Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Sec24a'

47597

Institutional Source

Beutler Lab

Gene Symbol

Sec24a

Ensembl Gene

ENSMUSG00000036391

Gene Name

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

Synonyms

9430090N21Rik

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51692264-51763634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51743795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 101 (H101Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104720 (fasta)

Gene Model

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

AlphaFold

Q3U2P1

Predicted Effect

probably benign
Transcript: ENSMUST00000038210
AA Change: H101Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: H101Q

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
AA Change: H101Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000068065
Gene: ENSMUSG00000036391
AA Change: H101Q

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
AA Change: H101Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104720
Gene: ENSMUSG00000036391
AA Change: H101Q

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
AA Change: H101Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: H101Q

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: ENSMUST00000147255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154325

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,538,096	C378*	probably null	Het
Ago3	T	C	4: 126,417,252	D56G	possibly damaging	Het
Ahnak	G	T	19: 9,009,128	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,433,526	G470D	probably damaging	Het
Ankub1	T	A	3: 57,690,375	N58I	probably damaging	Het
Apol7b	G	T	15: 77,425,528	T23K	probably benign	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 102,875,777	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,589,812	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,470,992	C109S	probably damaging	Het
Catsperd	A	G	17: 56,658,078	K475R	possibly damaging	Het
Cblb	A	G	16: 52,204,480	T913A	probably benign	Het
Cbx6	A	G	15: 79,828,203	L341P	probably benign	Het
Cd177	T	C	7: 24,758,356	Y159C	probably damaging	Het
Cdh7	A	G	1: 110,100,114	N530D	probably damaging	Het
Cdk8	T	C	5: 146,298,872	F270L	probably damaging	Het
Ces2c	A	T	8: 104,848,024	T38S	probably damaging	Het
Chst14	T	C	2: 118,927,721	L357P	probably damaging	Het
Clca3b	T	A	3: 144,822,866		probably benign	Het
Cluh	A	G	11: 74,664,894	S839G	probably benign	Het
Cnga4	T	A	7: 105,407,740	V350E	probably damaging	Het
Creb1	G	A	1: 64,570,267	G180R	probably damaging	Het
Csmd3	T	C	15: 48,457,511	E301G	probably benign	Het
Cyp4f18	A	T	8: 71,996,000	D268E	probably benign	Het
Dock5	A	G	14: 67,784,792		probably benign	Het
Dpy19l4	T	A	4: 11,289,715	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153	H224L	probably benign	Het
Dzip1l	C	A	9: 99,663,081	Q585K	possibly damaging	Het
Erf	C	T	7: 25,244,376	G510D	probably damaging	Het
Fanci	T	C	7: 79,432,178	L623P	probably benign	Het
Fat1	T	C	8: 45,022,951	V1655A	probably damaging	Het
Fat4	T	C	3: 38,888,314	V452A	probably benign	Het
Gal3st4	C	T	5: 138,265,889	G283S	probably benign	Het
Gm5422	A	G	10: 31,250,322		noncoding transcript	Het
Gnal	C	T	18: 67,088,673	T49I	unknown	Het
Gng5	A	G	3: 146,503,348	N57S	probably damaging	Het
Herc1	A	G	9: 66,448,159	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,044,240	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,742,341	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,736,312	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,778,067	E98K	probably damaging	Het
Lepr	G	T	4: 101,773,010		probably benign	Het
Lyst	A	G	13: 13,638,015	H1004R	probably benign	Het
Map3k1	T	A	13: 111,755,764	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,803,504	S107P	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Myo7b	A	G	18: 31,964,386		probably null	Het
Myom1	T	C	17: 71,092,220		probably benign	Het
Nalcn	C	T	14: 123,596,614	V50I	possibly damaging	Het
Negr1	A	G	3: 157,160,748		probably benign	Het
Nlrc5	T	G	8: 94,493,125		probably benign	Het
Nyap2	G	A	1: 81,087,312	D14N	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1490	T	A	19: 13,654,897	I151N	possibly damaging	Het
Olfr91	C	A	17: 37,093,311	G188W	probably damaging	Het
Parp14	A	T	16: 35,841,409	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,027,544	F2347S	probably damaging	Het
Pigf	A	G	17: 87,008,909	V147A	probably benign	Het
Pkhd1	A	T	1: 20,559,469	M637K	probably benign	Het
Plce1	T	C	19: 38,760,138	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,206,648		probably benign	Het
Prag1	T	C	8: 36,103,700	V479A	possibly damaging	Het
Prss33	A	T	17: 23,835,105	D42E	probably benign	Het
Psmb10	A	G	8: 105,937,545	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Psmg1	C	T	16: 95,989,487		probably benign	Het
Rc3h2	A	T	2: 37,376,659		probably null	Het
Reln	C	T	5: 21,920,496	V2730I	probably damaging	Het
Selenoi	A	G	5: 30,266,956	N385S	probably benign	Het
Slc24a4	T	C	12: 102,131,623		probably null	Het
Slc4a10	G	A	2: 62,250,533	S338N	probably benign	Het
Slfn3	A	T	11: 83,213,160	T286S	probably damaging	Het
Snx29	A	G	16: 11,395,303	D111G	probably benign	Het
Sp8	T	C	12: 118,848,565	S52P	possibly damaging	Het
Srek1	G	T	13: 103,760,590	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tatdn2	C	A	6: 113,702,589	D298E	probably benign	Het
Tmem253	A	T	14: 52,017,206		probably benign	Het
Tmem63a	T	A	1: 180,958,049		probably null	Het
Tmprss11b	T	C	5: 86,661,640	D331G	probably damaging	Het
Tor1aip1	T	A	1: 156,007,674	K143*	probably null	Het
Trappc8	A	T	18: 20,844,188	N841K	possibly damaging	Het
Trio	T	C	15: 27,854,963	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306	T114N	probably damaging	Het
Trpv2	C	A	11: 62,582,906	A129D	probably benign	Het
Ttll4	T	G	1: 74,688,618	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,336,649	L172P	possibly damaging	Het
Usp19	T	A	9: 108,494,487	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,805,944	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,357,759	D443E	probably benign	Het
Wee2	A	T	6: 40,463,253	E445V	probably benign	Het
Zer1	A	T	2: 30,101,807	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,402,735	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,309,055	Q157*	probably null	Het
Zfp964	T	A	8: 69,663,937	C396S	unknown	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
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
R7700: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'- GTTTGAAGTGCAGGGTCTCCAGAAG -3'
(R):5'- AAGGCTATGATTCGCAACCTCCAG -3'

Sequencing Primer
(F):5'- CAGGGTCTCCAGAAGAAACATATTG -3'
(R):5'- ACAGTCGAACTACGGTGGTT -3'

Posted On

2013-06-12