Mutagenetix > Incidental Mutation

Incidental Mutation 'R7078:Sec23a'

549367

Institutional Source

Beutler Lab

Gene Symbol

Sec23a

Ensembl Gene

ENSMUSG00000020986

Gene Name

SEC23 homolog A, COPII coat complex component

Synonyms

Sec23r, Msec23

Accession Numbers

Essential gene?

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

Stock #

R7078 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59005170-59058803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59039069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 277 (C277R)

Ref Sequence

ENSEMBL: ENSMUSP00000021375 (fasta)

Gene Model

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

AlphaFold

Q01405

Predicted Effect

probably benign
Transcript: ENSMUST00000021375
AA Change: C277R

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: C277R

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

probably benign
Transcript: ENSMUST00000165134
AA Change: C248R

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: C248R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,154,138 (GRCm39)	R953Q	possibly damaging	Het
Aldh1a1	A	T	19: 20,579,434 (GRCm39)	H20L	probably benign	Het
Ankrd52	T	A	10: 128,219,526 (GRCm39)	C487S	probably benign	Het
Ap1s3	T	C	1: 79,602,845 (GRCm39)	E54G	probably benign	Het
Arglu1	A	C	8: 8,717,361 (GRCm39)	M236R	probably benign	Het
Baz1b	T	A	5: 135,246,293 (GRCm39)	F581I	probably benign	Het
Bbox1	T	G	2: 110,122,884 (GRCm39)	D135A	probably benign	Het
Bcl2l14	T	A	6: 134,400,786 (GRCm39)	V69E	probably damaging	Het
Brinp3	C	T	1: 146,390,627 (GRCm39)	Q58*	probably null	Het
Ccnb1ip1	T	A	14: 51,029,724 (GRCm39)	K113*	probably null	Het
Cep128	T	C	12: 91,200,878 (GRCm39)	I830M	probably damaging	Het
Ces2f	C	T	8: 105,681,284 (GRCm39)	T541I	probably damaging	Het
Chsy3	C	A	18: 59,309,149 (GRCm39)	P134Q	possibly damaging	Het
Cobl	T	G	11: 12,328,271 (GRCm39)	T112P	probably damaging	Het
Cplane2	A	T	4: 140,947,159 (GRCm39)	Y180F	probably benign	Het
Dcc	T	A	18: 71,680,469 (GRCm39)	K589I	probably benign	Het
Depdc1b	T	A	13: 108,523,505 (GRCm39)	I460K	possibly damaging	Het
Dlst	T	C	12: 85,157,705 (GRCm39)	F12S	probably benign	Het
Dnah1	G	C	14: 31,019,067 (GRCm39)	F1342L	probably damaging	Het
Dtnb	A	G	12: 3,798,480 (GRCm39)	Q438R	possibly damaging	Het
Dusp4	C	A	8: 35,275,065 (GRCm39)	S61R	probably damaging	Het
E130308A19Rik	A	G	4: 59,737,688 (GRCm39)	Y433C	probably damaging	Het
Ebf2	T	C	14: 67,661,407 (GRCm39)	S512P	probably benign	Het
Elapor2	A	G	5: 9,460,709 (GRCm39)	N210S	probably benign	Het
Eya1	C	T	1: 14,301,636 (GRCm39)		probably null	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fzr1	T	A	10: 81,204,463 (GRCm39)	D379V	probably damaging	Het
Gk2	T	A	5: 97,604,195 (GRCm39)	E214D	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gmnc	A	T	16: 26,779,272 (GRCm39)	V251E	probably benign	Het
Golga3	A	G	5: 110,340,953 (GRCm39)	Q549R	probably damaging	Het
Gsdmd	T	G	15: 75,736,204 (GRCm39)	V111G	probably damaging	Het
Gtf3c1	T	C	7: 125,244,914 (GRCm39)	T1707A	possibly damaging	Het
Gucy2c	C	T	6: 136,674,937 (GRCm39)	V1049M	probably benign	Het
Gucy2g	A	G	19: 55,229,583 (GRCm39)	V29A	probably damaging	Het
Hecw1	A	T	13: 14,609,044 (GRCm39)	M1K	probably null	Het
Hmcn1	T	C	1: 150,736,118 (GRCm39)	D117G	probably damaging	Het
Ifnab	T	A	4: 88,609,350 (GRCm39)	T39S	possibly damaging	Het
Lcorl	A	G	5: 45,904,566 (GRCm39)	Y171H	probably damaging	Het
Ly6g6c	C	T	17: 35,288,437 (GRCm39)	P103L	probably damaging	Het
Macf1	T	G	4: 123,325,936 (GRCm39)	E5189A	probably damaging	Het
Mapkap1	A	G	2: 34,453,151 (GRCm39)	E348G	probably damaging	Het
Med25	G	T	7: 44,534,325 (GRCm39)	A280D	probably damaging	Het
Mep1b	C	A	18: 21,233,108 (GRCm39)	A703E	probably benign	Het
Morn5	T	A	2: 35,944,990 (GRCm39)	N71K	probably benign	Het
Mtmr10	T	A	7: 63,970,375 (GRCm39)	Y373N	possibly damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ncbp1	G	C	4: 46,155,756 (GRCm39)	V302L	probably benign	Het
Notch4	A	G	17: 34,801,520 (GRCm39)	T1123A	possibly damaging	Het
Nudt18	T	A	14: 70,816,452 (GRCm39)	M88K	possibly damaging	Het
Or12k8	A	G	2: 36,975,608 (GRCm39)	S51P	possibly damaging	Het
Or5b100-ps1	A	T	19: 12,994,097 (GRCm39)	D170V	possibly damaging	Het
Or6d12	T	A	6: 116,493,632 (GRCm39)	L298Q	probably damaging	Het
Or8g4	A	T	9: 39,661,787 (GRCm39)	Y35F	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,953 (GRCm39)	N694S	probably benign	Het
Pecam1	T	A	11: 106,579,773 (GRCm39)	T430S	probably benign	Het
Plaa	T	G	4: 94,462,288 (GRCm39)	T530P	probably benign	Het
Ppfia3	G	T	7: 45,010,019 (GRCm39)	Q95K	probably damaging	Het
Ppp4r2	T	C	6: 100,843,274 (GRCm39)	S331P	probably benign	Het
Prg4	T	C	1: 150,334,014 (GRCm39)	T117A	possibly damaging	Het
Prrc2b	A	T	2: 32,103,531 (GRCm39)	D1003V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rasef	T	C	4: 73,698,626 (GRCm39)	I12V	probably benign	Het
Robo2	T	G	16: 74,149,504 (GRCm39)	Y108S	probably damaging	Het
Rp1	T	A	1: 4,277,014 (GRCm39)	E762V	unknown	Het
Rsrc1	T	C	3: 66,901,987 (GRCm39)	S46P	unknown	Het
Rttn	A	T	18: 89,027,546 (GRCm39)	T554S	probably benign	Het
Sall3	C	T	18: 81,017,314 (GRCm39)	V205M	probably damaging	Het
Scn3a	C	A	2: 65,327,944 (GRCm39)	V849L	probably damaging	Het
Sf3b3	C	T	8: 111,539,639 (GRCm39)	A1075T	possibly damaging	Het
Sfxn5	T	C	6: 85,309,366 (GRCm39)	D113G	unknown	Het
Slc22a22	C	T	15: 57,126,876 (GRCm39)	M64I	probably benign	Het
Slc5a11	C	T	7: 122,857,669 (GRCm39)	P253S	probably damaging	Het
Smarcd3	A	G	5: 24,798,067 (GRCm39)	F449S	probably damaging	Het
Sspo	C	T	6: 48,437,313 (GRCm39)	T1357M	probably damaging	Het
Styx	C	T	14: 45,609,873 (GRCm39)	T179I	probably benign	Het
Syt7	A	T	19: 10,412,963 (GRCm39)	T297S	probably benign	Het
Tbx19	T	A	1: 164,988,135 (GRCm39)		probably benign	Het
Tg	T	A	15: 66,545,392 (GRCm39)	V149E	probably damaging	Het
Tgfbr3l	T	A	8: 4,299,238 (GRCm39)	L35Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem219	T	A	7: 126,490,975 (GRCm39)	T161S	probably damaging	Het
Tox2	T	A	2: 163,162,501 (GRCm39)	L68H		Het
Trim5	T	A	7: 103,927,681 (GRCm39)	D153V	possibly damaging	Het
Ttn	T	C	2: 76,580,651 (GRCm39)	Y23414C	probably damaging	Het
Ttn	A	T	2: 76,582,153 (GRCm39)	N22913K	probably damaging	Het
Ubr2	A	C	17: 47,266,779 (GRCm39)	M1124R	possibly damaging	Het
Vmn2r75	A	G	7: 85,815,568 (GRCm39)	S99P	probably damaging	Het
Wdr83	T	C	8: 85,802,680 (GRCm39)	D219G	probably damaging	Het
Wdr90	C	T	17: 26,068,623 (GRCm39)	V1285M	probably damaging	Het
Zmynd15	A	T	11: 70,351,581 (GRCm39)	L62F	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
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
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'- TGTGACGTTACACAAACAGAAAACTC -3'
(R):5'- TCCAAATAAATGTCTTCCTTTTAGCA -3'

Sequencing Primer
(F):5'- GTTACACAAACAGAAAACTCACAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2019-05-15