Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Sec24c'

279524

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

20674308-20694852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20688402 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 341 (V341A)

Ref Sequence

ENSEMBL: ENSMUSP00000153434 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048657
AA Change: V417A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: V417A

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: V341A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224722

Predicted Effect

probably benign
Transcript: ENSMUST00000224791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224793

Predicted Effect

probably benign
Transcript: ENSMUST00000224876

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,868,357	M98I	probably benign	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Casp2	T	A	6: 42,280,359	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,474,543	D229G	probably damaging	Het
Cog7	G	T	7: 121,963,247	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,104,821	T392S	probably benign	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Mgl2	T	A	11: 70,137,097	I377K	possibly damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Recql4	T	A	15: 76,709,517	Q131L	probably benign	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	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
IGL01924:Sec24c	APN	14	20689689	missense	probably damaging	0.96
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
RF010:Sec24c	UTSW	14	20688715	splice site	probably null

Posted On

2015-04-16