Mutagenetix > Incidental Mutations

Incidental Mutation 'R2271:Sec24a'

242494

Institutional Source

Beutler Lab

Gene Symbol

Sec24a

Ensembl Gene

ENSMUSG00000036391

Gene Name

Sec24 related gene family, member A (S. cerevisiae)

Synonyms

9430090N21Rik

MMRRC Submission

040271-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51692264-51763634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51716450 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 656 (S656P)

Ref Sequence

ENSEMBL: ENSMUSP00000104725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038210] [ENSMUST00000109097]

Predicted Effect

probably benign
Transcript: ENSMUST00000038210
AA Change: S655P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: S655P

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
low complexity region	71	84	N/A	INTRINSIC
low complexity region	196	235	N/A	INTRINSIC
low complexity region	396	414	N/A	INTRINSIC
Pfam:zf-Sec23_Sec24	423	461	8e-19	PFAM
Pfam:Sec23_trunk	497	735	1.2e-87	PFAM
Pfam:Sec23_BS	740	824	1.1e-23	PFAM
Pfam:Sec23_helical	836	938	5.1e-27	PFAM
Pfam:Gelsolin	960	1035	7.2e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109097
AA Change: S656P

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: S656P

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
low complexity region	71	84	N/A	INTRINSIC
low complexity region	196	235	N/A	INTRINSIC
low complexity region	396	414	N/A	INTRINSIC
Pfam:zf-Sec23_Sec24	425	462	2.4e-16	PFAM
Pfam:Sec23_trunk	498	736	7.8e-87	PFAM
Pfam:Sec23_BS	741	825	1.1e-22	PFAM
Pfam:Sec23_helical	838	938	6.9e-28	PFAM
Pfam:Gelsolin	961	1036	9.3e-14	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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 belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased circulating cholesterol level, decreased circulating LDL cholesterol level, and abnormal liver physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,981,579	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,558,873	K574*	probably null	Het
Adam22	T	C	5: 8,121,108	E614G	probably damaging	Het
Ap4e1	T	C	2: 127,047,163		probably null	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094	S611C	probably damaging	Het
Birc6	T	C	17: 74,602,971	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,399,721	D40Y	probably benign	Het
Ccdc83	C	T	7: 90,224,077	V357I	probably damaging	Het
Cdh22	A	T	2: 165,143,847		probably null	Het
Cdk5rap2	A	C	4: 70,266,678	S1178R	probably benign	Het
Cdkl3	T	C	11: 52,032,495	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532	D612G	probably damaging	Het
Chst11	T	C	10: 83,191,170	Y144H	probably damaging	Het
Cops6	A	T	5: 138,161,141	N10I	probably benign	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Cyp27a1	A	G	1: 74,736,687	N344D	probably damaging	Het
Des	T	G	1: 75,363,493	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883	D109V	probably damaging	Het
Disp3	C	T	4: 148,271,602	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,975,129	I2136F	probably benign	Het
Dnah9	T	C	11: 66,112,362	D872G	probably benign	Het
Dnajb14	G	A	3: 137,885,380	G31S	probably benign	Het
Dopey1	T	G	9: 86,494,418	V235G	probably damaging	Het
Efcab6	T	A	15: 83,946,999	R571S	probably benign	Het
Emsy	T	G	7: 98,626,623	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fgfbp1	T	A	5: 43,979,330	M207L	probably benign	Het
Filip1	T	C	9: 79,819,930	E469G	probably damaging	Het
Garem2	T	G	5: 30,116,974	L777R	probably damaging	Het
Gm8394	A	G	10: 85,313,731		noncoding transcript	Het
Gm884	T	C	11: 103,614,207	T2312A	possibly damaging	Het
Hkdc1	T	C	10: 62,417,898	T35A	probably benign	Het
Hps6	C	T	19: 46,005,682	A686V	possibly damaging	Het
Irs1	T	C	1: 82,288,459	S679G	probably benign	Het
Ism1	T	A	2: 139,757,373	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,064,088		probably null	Het
Kpna1	G	A	16: 36,031,221	A392T	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Mocs1	A	T	17: 49,449,109	K198M	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msh5	A	G	17: 35,044,390	I154T	probably benign	Het
Muc6	T	A	7: 141,637,510	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347	R359L	probably benign	Het
Neu3	G	C	7: 99,813,443	R358G	probably benign	Het
Ntrk3	A	C	7: 78,516,723		probably null	Het
Olfr1045	A	G	2: 86,197,817	F312L	probably benign	Het
Olfr351	G	A	2: 36,859,625	S241F	probably damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
Pik3c2b	T	C	1: 133,103,428	S1491P	probably benign	Het
Plb1	G	T	5: 32,293,242	D376Y	probably damaging	Het
Plch1	T	A	3: 63,744,535	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,387,122	E383K	probably benign	Het
Plxnb1	T	C	9: 109,102,708		probably null	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prpf8	T	A	11: 75,495,363	V946E	probably damaging	Het
Ptprh	C	A	7: 4,603,133		probably benign	Het
Rngtt	T	A	4: 33,500,302	C565*	probably null	Het
Sacs	A	G	14: 61,204,660	H1385R	probably benign	Het
Serpinb13	A	T	1: 106,999,026	I251L	possibly damaging	Het
Shc1	G	A	3: 89,423,542	G91S	probably damaging	Het
Sin3b	T	A	8: 72,733,419	N211K	probably benign	Het
Slc22a2	A	T	17: 12,586,805	M148L	probably benign	Het
Slc3a1	G	A	17: 85,063,792	V591I	probably benign	Het
Slc47a2	A	T	11: 61,328,526		probably null	Het
Spag17	C	T	3: 100,106,797	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,245,604	S278F	probably damaging	Het
Sphkap	T	A	1: 83,257,221	D1628V	probably damaging	Het
Themis3	C	T	17: 66,555,704	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,217,246	K445E	probably damaging	Het
U2surp	T	C	9: 95,491,420	E232G	possibly damaging	Het
Usp25	T	A	16: 77,076,429	F458L	probably damaging	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,114,103	T227A	probably damaging	Het
Zcchc12	C	T	X: 36,198,465	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,189,555	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,592,233	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,225,547	G413D	probably damaging	Het

Other mutations in Sec24a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Sec24a	APN	11	51736504	nonsense	probably null
IGL00973:Sec24a	APN	11	51729577	critical splice acceptor site	probably null
IGL01364:Sec24a	APN	11	51713529	critical splice donor site	probably null
IGL01476:Sec24a	APN	11	51708956	missense	possibly damaging	0.88
IGL01725:Sec24a	APN	11	51723578	splice site	probably null
IGL02069:Sec24a	APN	11	51733934	splice site	probably benign
IGL02230:Sec24a	APN	11	51709034	missense	possibly damaging	0.88
IGL02617:Sec24a	APN	11	51712187	critical splice donor site	probably null
IGL02655:Sec24a	APN	11	51734655	missense	probably benign	0.43
IGL02756:Sec24a	APN	11	51696733	missense	probably benign	0.02
IGL03396:Sec24a	APN	11	51708967	missense	probably benign	0.17
R0153:Sec24a	UTSW	11	51700826	missense	probably benign	0.08
R0506:Sec24a	UTSW	11	51743795	missense	probably benign	0.03
R0625:Sec24a	UTSW	11	51729454	missense	probably damaging	0.98
R1084:Sec24a	UTSW	11	51713581	missense	probably damaging	1.00
R1166:Sec24a	UTSW	11	51733467	missense	possibly damaging	0.72
R1376:Sec24a	UTSW	11	51700913	splice site	probably benign
R1487:Sec24a	UTSW	11	51731886	missense	possibly damaging	0.92
R1541:Sec24a	UTSW	11	51743796	missense	probably benign	0.41
R1582:Sec24a	UTSW	11	51708967	missense	probably benign	0.17
R1643:Sec24a	UTSW	11	51704385	missense	probably benign	0.03
R1672:Sec24a	UTSW	11	51743948	nonsense	probably null
R1681:Sec24a	UTSW	11	51695189	missense	probably damaging	0.98
R1756:Sec24a	UTSW	11	51733763	splice site	probably benign
R1992:Sec24a	UTSW	11	51736363	missense	probably benign	0.00
R2159:Sec24a	UTSW	11	51712350	missense	probably damaging	1.00
R2177:Sec24a	UTSW	11	51704401	missense	probably benign	0.00
R2188:Sec24a	UTSW	11	51723584	missense	probably damaging	0.99
R3414:Sec24a	UTSW	11	51729458	missense	probably damaging	1.00
R4349:Sec24a	UTSW	11	51715149	missense	probably benign	0.03
R4396:Sec24a	UTSW	11	51715164	missense	possibly damaging	0.86
R4629:Sec24a	UTSW	11	51721813	critical splice donor site	probably null
R5061:Sec24a	UTSW	11	51713532	splice site	probably null
R5577:Sec24a	UTSW	11	51734621	missense	probably benign	0.06
R5717:Sec24a	UTSW	11	51707210	missense	probably benign
R5915:Sec24a	UTSW	11	51756137	missense	probably benign	0.11
R6175:Sec24a	UTSW	11	51731891	missense	probably damaging	1.00
R6341:Sec24a	UTSW	11	51717776	missense	probably damaging	0.99
R6461:Sec24a	UTSW	11	51713546	missense	possibly damaging	0.76
R6610:Sec24a	UTSW	11	51696656	missense	probably benign
R6632:Sec24a	UTSW	11	51713649	nonsense	probably null
R6907:Sec24a	UTSW	11	51712276	missense	probably damaging	1.00
R6969:Sec24a	UTSW	11	51700816	missense	probably benign	0.35
R7132:Sec24a	UTSW	11	51715136	nonsense	probably null
R7274:Sec24a	UTSW	11	51707255	missense	probably damaging	1.00
R7475:Sec24a	UTSW	11	51713552	missense	probably damaging	1.00
R7699:Sec24a	UTSW	11	51712257	missense	probably damaging	1.00
R7700:Sec24a	UTSW	11	51712257	missense	probably damaging	1.00
X0025:Sec24a	UTSW	11	51729547	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCAGGTTGGATTTCTAACAGC -3'
(R):5'- CCACAAATGTTTACGAAGACGC -3'

Sequencing Primer
(F):5'- GGTTGGATTTCTAACAGCCTAAAGC -3'
(R):5'- TTTACGAAGACGCTGGAGACCC -3'

Posted On

2014-10-16