Mutagenetix > Incidental Mutation

Incidental Mutation 'R1920:Sec24c'

212985

Institutional Source

Beutler Lab

Gene Symbol

Sec24c

Ensembl Gene

ENSMUSG00000039367

Gene Name

SEC24 homolog C, COPII coat complex component

Synonyms

2610204K03Rik

MMRRC Submission

039938-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20724376-20744920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20736955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 304 (S304P)

Ref Sequence

ENSEMBL: ENSMUSP00000153434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048657] [ENSMUST00000223751] [ENSMUST00000224492] [ENSMUST00000224791] [ENSMUST00000224876] [ENSMUST00000225108]

AlphaFold

G3X972

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048657
AA Change: S380P

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: S380P

Domain	Start	End	E-Value	Type
low complexity region	28	47	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	183	194	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	256	279	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC
Pfam:zf-Sec23_Sec24	424	462	8.2e-17	PFAM
Pfam:Sec23_trunk	501	745	7.3e-94	PFAM
Pfam:Sec23_BS	750	834	8e-20	PFAM
Pfam:Sec23_helical	847	948	2.3e-30	PFAM
Pfam:Gelsolin	963	1038	1.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183515

Predicted Effect

probably damaging
Transcript: ENSMUST00000223751
AA Change: S304P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000224492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224722

Predicted Effect

probably benign
Transcript: ENSMUST00000224791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224793

Predicted Effect

probably benign
Transcript: ENSMUST00000228545

Predicted Effect

probably benign
Transcript: ENSMUST00000224876

Predicted Effect

probably benign
Transcript: ENSMUST00000225108

Meta Mutation Damage Score

0.1981

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

Validation Efficiency

98% (101/103)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display complete embryonic lethality between implantation and placentation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,828 (GRCm39)	V77A	probably benign	Het
Actl7a	G	A	4: 56,744,135 (GRCm39)	V221M	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgef10	C	T	8: 15,006,987 (GRCm39)		probably benign	Het
Asgr2	T	C	11: 69,989,123 (GRCm39)	L86P	possibly damaging	Het
Atp12a	A	G	14: 56,624,308 (GRCm39)	R919G	probably benign	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
B3gnt5	T	G	16: 19,588,294 (GRCm39)	L171R	probably benign	Het
Bbof1	T	A	12: 84,457,859 (GRCm39)	N41K	possibly damaging	Het
Bdp1	A	T	13: 100,235,097 (GRCm39)	W166R	probably benign	Het
Bean1	A	T	8: 104,937,742 (GRCm39)	H107L	possibly damaging	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cep78	G	A	19: 15,951,715 (GRCm39)		probably benign	Het
Cfap70	C	T	14: 20,445,020 (GRCm39)	A1087T	probably damaging	Het
Cideb	A	G	14: 55,992,700 (GRCm39)	V72A	probably benign	Het
Cpz	T	C	5: 35,675,012 (GRCm39)	E79G	probably damaging	Het
Crybg1	A	G	10: 43,873,544 (GRCm39)	L1188P	probably damaging	Het
Cuzd1	G	A	7: 130,911,425 (GRCm39)	P518L	probably benign	Het
Cyp2j5	A	T	4: 96,551,491 (GRCm39)	N77K	probably damaging	Het
Cyp4f39	T	G	17: 32,702,265 (GRCm39)	F254C	probably benign	Het
Dkk1	C	A	19: 30,524,731 (GRCm39)	V225L	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Dll3	T	C	7: 27,998,348 (GRCm39)	T206A	probably benign	Het
Dnhd1	T	C	7: 105,362,614 (GRCm39)	C3766R	probably benign	Het
Dock9	G	T	14: 121,820,792 (GRCm39)	S1534Y	probably damaging	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
F2r	A	G	13: 95,740,698 (GRCm39)	F279S	probably damaging	Het
Farp1	C	A	14: 121,492,908 (GRCm39)	N503K	probably benign	Het
Fbxw2	G	A	2: 34,712,776 (GRCm39)	T95I	probably damaging	Het
Fis1	A	G	5: 136,994,461 (GRCm39)	T50A	probably benign	Het
Frzb	T	G	2: 80,276,772 (GRCm39)	E138A	probably damaging	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Fyco1	C	T	9: 123,659,478 (GRCm39)	D233N	probably damaging	Het
Gmpr	A	G	13: 45,667,997 (GRCm39)		probably benign	Het
Hc	C	T	2: 34,919,407 (GRCm39)		probably benign	Het
Hnrnpa1	T	C	15: 103,150,699 (GRCm39)	M186T	possibly damaging	Het
Kl	A	G	5: 150,906,132 (GRCm39)	K501E	probably benign	Het
Klhl42	A	G	6: 147,009,427 (GRCm39)	N422S	probably damaging	Het
Kmt2d	C	G	15: 98,753,471 (GRCm39)	K127N	probably damaging	Het
Kmt2d	T	A	15: 98,753,472 (GRCm39)	K127M	probably damaging	Het
Krt39	T	A	11: 99,405,461 (GRCm39)	T480S	probably benign	Het
Lims2	T	A	18: 32,088,395 (GRCm39)	C198*	probably null	Het
Mctp1	A	G	13: 76,532,729 (GRCm39)	N26D	possibly damaging	Het
Mdm4	A	G	1: 132,931,538 (GRCm39)	S168P	probably benign	Het
Myo3a	A	G	2: 22,455,008 (GRCm39)	Y71C	probably benign	Het
Nlrp9c	T	A	7: 26,084,319 (GRCm39)	D420V	probably damaging	Het
Ntf3	A	T	6: 126,079,485 (GRCm39)	I7N	possibly damaging	Het
Or10ag52	G	A	2: 87,043,721 (GRCm39)	G162S	probably benign	Het
Or13c25	G	T	4: 52,910,849 (GRCm39)	T315K	probably benign	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Papln	C	A	12: 83,836,028 (GRCm39)	Y1222*	probably null	Het
Pgm3	T	G	9: 86,440,531 (GRCm39)	I387L	possibly damaging	Het
Pira12	G	C	7: 3,900,871 (GRCm39)	P20R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plcb4	T	A	2: 135,854,947 (GRCm39)	V1174E	probably damaging	Het
Polr1b	A	G	2: 128,943,031 (GRCm39)	N9D	probably benign	Het
Prkaa2	G	A	4: 104,893,950 (GRCm39)	Q456*	probably null	Het
Ptch2	G	T	4: 116,965,858 (GRCm39)	V425L	probably benign	Het
Ptprh	A	T	7: 4,552,394 (GRCm39)	S957T	probably benign	Het
Riok1	A	G	13: 38,241,177 (GRCm39)	D444G	probably benign	Het
Rrbp1	A	T	2: 143,830,211 (GRCm39)	V652E	probably benign	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Serpinb6b	A	T	13: 33,158,991 (GRCm39)	D64V	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,531 (GRCm39)		probably null	Het
Six6	T	A	12: 72,988,538 (GRCm39)	I237N	probably damaging	Het
Slc25a36	A	T	9: 96,975,135 (GRCm39)	M127K	probably benign	Het
Slc2a10	A	G	2: 165,356,550 (GRCm39)	D70G	probably damaging	Het
Slc2a3	T	A	6: 122,713,700 (GRCm39)	I171F	probably damaging	Het
Smc4	A	G	3: 68,940,401 (GRCm39)	T1087A	probably damaging	Het
Spg21	A	G	9: 65,391,779 (GRCm39)	Y242C	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Stx2	G	A	5: 129,065,903 (GRCm39)	T251M	probably damaging	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Tasor2	A	T	13: 3,626,612 (GRCm39)	Y1113N	possibly damaging	Het
Tbc1d31	G	A	15: 57,775,760 (GRCm39)	R17H	probably damaging	Het
Tbl3	G	A	17: 24,923,477 (GRCm39)	T284I	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tgoln1	T	C	6: 72,593,084 (GRCm39)	E132G	probably benign	Het
Timeless	T	C	10: 128,077,583 (GRCm39)	I221T	probably damaging	Het
Tmem176b	C	T	6: 48,815,138 (GRCm39)	A52T	possibly damaging	Het
Tmem192	C	T	8: 65,418,235 (GRCm39)	L207F	probably damaging	Het
Trank1	T	C	9: 111,176,996 (GRCm39)		probably null	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Tubb5	T	C	17: 36,146,190 (GRCm39)	Y340C	probably benign	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vcan	T	C	13: 89,841,134 (GRCm39)	E1470G	probably damaging	Het
Vmn1r200	T	A	13: 22,579,663 (GRCm39)	N146K	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r61	T	C	7: 41,949,710 (GRCm39)	I710T	possibly damaging	Het
Wipf1	T	A	2: 73,270,499 (GRCm39)	K61N	probably benign	Het
Zfp112	T	C	7: 23,824,662 (GRCm39)	V210A	probably benign	Het
Zfp612	G	A	8: 110,815,095 (GRCm39)	V101M	probably benign	Het
Zfp637	A	G	6: 117,822,681 (GRCm39)	R270G	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	possibly damaging	Het
Zfp97	A	G	17: 17,365,265 (GRCm39)	I255V	probably benign	Het

Other mutations in Sec24c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Sec24c	APN	14	20,743,271 (GRCm39)	missense	probably benign	0.03
IGL00574:Sec24c	APN	14	20,742,463 (GRCm39)	missense	probably damaging	0.99
IGL01514:Sec24c	APN	14	20,732,839 (GRCm39)	missense	possibly damaging	0.78
IGL01924:Sec24c	APN	14	20,739,757 (GRCm39)	missense	probably damaging	0.96
IGL02094:Sec24c	APN	14	20,738,470 (GRCm39)	missense	probably damaging	1.00
IGL02677:Sec24c	APN	14	20,739,710 (GRCm39)	missense	probably damaging	0.98
IGL02871:Sec24c	APN	14	20,742,950 (GRCm39)	missense	probably benign
Kahuna	UTSW	14	20,740,841 (GRCm39)	missense	probably damaging	0.99
R0010:Sec24c	UTSW	14	20,739,329 (GRCm39)	unclassified	probably benign
R0335:Sec24c	UTSW	14	20,738,783 (GRCm39)	splice site	probably null
R0487:Sec24c	UTSW	14	20,733,467 (GRCm39)	missense	probably benign	0.01
R0609:Sec24c	UTSW	14	20,737,016 (GRCm39)	missense	probably damaging	1.00
R0626:Sec24c	UTSW	14	20,738,505 (GRCm39)	missense	probably damaging	1.00
R0734:Sec24c	UTSW	14	20,743,813 (GRCm39)	missense	probably damaging	1.00
R0854:Sec24c	UTSW	14	20,739,408 (GRCm39)	missense	probably damaging	1.00
R1036:Sec24c	UTSW	14	20,742,965 (GRCm39)	missense	probably benign	0.14
R1405:Sec24c	UTSW	14	20,742,593 (GRCm39)	splice site	probably null
R1405:Sec24c	UTSW	14	20,742,593 (GRCm39)	splice site	probably null
R1702:Sec24c	UTSW	14	20,736,641 (GRCm39)	missense	probably null
R1765:Sec24c	UTSW	14	20,738,922 (GRCm39)	unclassified	probably benign
R1913:Sec24c	UTSW	14	20,739,179 (GRCm39)	missense	probably benign	0.06
R2084:Sec24c	UTSW	14	20,741,347 (GRCm39)	missense	probably benign	0.00
R3778:Sec24c	UTSW	14	20,733,375 (GRCm39)	missense	possibly damaging	0.63
R4383:Sec24c	UTSW	14	20,740,841 (GRCm39)	missense	probably damaging	0.99
R4385:Sec24c	UTSW	14	20,740,841 (GRCm39)	missense	probably damaging	0.99
R4659:Sec24c	UTSW	14	20,733,212 (GRCm39)	missense	probably damaging	0.99
R4798:Sec24c	UTSW	14	20,743,780 (GRCm39)	missense	probably damaging	1.00
R4872:Sec24c	UTSW	14	20,743,813 (GRCm39)	missense	probably damaging	1.00
R5210:Sec24c	UTSW	14	20,741,872 (GRCm39)	missense	probably damaging	1.00
R5345:Sec24c	UTSW	14	20,743,288 (GRCm39)	missense	probably benign	0.00
R5610:Sec24c	UTSW	14	20,741,893 (GRCm39)	missense	probably damaging	1.00
R5614:Sec24c	UTSW	14	20,732,806 (GRCm39)	missense	possibly damaging	0.92
R5646:Sec24c	UTSW	14	20,729,641 (GRCm39)	missense	probably benign	0.01
R6460:Sec24c	UTSW	14	20,740,868 (GRCm39)	missense	probably damaging	1.00
R7181:Sec24c	UTSW	14	20,739,401 (GRCm39)	missense	probably damaging	1.00
R8228:Sec24c	UTSW	14	20,739,975 (GRCm39)	missense	probably benign	0.05
R8512:Sec24c	UTSW	14	20,740,920 (GRCm39)	missense	possibly damaging	0.67
R8679:Sec24c	UTSW	14	20,742,927 (GRCm39)	missense	possibly damaging	0.89
R9340:Sec24c	UTSW	14	20,729,598 (GRCm39)	missense	probably benign	0.00
RF010:Sec24c	UTSW	14	20,738,783 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCTATCAGCTATGGATCATG -3'
(R):5'- CTTCCATGCCAGCCAGAATC -3'

Sequencing Primer
(F):5'- GTCTTAAGAGACCAGTCCCTCC -3'
(R):5'- TGCCAGCCAGAATCCCATCTAG -3'

Posted On

2014-07-14