Mutagenetix > Incidental Mutation

Incidental Mutation 'R7132:Sec24a'

552759

Institutional Source

Beutler Lab

Gene Symbol

Sec24a

Ensembl Gene

ENSMUSG00000036391

Gene Name

SEC24 homolog A, COPII coat complex component

Synonyms

9430090N21Rik

MMRRC Submission

045217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51583090-51649172 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 51605963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 696 (L696*)

Ref Sequence

ENSEMBL: ENSMUSP00000104725 (fasta)

Gene Model

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

AlphaFold

Q3U2P1

Predicted Effect

probably null
Transcript: ENSMUST00000038210
AA Change: L695*

SMART Domains

Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: L695*

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 null
Transcript: ENSMUST00000109097
AA Change: L696*

SMART Domains

Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: L696*

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,825,744 (GRCm39)	A1471V		Het
Ankrd12	C	A	17: 66,290,242 (GRCm39)	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,199,478 (GRCm39)	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,619,412 (GRCm39)	Y277*	probably null	Het
App	T	C	16: 84,853,370 (GRCm39)	D236G	unknown	Het
Arid2	A	T	15: 96,247,894 (GRCm39)	K102I	possibly damaging	Het
Asl	A	G	5: 130,043,543 (GRCm39)	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cbx2	A	G	11: 118,913,947 (GRCm39)	S5G	probably benign	Het
Ccdc183	A	G	2: 25,506,542 (GRCm39)		probably null	Het
Cd72	T	C	4: 43,452,444 (GRCm39)	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,128,555 (GRCm39)	D702E	possibly damaging	Het
Cfap61	A	T	2: 145,951,870 (GRCm39)	N784I	probably damaging	Het
Cgrrf1	G	A	14: 47,091,321 (GRCm39)	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cobll1	T	G	2: 64,964,112 (GRCm39)	K170Q	probably damaging	Het
Copg2	A	T	6: 30,792,931 (GRCm39)	V468D	probably benign	Het
Cracr2b	C	T	7: 141,043,651 (GRCm39)	A84V	probably benign	Het
Cyp2f2	A	T	7: 26,831,993 (GRCm39)	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391 (GRCm39)	F75S	probably benign	Het
Eml3	G	T	19: 8,918,392 (GRCm39)	A829S	probably benign	Het
Entpd3	A	G	9: 120,390,086 (GRCm39)	T402A	probably benign	Het
Fer1l4	A	T	2: 155,887,546 (GRCm39)	V550E	probably damaging	Het
Fgb	G	A	3: 82,954,053 (GRCm39)	R62*	probably null	Het
Fubp1	T	A	3: 151,937,661 (GRCm39)		probably null	Het
Gdf3	A	C	6: 122,583,283 (GRCm39)	D361E	probably damaging	Het
Gm6685	A	T	11: 28,289,330 (GRCm39)	I162N	probably damaging	Het
Hmx2	A	G	7: 131,157,645 (GRCm39)	Y253C	probably damaging	Het
Ints2	G	T	11: 86,108,580 (GRCm39)	N922K	probably benign	Het
Ipo7	C	T	7: 109,653,254 (GRCm39)	L984F	probably benign	Het
Itgae	A	T	11: 73,002,184 (GRCm39)	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,076,597 (GRCm39)	V697A	unknown	Het
Kctd18	G	A	1: 58,006,737 (GRCm39)	R38*	probably null	Het
Kdm5b	A	G	1: 134,526,844 (GRCm39)	D322G	probably damaging	Het
Ldb3	A	G	14: 34,298,992 (GRCm39)	Y211H	probably benign	Het
Limch1	T	C	5: 67,111,028 (GRCm39)	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,721,613 (GRCm39)	L68*	probably null	Het
Lrwd1	A	G	5: 136,152,129 (GRCm39)	V616A	possibly damaging	Het
Nars1	A	G	18: 64,640,841 (GRCm39)		probably null	Het
Nradd	T	C	9: 110,451,329 (GRCm39)	D13G	probably benign	Het
Oacyl	A	T	18: 65,831,480 (GRCm39)	N39I	probably damaging	Het
Onecut2	A	T	18: 64,473,983 (GRCm39)	H178L	possibly damaging	Het
Or9i14	T	A	19: 13,792,786 (GRCm39)	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,820,430 (GRCm39)	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,942,102 (GRCm39)	I902F	possibly damaging	Het
Plod3	T	C	5: 137,023,971 (GRCm39)	L180S		Het
Prrc2c	A	T	1: 162,508,850 (GRCm39)	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,361,225 (GRCm39)	E58G	probably benign	Het
Rev1	G	T	1: 38,110,530 (GRCm39)	D573E	possibly damaging	Het
Serpinb3c	A	G	1: 107,204,681 (GRCm39)	S22P	probably damaging	Het
St18	A	T	1: 6,929,351 (GRCm39)	H81L		Het
Stard9	A	T	2: 120,509,859 (GRCm39)	K266*	probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,612,351 (GRCm39)	T381I	probably benign	Het
Tecpr2	T	A	12: 110,881,806 (GRCm39)	V125D	probably damaging	Het
Tmc2	T	C	2: 130,074,329 (GRCm39)	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,787,224 (GRCm39)	V143I	probably benign	Het
Trap1	A	G	16: 3,873,693 (GRCm39)	Y288H	probably benign	Het
Trim39	T	C	17: 36,571,547 (GRCm39)	T404A	probably benign	Het
Ttn	T	A	2: 76,576,043 (GRCm39)	K24950I	probably damaging	Het
Ttn	G	T	2: 76,774,696 (GRCm39)	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757 (GRCm39)	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,778,536 (GRCm39)	I471N	probably damaging	Het
Wbp11	T	C	6: 136,798,540 (GRCm39)	T170A	probably benign	Het
Wnk4	A	G	11: 101,152,026 (GRCm39)	I177V	probably benign	Het
Zfp455	C	A	13: 67,347,230 (GRCm39)	P51T	probably damaging	Het
Zfp946	T	C	17: 22,673,644 (GRCm39)	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,460,589 (GRCm39)	Y514*	probably null	Het
Zzef1	T	C	11: 72,808,697 (GRCm39)		probably null	Het

Other mutations in Sec24a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Sec24a	APN	11	51,627,331 (GRCm39)	nonsense	probably null
IGL00973:Sec24a	APN	11	51,620,404 (GRCm39)	critical splice acceptor site	probably null
IGL01364:Sec24a	APN	11	51,604,356 (GRCm39)	critical splice donor site	probably null
IGL01476:Sec24a	APN	11	51,599,783 (GRCm39)	missense	possibly damaging	0.88
IGL01725:Sec24a	APN	11	51,614,405 (GRCm39)	splice site	probably null
IGL02069:Sec24a	APN	11	51,624,761 (GRCm39)	splice site	probably benign
IGL02230:Sec24a	APN	11	51,599,861 (GRCm39)	missense	possibly damaging	0.88
IGL02617:Sec24a	APN	11	51,603,014 (GRCm39)	critical splice donor site	probably null
IGL02655:Sec24a	APN	11	51,625,482 (GRCm39)	missense	probably benign	0.43
IGL02756:Sec24a	APN	11	51,587,560 (GRCm39)	missense	probably benign	0.02
IGL03396:Sec24a	APN	11	51,599,794 (GRCm39)	missense	probably benign	0.17
R0153:Sec24a	UTSW	11	51,591,653 (GRCm39)	missense	probably benign	0.08
R0506:Sec24a	UTSW	11	51,634,622 (GRCm39)	missense	probably benign	0.03
R0625:Sec24a	UTSW	11	51,620,281 (GRCm39)	missense	probably damaging	0.98
R1084:Sec24a	UTSW	11	51,604,408 (GRCm39)	missense	probably damaging	1.00
R1166:Sec24a	UTSW	11	51,624,294 (GRCm39)	missense	possibly damaging	0.72
R1376:Sec24a	UTSW	11	51,591,740 (GRCm39)	splice site	probably benign
R1487:Sec24a	UTSW	11	51,622,713 (GRCm39)	missense	possibly damaging	0.92
R1541:Sec24a	UTSW	11	51,634,623 (GRCm39)	missense	probably benign	0.41
R1582:Sec24a	UTSW	11	51,599,794 (GRCm39)	missense	probably benign	0.17
R1643:Sec24a	UTSW	11	51,595,212 (GRCm39)	missense	probably benign	0.03
R1672:Sec24a	UTSW	11	51,634,775 (GRCm39)	nonsense	probably null
R1681:Sec24a	UTSW	11	51,586,016 (GRCm39)	missense	probably damaging	0.98
R1756:Sec24a	UTSW	11	51,624,590 (GRCm39)	splice site	probably benign
R1992:Sec24a	UTSW	11	51,627,190 (GRCm39)	missense	probably benign	0.00
R2159:Sec24a	UTSW	11	51,603,177 (GRCm39)	missense	probably damaging	1.00
R2177:Sec24a	UTSW	11	51,595,228 (GRCm39)	missense	probably benign	0.00
R2188:Sec24a	UTSW	11	51,614,411 (GRCm39)	missense	probably damaging	0.99
R2271:Sec24a	UTSW	11	51,607,277 (GRCm39)	missense	possibly damaging	0.91
R3414:Sec24a	UTSW	11	51,620,285 (GRCm39)	missense	probably damaging	1.00
R4349:Sec24a	UTSW	11	51,605,976 (GRCm39)	missense	probably benign	0.03
R4396:Sec24a	UTSW	11	51,605,991 (GRCm39)	missense	possibly damaging	0.86
R4629:Sec24a	UTSW	11	51,612,640 (GRCm39)	critical splice donor site	probably null
R5061:Sec24a	UTSW	11	51,604,359 (GRCm39)	splice site	probably null
R5577:Sec24a	UTSW	11	51,625,448 (GRCm39)	missense	probably benign	0.06
R5717:Sec24a	UTSW	11	51,598,037 (GRCm39)	missense	probably benign
R5915:Sec24a	UTSW	11	51,646,964 (GRCm39)	missense	probably benign	0.11
R6175:Sec24a	UTSW	11	51,622,718 (GRCm39)	missense	probably damaging	1.00
R6341:Sec24a	UTSW	11	51,608,603 (GRCm39)	missense	probably damaging	0.99
R6461:Sec24a	UTSW	11	51,604,373 (GRCm39)	missense	possibly damaging	0.76
R6610:Sec24a	UTSW	11	51,587,483 (GRCm39)	missense	probably benign
R6632:Sec24a	UTSW	11	51,604,476 (GRCm39)	nonsense	probably null
R6907:Sec24a	UTSW	11	51,603,103 (GRCm39)	missense	probably damaging	1.00
R6969:Sec24a	UTSW	11	51,591,643 (GRCm39)	missense	probably benign	0.35
R7274:Sec24a	UTSW	11	51,598,082 (GRCm39)	missense	probably damaging	1.00
R7475:Sec24a	UTSW	11	51,604,379 (GRCm39)	missense	probably damaging	1.00
R7699:Sec24a	UTSW	11	51,603,084 (GRCm39)	missense	probably damaging	1.00
R7700:Sec24a	UTSW	11	51,603,084 (GRCm39)	missense	probably damaging	1.00
R7935:Sec24a	UTSW	11	51,612,749 (GRCm39)	missense	probably benign	0.25
R8042:Sec24a	UTSW	11	51,595,144 (GRCm39)	missense	probably benign
R8345:Sec24a	UTSW	11	51,634,605 (GRCm39)	missense	probably benign	0.00
R9217:Sec24a	UTSW	11	51,617,331 (GRCm39)	missense	probably benign	0.14
R9501:Sec24a	UTSW	11	51,603,122 (GRCm39)	missense	probably damaging	1.00
X0025:Sec24a	UTSW	11	51,620,374 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCTGCTTCTCTACTTAGAACACTG -3'
(R):5'- AGCACTGTAGTATTACCCTAACC -3'

Sequencing Primer
(F):5'- CAGCACAAGTCTGTAATTGCGGTAC -3'
(R):5'- TGACACCATCCACTGACT -3'

Posted On

2019-05-15