Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Sec23a'

224394

Institutional Source

Beutler Lab

Gene Symbol

Sec23a

Ensembl Gene

ENSMUSG00000020986

Gene Name

SEC23 homolog A, COPII coat complex component

Synonyms

Sec23r, Msec23

MMRRC Submission

040007-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58958383-59012017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59002007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 110 (I110L)

Ref Sequence

ENSEMBL: ENSMUSP00000126011 (fasta)

Gene Model

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

AlphaFold

Q01405

Predicted Effect

probably benign
Transcript: ENSMUST00000021375
AA Change: I139L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: I139L

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 benign
Transcript: ENSMUST00000165134
AA Change: I110L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: I110L

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Sec23a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Sec23a	APN	12	58992282	missense	possibly damaging	0.47
IGL01836:Sec23a	APN	12	58971287	missense	probably damaging	0.98
IGL01906:Sec23a	APN	12	59007044	missense	probably damaging	1.00
IGL02383:Sec23a	APN	12	59002027	missense	probably damaging	1.00
IGL02507:Sec23a	APN	12	59007098	missense	probably benign	0.34
IGL02816:Sec23a	APN	12	58978545	missense	probably benign	0.03
IGL03060:Sec23a	APN	12	58986105	missense	probably benign
R0308:Sec23a	UTSW	12	59007199	nonsense	probably null
R0361:Sec23a	UTSW	12	58991018	missense	probably damaging	1.00
R0546:Sec23a	UTSW	12	58985167	missense	probably benign	0.07
R0720:Sec23a	UTSW	12	58971271	missense	probably damaging	1.00
R1084:Sec23a	UTSW	12	58985135	missense	probably damaging	0.97
R1156:Sec23a	UTSW	12	59001836	missense	probably benign
R1438:Sec23a	UTSW	12	59002010	missense	probably damaging	0.98
R1446:Sec23a	UTSW	12	58978559	missense	probably damaging	1.00
R1526:Sec23a	UTSW	12	58986186	splice site	probably null
R1705:Sec23a	UTSW	12	59001866	missense	possibly damaging	0.95
R2051:Sec23a	UTSW	12	58990968	splice site	probably null
R2081:Sec23a	UTSW	12	58998281	nonsense	probably null
R4201:Sec23a	UTSW	12	59002005	missense	probably benign	0.00
R4706:Sec23a	UTSW	12	58982586	missense	probably damaging	0.98
R4724:Sec23a	UTSW	12	58978506	missense	probably damaging	0.99
R4969:Sec23a	UTSW	12	59004488	critical splice donor site	probably null
R5375:Sec23a	UTSW	12	59007005	missense	probably benign	0.15
R5858:Sec23a	UTSW	12	58973035	missense	probably damaging	0.98
R6539:Sec23a	UTSW	12	58985212	missense	probably benign	0.00
R6558:Sec23a	UTSW	12	59004552	missense	probably benign	0.03
R6616:Sec23a	UTSW	12	58997155	missense	possibly damaging	0.95
R6716:Sec23a	UTSW	12	58968823	missense	probably benign	0.09
R7078:Sec23a	UTSW	12	58992283	missense	probably benign	0.07
R7155:Sec23a	UTSW	12	58989443	missense	probably benign	0.03
R7367:Sec23a	UTSW	12	58966999	missense	probably benign
R7923:Sec23a	UTSW	12	58992247	missense	probably damaging	0.99
R8178:Sec23a	UTSW	12	59007194	missense	possibly damaging	0.93
R8557:Sec23a	UTSW	12	59005270	missense	probably damaging	0.96
R8839:Sec23a	UTSW	12	58990995	missense	possibly damaging	0.79
R9141:Sec23a	UTSW	12	59007104	missense	probably benign	0.42
R9213:Sec23a	UTSW	12	59001922	missense	probably damaging	1.00
R9426:Sec23a	UTSW	12	59007104	missense	probably benign	0.42
R9508:Sec23a	UTSW	12	58989399	missense	probably benign	0.00
R9520:Sec23a	UTSW	12	58985188	missense	probably benign
R9562:Sec23a	UTSW	12	59002031	missense	possibly damaging	0.94
R9608:Sec23a	UTSW	12	58973018	missense	probably benign
R9797:Sec23a	UTSW	12	59005274	nonsense	probably null
Z1088:Sec23a	UTSW	12	59004576	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGCAGTTGTTTGGCAGACAG -3'
(R):5'- TCTCTCCAGGACCACACATG -3'

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

Posted On

2014-08-25