Mutagenetix > Incidental Mutation

Incidental Mutation 'R0153:Sec24a'

22852

Institutional Source

Beutler Lab

Gene Symbol

Sec24a

Ensembl Gene

ENSMUSG00000036391

Gene Name

SEC24 homolog A, COPII coat complex component

Synonyms

9430090N21Rik

MMRRC Submission

038436-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0153 (G1)

Quality Score

195

Status

Validated (trace)

Chromosome

Chromosomal Location

51583090-51649172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51591653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1014 (I1014M)

Ref Sequence

ENSEMBL: ENSMUSP00000104725 (fasta)

Gene Model

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

AlphaFold

Q3U2P1

Predicted Effect

probably benign
Transcript: ENSMUST00000038210
AA Change: I1013M

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: I1013M

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 benign
Transcript: ENSMUST00000109097
AA Change: I1014M

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: I1014M

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

Meta Mutation Damage Score

0.1182

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

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
Abcb9	T	C	5: 124,218,119 (GRCm39)	M406V	probably benign	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Adgre1	T	A	17: 57,750,939 (GRCm39)	S538T	possibly damaging	Het
Alms1	T	A	6: 85,618,363 (GRCm39)	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,090,091 (GRCm39)		probably benign	Het
Arid1b	G	A	17: 5,393,207 (GRCm39)	A2246T	probably damaging	Het
BC024139	T	C	15: 76,005,947 (GRCm39)	E418G	probably damaging	Het
Bok	A	G	1: 93,614,239 (GRCm39)	D24G	probably damaging	Het
Cabp2	T	C	19: 4,134,913 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,995,582 (GRCm39)		probably benign	Het
Ccdc178	T	C	18: 22,283,492 (GRCm39)	T13A	probably benign	Het
Ccdc42	G	T	11: 68,478,476 (GRCm39)	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,368,176 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,548,176 (GRCm39)		probably benign	Het
Cr1l	A	T	1: 194,797,164 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,663,720 (GRCm39)	V726A	probably benign	Het
Csnk1g3	T	A	18: 54,051,861 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,281 (GRCm39)		probably benign	Het
Dgkh	A	C	14: 78,807,569 (GRCm39)	Y1149*	probably null	Het
Dipk2a	G	T	9: 94,406,533 (GRCm39)	D291E	probably benign	Het
Dnai1	A	G	4: 41,635,162 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,196,256 (GRCm39)	V497A	probably benign	Het
Efcab2	A	G	1: 178,302,451 (GRCm39)	E65G	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,842 (GRCm39)	D101V	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fgfr4	A	G	13: 55,309,198 (GRCm39)		probably benign	Het
Garin5b	A	T	7: 4,773,286 (GRCm39)	L177Q	probably damaging	Het
Gm10720	A	C	9: 3,015,787 (GRCm39)	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm6471	A	T	7: 142,385,368 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	T	17: 33,865,489 (GRCm39)	R724Q	probably damaging	Het
Homer1	C	T	13: 93,528,254 (GRCm39)	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,557,801 (GRCm39)	Q60L	probably damaging	Het
Ift172	T	C	5: 31,417,968 (GRCm39)	R1274G	probably benign	Het
Ino80d	A	G	1: 63,097,477 (GRCm39)	S806P	probably damaging	Het
Itga10	T	C	3: 96,561,016 (GRCm39)	V627A	probably benign	Het
Itgb2l	A	G	16: 96,238,569 (GRCm39)	Y77H	possibly damaging	Het
Kel	A	T	6: 41,678,877 (GRCm39)	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,694,582 (GRCm39)	S122P	possibly damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Lats1	T	A	10: 7,567,339 (GRCm39)	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,013,031 (GRCm39)	H1858L	possibly damaging	Het
Matk	A	T	10: 81,098,676 (GRCm39)	T461S	probably benign	Het
Meikin	A	G	11: 54,300,468 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,214,029 (GRCm39)	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,324 (GRCm39)	F194L	possibly damaging	Het
Nbas	G	A	12: 13,323,877 (GRCm39)		probably benign	Het
Nme4	A	G	17: 26,312,831 (GRCm39)		probably null	Het
Or13p8	A	T	4: 118,583,530 (GRCm39)	I29F	possibly damaging	Het
Or4c112	T	A	2: 88,853,540 (GRCm39)	N269I	probably benign	Het
Or5w13	A	G	2: 87,523,948 (GRCm39)	S93P	probably benign	Het
Or7g32	T	A	9: 19,408,233 (GRCm39)	L63H	probably damaging	Het
Or8g34	T	C	9: 39,372,967 (GRCm39)	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,261,862 (GRCm39)	Q473R	probably benign	Het
Patz1	A	G	11: 3,243,288 (GRCm39)	H427R	probably damaging	Het
Pkp3	A	G	7: 140,663,256 (GRCm39)	Y367C	probably damaging	Het
Prdm2	G	A	4: 142,860,338 (GRCm39)	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,750,124 (GRCm39)	C3091*	probably null	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpl5	T	C	5: 108,052,623 (GRCm39)	F140L	probably benign	Het
Serpinb11	A	G	1: 107,299,933 (GRCm39)	H93R	probably benign	Het
Shank2	C	A	7: 143,623,872 (GRCm39)	H286N	probably benign	Het
Sipa1l2	G	T	8: 126,148,637 (GRCm39)	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,963,002 (GRCm39)	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,856,427 (GRCm39)		probably benign	Het
Smg5	C	T	3: 88,261,179 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Taf8	A	T	17: 47,809,177 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,333,829 (GRCm39)	D617G	probably damaging	Het
Tbc1d5	A	T	17: 51,291,715 (GRCm39)		probably benign	Het
Tfcp2	C	G	15: 100,412,708 (GRCm39)	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,147,345 (GRCm39)	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,095,634 (GRCm39)	Q70R	probably benign	Het
Trip13	G	T	13: 74,068,183 (GRCm39)	A266E	possibly damaging	Het
Ttc24	T	A	3: 87,982,234 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,878,740 (GRCm39)	I49N	probably damaging	Het
Tut7	G	A	13: 59,930,150 (GRCm39)	R962*	probably null	Het
Ube2ql1	A	T	13: 69,886,711 (GRCm39)	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,211 (GRCm39)	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,227,877 (GRCm39)	Y120H	probably benign	Het
Wdr6	G	A	9: 108,452,441 (GRCm39)	R481C	probably damaging	Het
Zdhhc17	A	T	10: 110,790,955 (GRCm39)	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185 (GRCm39)	N620D	probably benign	Het
Zfp932	T	A	5: 110,154,834 (GRCm39)	Y11N	probably benign	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
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
R7132:Sec24a	UTSW	11	51,605,963 (GRCm39)	nonsense	probably null
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'- AACCATAAAATGAGCACTTGCAGTTGG -3'
(R):5'- CTGCTGAGCCTCCTTAATGGTTGG -3'

Sequencing Primer
(F):5'- AGCACTTGCAGTTGGTAGAG -3'
(R):5'- GTCTCCCATTTCATAGTGTTTAGTAG -3'

Posted On

2013-04-16