,418,807 (GRCm39)	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,631,015 (GRCm39)	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,101,142 (GRCm39)	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,318,124 (GRCm39)	E248G	probably benign	Het
Prtg	C	T	9: 72,818,032 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,818,529 (GRCm39)	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,092,109 (GRCm39)	V369A	probably damaging	Het
Rai1	T	G	11: 60,076,221 (GRCm39)	V95G	probably benign	Het
Rasal3	T	A	17: 32,612,509 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,260,961 (GRCm39)	E195G	probably benign	Het
Rhbdd3	T	A	11: 5,053,332 (GRCm39)	L44Q	probably damaging	Het
Ripply2	T	C	9: 86,901,713 (GRCm39)	W80R	probably damaging	Het
Rnf183	A	G	4: 62,346,760 (GRCm39)	C13R	probably damaging	Het
Rorb	A	G	19: 18,932,417 (GRCm39)	L367P	probably damaging	Het
Rpl7a-ps5	C	T	17: 58,146,135 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,114,581 (GRCm39)	N647D	probably benign	Het
Rtn1	A	T	12: 72,351,187 (GRCm39)	S341T	probably damaging	Het
Ryr3	T	C	2: 112,588,046 (GRCm39)	S2632G	probably benign	Het
Scube1	A	G	15: 83,499,227 (GRCm39)	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,024,078 (GRCm39)	I723F	probably damaging	Het
Septin11	T	C	5: 93,296,287 (GRCm39)	F60L	probably damaging	Het
Sgf29	G	A	7: 126,271,063 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,413,308 (GRCm39)		probably benign	Het
Smo	G	A	6: 29,755,482 (GRCm39)	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,000,837 (GRCm39)	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,422 (GRCm39)	H213L	possibly damaging	Het
Thoc5	A	T	11: 4,861,427 (GRCm39)		probably benign	Het
Tmem33	T	A	5: 67,424,634 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,546,247 (GRCm39)	L78P	probably damaging	Het
Uvssa	T	A	5: 33,571,228 (GRCm39)		probably benign	Het
Vmn2r50	A	T	7: 9,784,062 (GRCm39)	C137*	probably null	Het
Vmn2r81	A	G	10: 79,129,691 (GRCm39)	T861A	probably benign	Het
Wnt3	A	T	11: 103,699,077 (GRCm39)	N61I	probably damaging	Het
Zswim9	A	G	7: 13,011,144 (GRCm39)	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,803,771 (GRCm39)	I2535T	probably 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
R0308:Sec23a	UTSW	12	59,053,985 (GRCm39)	nonsense	probably null
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
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'- GCAGTTGTTTGGCAGACAGATCCTTTG -3'
(R):5'- TCTCCAGGACCACACATGGCATGTTTC -3'

Sequencing Primer
(F):5'- GATCCTTTGTTCCTCTGAAGACATAG -3'
(R):5'- ACACATGGCATGTTTCATTTCTG -3'

Posted On

2014-03-14