Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Sec24c'

180207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec24c

Ensembl Gene

ENSMUSG00000039367

Gene Name

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

Synonyms

2610204K03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

20674308-20694852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20689689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 545 (F545I)

Ref Sequence

ENSEMBL: ENSMUSP00000153434 (fasta)

Gene Model

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

AlphaFold

G3X972

Predicted Effect

probably benign
Transcript: ENSMUST00000048657
AA Change: F621I

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: F621I

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: F545I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224722

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224791
AA Change: F100I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225903

Predicted Effect

probably benign
Transcript: ENSMUST00000228545

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986		probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453		probably benign	Het
Chit1	A	G	1: 134,149,410	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019		probably benign	Het
Cobl	G	T	11: 12,254,596	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255		probably null	Het
Khnyn	A	G	14: 55,894,969	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696		probably benign	Het
Myom2	A	G	8: 15,069,685	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830	C247*	probably null	Het
Nup54	G	A	5: 92,424,435	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304	L233H	probably damaging	Het
Slc6a15	T	C	10: 103,404,825		probably null	Het
Slitrk1	G	A	14: 108,911,239	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783	H139N	possibly damaging	Het

Other mutations in Sec24c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Sec24c	APN	14	20693203	missense	probably benign	0.03
IGL00574:Sec24c	APN	14	20692395	missense	probably damaging	0.99
IGL01514:Sec24c	APN	14	20682771	missense	possibly damaging	0.78
IGL02094:Sec24c	APN	14	20688402	missense	probably damaging	1.00
IGL02677:Sec24c	APN	14	20689642	missense	probably damaging	0.98
IGL02871:Sec24c	APN	14	20692882	missense	probably benign
Kahuna	UTSW	14	20690773	missense	probably damaging	0.99
R0010:Sec24c	UTSW	14	20689261	unclassified	probably benign
R0335:Sec24c	UTSW	14	20688715	splice site	probably null
R0487:Sec24c	UTSW	14	20683399	missense	probably benign	0.01
R0609:Sec24c	UTSW	14	20686948	missense	probably damaging	1.00
R0626:Sec24c	UTSW	14	20688437	missense	probably damaging	1.00
R0734:Sec24c	UTSW	14	20693745	missense	probably damaging	1.00
R0854:Sec24c	UTSW	14	20689340	missense	probably damaging	1.00
R1036:Sec24c	UTSW	14	20692897	missense	probably benign	0.14
R1405:Sec24c	UTSW	14	20692525	splice site	probably null
R1405:Sec24c	UTSW	14	20692525	splice site	probably null
R1702:Sec24c	UTSW	14	20686573	missense	probably null
R1765:Sec24c	UTSW	14	20688854	unclassified	probably benign
R1913:Sec24c	UTSW	14	20689111	missense	probably benign	0.06
R1920:Sec24c	UTSW	14	20686887	missense	probably damaging	0.99
R2084:Sec24c	UTSW	14	20691279	missense	probably benign	0.00
R3778:Sec24c	UTSW	14	20683307	missense	possibly damaging	0.63
R4383:Sec24c	UTSW	14	20690773	missense	probably damaging	0.99
R4385:Sec24c	UTSW	14	20690773	missense	probably damaging	0.99
R4659:Sec24c	UTSW	14	20683144	missense	probably damaging	0.99
R4798:Sec24c	UTSW	14	20693712	missense	probably damaging	1.00
R4872:Sec24c	UTSW	14	20693745	missense	probably damaging	1.00
R5210:Sec24c	UTSW	14	20691804	missense	probably damaging	1.00
R5345:Sec24c	UTSW	14	20693220	missense	probably benign	0.00
R5610:Sec24c	UTSW	14	20691825	missense	probably damaging	1.00
R5614:Sec24c	UTSW	14	20682738	missense	possibly damaging	0.92
R5646:Sec24c	UTSW	14	20679573	missense	probably benign	0.01
R6460:Sec24c	UTSW	14	20690800	missense	probably damaging	1.00
R7181:Sec24c	UTSW	14	20689333	missense	probably damaging	1.00
R8228:Sec24c	UTSW	14	20689907	missense	probably benign	0.05
R8512:Sec24c	UTSW	14	20690852	missense	possibly damaging	0.67
R8679:Sec24c	UTSW	14	20692859	missense	possibly damaging	0.89
R9340:Sec24c	UTSW	14	20679530	missense	probably benign	0.00
RF010:Sec24c	UTSW	14	20688715	splice site	probably null

Posted On

2014-05-07