Mutagenetix > Incidental Mutation

Incidental Mutation 'R4659:Sec24c'

352705

Institutional Source

Beutler Lab

Gene Symbol

Sec24c

Ensembl Gene

ENSMUSG00000039367

Gene Name

SEC24 homolog C, COPII coat complex component

Synonyms

2610204K03Rik

MMRRC Submission

041919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4659 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

20724376-20744920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20733212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 180 (G180C)

Ref Sequence

ENSEMBL: ENSMUSP00000045955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048657] [ENSMUST00000223751] [ENSMUST00000224492] [ENSMUST00000224754] [ENSMUST00000224876] [ENSMUST00000225108]

AlphaFold

G3X972

Predicted Effect

probably damaging
Transcript: ENSMUST00000048657
AA Change: G180C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: G180C

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

probably benign
Transcript: ENSMUST00000223751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224061

Predicted Effect

probably benign
Transcript: ENSMUST00000224492

Predicted Effect

probably benign
Transcript: ENSMUST00000224754

Predicted Effect

probably benign
Transcript: ENSMUST00000224876

Predicted Effect

unknown
Transcript: ENSMUST00000228545
AA Change: G30C

Predicted Effect

probably benign
Transcript: ENSMUST00000225108

Meta Mutation Damage Score

0.1160

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (74/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	A	6: 142,618,321 (GRCm39)		probably null	Het
Ankrd22	C	T	19: 34,102,968 (GRCm39)	V118I	probably damaging	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Arap2	T	C	5: 62,811,469 (GRCm39)	N1114S	possibly damaging	Het
AU021092	C	G	16: 5,030,011 (GRCm39)	A335P	probably damaging	Het
Carhsp1	T	C	16: 8,482,129 (GRCm39)	T51A	probably benign	Het
Cdc42bpb	T	C	12: 111,306,325 (GRCm39)	D152G	probably damaging	Het
Cep70	T	A	9: 99,178,394 (GRCm39)	D497E	possibly damaging	Het
Chrm5	T	C	2: 112,310,102 (GRCm39)	N338S	probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clhc1	T	A	11: 29,528,229 (GRCm39)	*586K	probably null	Het
Cplane1	G	T	15: 8,245,760 (GRCm39)		probably benign	Het
Dop1a	T	A	9: 86,384,085 (GRCm39)		probably benign	Het
Dync1h1	T	C	12: 110,595,201 (GRCm39)	F1371S	possibly damaging	Het
Eif6	A	G	2: 155,668,101 (GRCm39)	I46T	probably damaging	Het
Esco2	G	A	14: 66,064,035 (GRCm39)	T383M	possibly damaging	Het
Exoc8	T	C	8: 125,624,271 (GRCm39)	D32G	probably damaging	Het
Fam149b	G	T	14: 20,417,941 (GRCm39)	S216I	probably benign	Het
Fam219a	T	C	4: 41,521,645 (GRCm39)	D87G	probably null	Het
Fbxw26	A	T	9: 109,573,939 (GRCm39)	V71D	probably damaging	Het
Gabra4	T	A	5: 71,798,487 (GRCm39)	K164M	probably damaging	Het
Gm57858	T	C	3: 36,080,103 (GRCm39)	D218G	possibly damaging	Het
Gm8603	G	A	17: 13,737,290 (GRCm39)		noncoding transcript	Het
Gnmt	A	G	17: 47,036,892 (GRCm39)	F239S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcnj1	A	T	9: 32,305,444 (GRCm39)	D2V	probably benign	Het
Limch1	C	T	5: 67,184,900 (GRCm39)	R797C	probably damaging	Het
Lrrc9	T	A	12: 72,517,038 (GRCm39)	F597I	probably damaging	Het
Lrriq3	T	A	3: 154,835,090 (GRCm39)	I275N	possibly damaging	Het
Mcoln1	T	A	8: 3,560,840 (GRCm39)	S387R	probably damaging	Het
Mgst3	T	A	1: 167,204,848 (GRCm39)	Q58L	probably damaging	Het
Mical1	G	A	10: 41,362,932 (GRCm39)		probably benign	Het
Mmp3	C	A	9: 7,453,673 (GRCm39)	D431E	probably benign	Het
Mx1	T	C	16: 97,256,439 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,734,673 (GRCm39)	L607P	probably damaging	Het
Myt1l	A	G	12: 29,899,456 (GRCm39)	N153D	probably damaging	Het
Nfu1	A	T	6: 86,996,408 (GRCm39)	T120S	probably damaging	Het
Nhlrc2	T	C	19: 56,564,699 (GRCm39)	V341A	possibly damaging	Het
Notch1	T	C	2: 26,360,901 (GRCm39)	E1148G	probably damaging	Het
Nqo1	C	T	8: 108,117,676 (GRCm39)		probably null	Het
Nwd1	T	A	8: 73,421,949 (GRCm39)	D998E	probably benign	Het
Or8k18	G	A	2: 86,085,357 (GRCm39)	Q227*	probably null	Het
Oxct2a	T	C	4: 123,216,473 (GRCm39)	I303V	probably benign	Het
Parp10	A	T	15: 76,127,185 (GRCm39)	D58E	probably damaging	Het
Pcdha6	T	A	18: 37,102,292 (GRCm39)	V495E	probably damaging	Het
Pitrm1	T	A	13: 6,603,218 (GRCm39)	S88R	probably benign	Het
Pxdn	T	C	12: 30,044,552 (GRCm39)	V510A	probably benign	Het
Ranbp17	T	A	11: 33,216,288 (GRCm39)	D820V	probably damaging	Het
Serpina3n	T	C	12: 104,379,752 (GRCm39)	S382P	probably benign	Het
Sestd1	A	T	2: 77,042,843 (GRCm39)	M237K	probably null	Het
Sf3a2	T	C	10: 80,639,418 (GRCm39)	I136T	probably damaging	Het
Sh3tc2	A	G	18: 62,107,580 (GRCm39)	Y197C	probably benign	Het
Speer4b	T	C	5: 27,702,893 (GRCm39)	K204E	probably benign	Het
Speer4f1	A	C	5: 17,681,221 (GRCm39)	E33A	possibly damaging	Het
Sspo	T	A	6: 48,461,147 (GRCm39)	D3529E	probably damaging	Het
Stard13	T	C	5: 150,986,253 (GRCm39)	D419G	probably benign	Het
Tg	A	G	15: 66,545,769 (GRCm39)	S164G	possibly damaging	Het
Thap12	A	G	7: 98,359,298 (GRCm39)		probably benign	Het
Thsd1	C	A	8: 22,749,314 (GRCm39)	Y667*	probably null	Het
Tnks	A	C	8: 35,316,465 (GRCm39)	Y885D	possibly damaging	Het
Ttll3	A	G	6: 113,391,102 (GRCm39)	I896V	probably benign	Het
Txnip	T	G	3: 96,466,743 (GRCm39)	F190C	probably damaging	Het
Urb1	T	C	16: 90,573,017 (GRCm39)	D1005G	probably damaging	Het
Usp3	T	C	9: 66,434,352 (GRCm39)		probably null	Het
Usp54	G	T	14: 20,615,060 (GRCm39)	Q794K	probably damaging	Het
Xrn2	A	G	2: 146,903,394 (GRCm39)	Q798R	probably benign	Het
Zfp189	A	G	4: 49,530,342 (GRCm39)	I482V	probably benign	Het
Zfp28	A	G	7: 6,396,506 (GRCm39)	N314D	probably benign	Het
Zmym4	A	G	4: 126,842,221 (GRCm39)		probably null	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
R1920:Sec24c	UTSW	14	20,736,955 (GRCm39)	missense	probably damaging	0.99
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
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'- TTTGAACCCCAGATGCAGGG -3'
(R):5'- TTCACTGGAAGACTCCCAAAGC -3'

Sequencing Primer
(F):5'- CCAGATGCAGGGACAGTCTTTTG -3'
(R):5'- GGAAGACTCCCAAAGCCCTGTC -3'

Posted On

2015-10-08