Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Sec23a'

557247

Institutional Source

Beutler Lab

Gene Symbol

Sec23a

Ensembl Gene

ENSMUSG00000020986

Gene Name

SEC23 homolog A, COPII coat complex component

Synonyms

Sec23r, Msec23

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

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

Stock #

R7155 (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 T at 59036229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 378 (N378K)

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: N378K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: N378K

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: N349K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: N349K

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: 99.7%
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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bak1	A	G	17: 27,241,434 (GRCm39)	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Colgalt1	T	C	8: 72,076,354 (GRCm39)	S602P	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Kpna4	G	T	3: 68,997,266 (GRCm39)	P336Q	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nf2	A	G	11: 4,749,964 (GRCm39)	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Phc3	T	C	3: 30,968,346 (GRCm39)	I897V	probably benign	Het
Plcg1	T	C	2: 160,596,300 (GRCm39)	L632P	probably damaging	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Rtkn	G	A	6: 83,126,692 (GRCm39)	C297Y	probably damaging	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	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
R7078:Sec23a	UTSW	12	59,039,069 (GRCm39)	missense	probably benign	0.07
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'- AATATTTCACAGTTACCACCGC -3'
(R):5'- AGAAAATCTGGCTGTGGGC -3'

Sequencing Primer
(F):5'- GCCTTCAAGGGTCTCAACTGATAG -3'
(R):5'- GAACACTGTGTCATGTGCAC -3'

Posted On

2019-06-26