Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Sec24a'

194879

Institutional Source

Beutler Lab

Gene Symbol

Sec24a

Ensembl Gene

ENSMUSG00000036391

Gene Name

SEC24 homolog A, COPII coat complex component

Synonyms

9430090N21Rik

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51583090-51649172 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 51624590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038210] [ENSMUST00000064297] [ENSMUST00000109092] [ENSMUST00000109097]

AlphaFold

Q3U2P1

Predicted Effect

probably benign
Transcript: ENSMUST00000038210

SMART Domains

Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391

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: ENSMUST00000064297

SMART Domains

Protein: ENSMUSP00000068065
Gene: ENSMUSG00000036391

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	424	462	3.5e-18	PFAM
Pfam:Sec23_trunk	498	589	1.3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109092

SMART Domains

Protein: ENSMUSP00000104720
Gene: ENSMUSG00000036391

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	3.9e-19	PFAM
Pfam:Sec23_trunk	497	588	1.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109097

SMART Domains

Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147255

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	C	A	8: 100,148,514 (GRCm39)		noncoding transcript	Het
Acin1	A	G	14: 54,902,661 (GRCm39)	V377A	probably benign	Het
Adam39	A	T	8: 41,278,361 (GRCm39)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,170,912 (GRCm39)	*1166K	probably null	Het
Akap12	T	A	10: 4,307,574 (GRCm39)	D1461E	probably benign	Het
Aopep	T	A	13: 63,215,875 (GRCm39)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,871,056 (GRCm39)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,277,671 (GRCm39)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,640,122 (GRCm39)	M163I	probably damaging	Het
Cap2	T	G	13: 46,684,489 (GRCm39)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,468,332 (GRCm39)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,318,070 (GRCm39)	V234A	probably benign	Het
Cd207	C	T	6: 83,652,579 (GRCm39)	V184I	probably benign	Het
Cdk12	C	A	11: 98,132,587 (GRCm39)	C1005*	probably null	Het
Cep83	T	C	10: 94,586,129 (GRCm39)	S344P	probably damaging	Het
Ces1g	A	T	8: 94,033,582 (GRCm39)	Y447N	probably benign	Het
Cfap54	A	T	10: 92,883,923 (GRCm39)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,028,615 (GRCm39)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,142,525 (GRCm39)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,244,068 (GRCm39)	D59G	probably damaging	Het
Colq	G	A	14: 31,269,409 (GRCm39)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,862,275 (GRCm39)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,501,725 (GRCm39)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,178,912 (GRCm39)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,976,766 (GRCm39)	V306A	probably benign	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,323,539 (GRCm39)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,641,206 (GRCm39)	S344A	probably benign	Het
Dner	C	T	1: 84,423,311 (GRCm39)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,170,115 (GRCm39)	L139*	probably null	Het
Fam193a	T	A	5: 34,623,636 (GRCm39)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,396,385 (GRCm39)	Y102*	probably null	Het
Gm10509	A	G	17: 21,909,762 (GRCm39)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,197,921 (GRCm39)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,597,015 (GRCm39)		probably benign	Het
Heatr1	G	T	13: 12,411,341 (GRCm39)	A61S	probably benign	Het
Helb	G	T	10: 119,930,147 (GRCm39)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,474,781 (GRCm39)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,286,132 (GRCm39)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,158,461 (GRCm39)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,318,669 (GRCm39)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,327,232 (GRCm39)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 141,783,358 (GRCm39)	K97N	unknown	Het
Lcor	T	C	19: 41,547,705 (GRCm39)	S430P	probably benign	Het
Lpin1	A	G	12: 16,588,541 (GRCm39)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,000,837 (GRCm39)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 96,925,556 (GRCm39)		probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,930,131 (GRCm39)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm39)	L635*	probably null	Het
Nipbl	T	C	15: 8,368,035 (GRCm39)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,160,959 (GRCm39)	D196G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2b2b	A	G	13: 21,858,865 (GRCm39)	I83T	probably benign	Het
Or8b42	A	T	9: 38,342,291 (GRCm39)	I238F	probably benign	Het
Or8k16	A	G	2: 85,520,427 (GRCm39)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,325,833 (GRCm39)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,743,207 (GRCm39)	K298E	probably benign	Het
Pkd1	C	T	17: 24,813,459 (GRCm39)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,516,488 (GRCm39)	V546D	possibly damaging	Het
Plcg2	A	G	8: 118,319,447 (GRCm39)	K673E	probably benign	Het
Pld4	T	G	12: 112,729,826 (GRCm39)		probably null	Het
Plek	A	T	11: 16,942,901 (GRCm39)	N130K	probably damaging	Het
Prune2	G	A	19: 17,101,068 (GRCm39)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,048,723 (GRCm39)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,498,092 (GRCm39)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,786,826 (GRCm39)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,578,188 (GRCm39)	S168P	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,987,984 (GRCm39)	M574I	probably benign	Het
Slk	T	C	19: 47,611,116 (GRCm39)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,991,603 (GRCm39)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,173,525 (GRCm39)	M174L	probably benign	Het
Spz1	T	A	13: 92,711,633 (GRCm39)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,422,814 (GRCm39)	R519S	probably benign	Het
Taf4	T	C	2: 179,618,324 (GRCm39)	H39R	unknown	Het
Tbx5	A	T	5: 119,983,178 (GRCm39)		probably null	Het
Tektl1	T	A	10: 78,583,031 (GRCm39)	K451M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Th	G	A	7: 142,451,903 (GRCm39)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,568,038 (GRCm39)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 155,009,779 (GRCm39)	H50L	possibly damaging	Het
Tpp2	T	A	1: 44,017,885 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim2	A	G	3: 84,098,107 (GRCm39)	I398T	possibly damaging	Het
Trpc5	A	T	X: 143,264,222 (GRCm39)	S212T	probably damaging	Het
Ttn	A	G	2: 76,617,678 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,678,407 (GRCm39)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,518,814 (GRCm39)	S260T	probably benign	Het
Vcan	A	G	13: 89,839,800 (GRCm39)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,589,282 (GRCm39)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,603,385 (GRCm39)	T205A	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
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
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'- TACAGTCTACCTGGGCCGCTTATC -3'
(R):5'- CCCTTGTTTCTAGCAACACCACAGC -3'

Sequencing Primer
(F):5'- TGATTAGCACCTAAGGGAGTCTAC -3'
(R):5'- CAGCTTGTTAATCAGAACCCC -3'

Posted On

2014-05-23