Mutagenetix > Incidental Mutation

Incidental Mutation 'R7700:Sec24a'

593955

Institutional Source

Beutler Lab

Gene Symbol

Sec24a

Ensembl Gene

ENSMUSG00000036391

Gene Name

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

Synonyms

9430090N21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51692264-51763634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51712257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 788 (V788E)

Ref Sequence

ENSEMBL: ENSMUSP00000104725 (fasta)

Gene Model

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

AlphaFold

Q3U2P1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038210
AA Change: V787E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: V787E

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

probably damaging
Transcript: ENSMUST00000109097
AA Change: V788E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: V788E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	G	18: 57,563,316		probably null	Het
1810009A15Rik	T	C	19: 8,890,053	L72P	probably benign	Het
4930407I10Rik	C	A	15: 82,064,105	H734Q	probably benign	Het
4932438A13Rik	T	A	3: 36,974,172	N2329K	possibly damaging	Het
4932438A13Rik	C	T	3: 37,026,154	S267L	probably benign	Het
Acadl	A	G	1: 66,838,363	V343A	possibly damaging	Het
Acot4	A	T	12: 84,043,237	D236V	probably damaging	Het
App	T	A	16: 85,040,309		probably null	Het
Arfgef1	G	A	1: 10,194,411	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,274,757	I814T	probably benign	Het
Atr	A	T	9: 95,875,690	R968*	probably null	Het
C130060K24Rik	T	A	6: 65,452,956	I212N	probably benign	Het
Capn7	C	T	14: 31,352,444	T268I	probably benign	Het
Cbwd1	A	G	19: 24,942,681		probably null	Het
Csmd2	G	T	4: 128,545,756		probably null	Het
Cubn	A	T	2: 13,348,178	F1916L	probably benign	Het
Cubn	A	G	2: 13,489,917	V107A	possibly damaging	Het
Cyp11b1	T	A	15: 74,835,842	T473S	probably damaging	Het
Cyr61	C	T	3: 145,648,692	G155R	probably damaging	Het
Dip2c	T	G	13: 9,659,311	S1396A	probably benign	Het
Dopey2	T	G	16: 93,798,761		probably null	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,174,077	R206L	probably benign	Het
Ep400	C	T	5: 110,696,032	R1594Q	unknown	Het
Esyt1	T	A	10: 128,515,854		probably benign	Het
Fmnl2	G	A	2: 53,036,508	R69Q		Het
Fry	T	A	5: 150,405,327	H1308Q	probably damaging	Het
Fyb2	T	A	4: 105,010,454	D667E	probably benign	Het
Gimap7	T	A	6: 48,723,857	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,000,180	W266R	probably damaging	Het
Gm28042	T	A	2: 120,039,716	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,770,635	*231R	probably null	Het
Gm5592	C	A	7: 41,286,407	A111E	probably damaging	Het
Gm7694	A	G	1: 170,301,148	*271Q	probably null	Het
Gm9195	A	C	14: 72,455,902		probably null	Het
Ift81	T	C	5: 122,594,560	M304V	possibly damaging	Het
Igfals	T	C	17: 24,880,574	L213P	probably damaging	Het
Ints3	G	A	3: 90,421,804	P83S	probably benign	Het
Kcna10	T	G	3: 107,195,540	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,843,719	A4520V	unknown	Het
Lemd3	A	T	10: 120,978,090	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,996,032	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,792,574	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,630,679	M550T	possibly damaging	Het
Maml2	A	T	9: 13,621,089	Q533L		Het
Mdn1	T	A	4: 32,741,344	D3815E	probably damaging	Het
Megf8	C	T	7: 25,329,928	A299V	possibly damaging	Het
Meis3	G	T	7: 16,177,556	E59D	probably benign	Het
Mppe1	A	G	18: 67,225,704	*398R	probably null	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,083,969	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,287,759	V158E	possibly damaging	Het
Nrbp2	T	G	15: 76,090,897	T53P	probably damaging	Het
Nrde2	G	A	12: 100,130,835	P902L	probably benign	Het
Olfr1383	A	G	11: 49,524,554	Y277C	probably damaging	Het
Olfr509	T	A	7: 108,645,672	K301N	probably damaging	Het
Olfr739	T	A	14: 50,425,335	M272K	probably benign	Het
Olfr771	T	C	10: 129,160,055	M310V	probably benign	Het
Pcdha1	A	G	18: 36,931,062	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,249,658	K98N	probably damaging	Het
Pdxk	A	T	10: 78,443,930		probably null	Het
Phrf1	G	A	7: 141,254,929	G207R	unknown	Het
Pik3r6	A	G	11: 68,528,563	K124R	probably damaging	Het
Polr2b	T	A	5: 77,340,421	F823I	probably benign	Het
Prss58	T	C	6: 40,895,388	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,865,411	N766I	probably benign	Het
Repin1	T	A	6: 48,597,822	S562T	probably damaging	Het
Rgr	C	T	14: 37,044,595	D165N	probably damaging	Het
Rho	T	C	6: 115,935,239	F221L	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnase2a	A	G	14: 51,255,791	I39T	probably damaging	Het
Rpl13a	T	G	7: 45,127,236	I43L	probably benign	Het
Rpp30	T	C	19: 36,089,158	V97A	probably benign	Het
Scube3	T	C	17: 28,167,049	Y755H	probably damaging	Het
Spns2	A	T	11: 72,489,617	L60*	probably null	Het
Strc	T	C	2: 121,371,748	N1213S	possibly damaging	Het
Tec	A	T	5: 72,786,024	I116N	possibly damaging	Het
Tll1	A	T	8: 64,093,954	D319E	probably benign	Het
Tmem121b	T	C	6: 120,493,427	T110A	unknown	Het
Tmem232	T	A	17: 65,265,218	I593F	probably damaging	Het
Tpp2	A	G	1: 43,970,466	I487V	probably benign	Het
Ubr4	C	A	4: 139,408,867	C934*	probably null	Het
Vmn1r68	A	G	7: 10,527,632	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,839,923	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,576,361	W108R	possibly 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
R2271:Sec24a	UTSW	11	51716450	missense	possibly damaging	0.91
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
R7935:Sec24a	UTSW	11	51721922	missense	probably benign	0.25
R8042:Sec24a	UTSW	11	51704317	missense	probably benign
R8345:Sec24a	UTSW	11	51743778	missense	probably benign	0.00
R9217:Sec24a	UTSW	11	51726504	missense	probably benign	0.14
R9501:Sec24a	UTSW	11	51712295	missense	probably damaging	1.00
X0025:Sec24a	UTSW	11	51729547	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCTGTTGAGAGGCTAGGTCTC -3'
(R):5'- GAGTGCTCTGTCTTCTCTAAGCTG -3'

Sequencing Primer
(F):5'- GTCTATACAGTTAGTTCCAGGCCAG -3'
(R):5'- AAGCTGTTTATTCTCTGATAAAGGAG -3'

Posted On

2019-11-12