Mutagenetix > Incidental Mutation

Incidental Mutation 'R7475:Sec24a'

579435

Institutional Source

Beutler Lab

Gene Symbol

Sec24a

Ensembl Gene

ENSMUSG00000036391

Gene Name

SEC24 homolog A, COPII coat complex component

Synonyms

9430090N21Rik

MMRRC Submission

045549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51583090-51649172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51604379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 746 (M746V)

Ref Sequence

ENSEMBL: ENSMUSP00000104725 (fasta)

Gene Model

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

AlphaFold

Q3U2P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038210
AA Change: M745V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: M745V

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: M746V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: M746V

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: 98.9%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,739 (GRCm39)	N214K	probably benign	Het
Abcf1	A	G	17: 36,274,459 (GRCm39)		probably null	Het
Agxt2	A	T	15: 10,409,623 (GRCm39)	M508L	probably benign	Het
Akr1c21	A	T	13: 4,626,318 (GRCm39)	Y114F	probably benign	Het
Amz1	T	C	5: 140,729,941 (GRCm39)		probably null	Het
Ank1	G	T	8: 23,622,646 (GRCm39)	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,687,805 (GRCm39)	S50P	possibly damaging	Het
AW551984	A	G	9: 39,509,236 (GRCm39)	S302P	probably damaging	Het
Ccn6	T	A	10: 39,034,296 (GRCm39)	Y102F	probably damaging	Het
Ces3a	T	A	8: 105,780,322 (GRCm39)		probably null	Het
Dedd	C	A	1: 171,167,881 (GRCm39)	P185Q	probably benign	Het
Fam186a	A	T	15: 99,845,395 (GRCm39)	V283E	unknown	Het
Fat2	C	A	11: 55,194,479 (GRCm39)	V1187F	probably benign	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fcgbp	C	T	7: 27,802,401 (GRCm39)	T1443I	probably damaging	Het
Foxj2	A	G	6: 122,814,801 (GRCm39)	D279G	probably benign	Het
Gbp5	A	G	3: 142,207,122 (GRCm39)	D97G	probably damaging	Het
Gm49368	A	T	7: 127,707,154 (GRCm39)	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330 (GRCm39)	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,230,267 (GRCm39)	D195E	possibly damaging	Het
Hectd4	T	A	5: 121,496,196 (GRCm39)		probably null	Het
Ifngr2	G	A	16: 91,354,797 (GRCm39)	C32Y	unknown	Het
Ikzf5	A	T	7: 130,993,788 (GRCm39)	C280S	probably benign	Het
Ints9	G	T	14: 65,263,914 (GRCm39)	E395D	probably null	Het
Isoc2b	T	C	7: 4,854,084 (GRCm39)	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,061,092 (GRCm39)	S967R	probably benign	Het
Kcnj3	A	T	2: 55,327,338 (GRCm39)	K42N	probably benign	Het
Kiz	T	C	2: 146,733,006 (GRCm39)	V394A	possibly damaging	Het
Knl1	A	T	2: 118,918,027 (GRCm39)	H1795L	probably damaging	Het
Lmntd2	A	G	7: 140,790,602 (GRCm39)		probably null	Het
Loxhd1	C	A	18: 77,500,001 (GRCm39)	D1690E	possibly damaging	Het
Lrp1b	T	C	2: 41,234,588 (GRCm39)	D1121G		Het
Map3k2	T	C	18: 32,333,015 (GRCm39)	V63A	possibly damaging	Het
Mcc	G	T	18: 44,609,303 (GRCm39)	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,264,400 (GRCm39)	I232F	probably damaging	Het
Meltf	A	G	16: 31,700,756 (GRCm39)	K92R	probably benign	Het
Mff	T	A	1: 82,723,159 (GRCm39)		probably null	Het
Mrgpra3	T	A	7: 47,239,695 (GRCm39)	Y77F	probably damaging	Het
Mylk	G	A	16: 34,734,446 (GRCm39)		probably null	Het
Ndufv2	A	G	17: 66,394,532 (GRCm39)	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,973,861 (GRCm39)	E99G	probably damaging	Het
Nlk	C	A	11: 78,474,225 (GRCm39)	G358V	probably damaging	Het
Nnmt	A	T	9: 48,503,532 (GRCm39)	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,304,640 (GRCm39)	C242*	probably null	Het
Oas1b	A	T	5: 120,955,705 (GRCm39)	N162I	probably damaging	Het
Or4s2	A	G	2: 88,473,554 (GRCm39)	I148V	probably benign	Het
Otog	A	G	7: 45,916,700 (GRCm39)	N879S	probably damaging	Het
Pcsk7	T	A	9: 45,838,923 (GRCm39)	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgbd5	T	C	8: 125,160,750 (GRCm39)	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,368,581 (GRCm39)	Q800*	probably null	Het
Pkn3	T	C	2: 29,977,122 (GRCm39)	S621P	probably benign	Het
Polr3c	T	C	3: 96,622,501 (GRCm39)	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,863,031 (GRCm39)	G257W	probably benign	Het
Prkn	A	G	17: 11,653,501 (GRCm39)	D199G	probably benign	Het
Pxylp1	C	T	9: 96,738,420 (GRCm39)		probably null	Het
Rasgrp1	T	C	2: 117,116,589 (GRCm39)	T613A	probably benign	Het
Robo3	C	T	9: 37,336,674 (GRCm39)	V387I	probably benign	Het
Rxfp2	T	A	5: 149,973,046 (GRCm39)	Y174N	possibly damaging	Het
Sema4f	T	A	6: 82,891,355 (GRCm39)	E571D	possibly damaging	Het
Septin3	T	C	15: 82,170,657 (GRCm39)	V217A	probably benign	Het
Serpinb1b	A	C	13: 33,277,548 (GRCm39)	K260N	probably benign	Het
Sin3b	A	G	8: 73,476,500 (GRCm39)	T645A	possibly damaging	Het
Sobp	C	T	10: 42,897,830 (GRCm39)	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,082,281 (GRCm39)	L559Q	possibly damaging	Het
Srxn1	C	T	2: 151,947,573 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,432,794 (GRCm39)	R890Q	probably benign	Het
Stard9	A	G	2: 120,518,591 (GRCm39)	D505G	probably damaging	Het
Tjp1	A	T	7: 64,972,087 (GRCm39)	I653K	probably damaging	Het
Tnks	C	T	8: 35,298,866 (GRCm39)	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,579,121 (GRCm39)	I667N	probably benign	Het
Usp24	T	C	4: 106,199,550 (GRCm39)	S165P	possibly damaging	Het
Usp46	T	A	5: 74,189,598 (GRCm39)	K109*	probably null	Het
Vmn1r191	A	G	13: 22,362,942 (GRCm39)	C271R	probably benign	Het
Zfp592	T	C	7: 80,673,200 (GRCm39)	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,351,867 (GRCm39)	S158P	probably benign	Het
Zscan22	T	G	7: 12,640,664 (GRCm39)	C303G	probably damaging	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
R7132:Sec24a	UTSW	11	51,605,963 (GRCm39)	nonsense	probably null
R7274:Sec24a	UTSW	11	51,598,082 (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'- AAATTCTGTACAAGTGCGTGCC -3'
(R):5'- CCCACGCACGAGTGAATAAAGG -3'

Sequencing Primer
(F):5'- CTGGGAATTGAACTCAGGACCTCTG -3'
(R):5'- AAGGGGTGTCTAAAAGGAGTGTGTTC -3'

Posted On

2019-10-07