Mutagenetix > Incidental Mutation

Incidental Mutation 'R1702:Sec24c'

189828

Institutional Source

Beutler Lab

Gene Symbol

Sec24c

Ensembl Gene

ENSMUSG00000039367

Gene Name

SEC24 homolog C, COPII coat complex component

Synonyms

2610204K03Rik

MMRRC Submission

039735-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20724376-20744920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20736641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 226 (G226V)

Gene Model

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

AlphaFold

G3X972

Predicted Effect

probably damaging
Transcript: ENSMUST00000048657
AA Change: G353V

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

SMART Domains

Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: G353V

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: G277V

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

Predicted Effect

probably null
Transcript: ENSMUST00000224492

Predicted Effect

probably benign
Transcript: ENSMUST00000224791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224793

Predicted Effect

probably null
Transcript: ENSMUST00000228545
AA Change: G226V

Predicted Effect

probably benign
Transcript: ENSMUST00000224876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225566

Predicted Effect

probably null
Transcript: ENSMUST00000225108

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,981,925 (GRCm39)	V1080A	probably benign	Het
Abcg4	A	C	9: 44,186,370 (GRCm39)	V553G	probably damaging	Het
Ache	T	C	5: 137,289,251 (GRCm39)	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,172,787 (GRCm39)	M134K	possibly damaging	Het
Ank2	A	T	3: 126,749,548 (GRCm39)	S494T	probably benign	Het
Asic3	A	T	5: 24,620,454 (GRCm39)	T202S	probably damaging	Het
Baiap3	T	A	17: 25,463,779 (GRCm39)	H886L	probably damaging	Het
Bltp2	T	A	11: 78,179,854 (GRCm39)	C2126S	probably damaging	Het
Cidea	T	A	18: 67,499,491 (GRCm39)	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,751,903 (GRCm39)	K366T	probably benign	Het
Cntrl	A	T	2: 35,061,848 (GRCm39)		probably null	Het
Crhr2	A	G	6: 55,069,520 (GRCm39)	F378S	probably damaging	Het
Deaf1	C	G	7: 140,894,867 (GRCm39)	R303T	probably damaging	Het
Dnah9	T	A	11: 65,976,021 (GRCm39)	N1343Y	possibly damaging	Het
Dop1b	A	G	16: 93,544,509 (GRCm39)	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,216,773 (GRCm39)		probably null	Het
Dst	T	C	1: 34,206,421 (GRCm39)	V598A	probably damaging	Het
Ece2	C	T	16: 20,449,996 (GRCm39)	R136C	probably damaging	Het
Efcab3	C	T	11: 104,581,832 (GRCm39)	P58L	probably benign	Het
Egf	C	A	3: 129,484,460 (GRCm39)	V453L	probably benign	Het
Egr3	T	A	14: 70,317,216 (GRCm39)	F342L	probably damaging	Het
Eif2ak2	A	T	17: 79,164,063 (GRCm39)	I434N	probably damaging	Het
Emc1	A	G	4: 139,102,512 (GRCm39)	T936A	probably damaging	Het
Fmod	A	T	1: 133,968,500 (GRCm39)	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,634,848 (GRCm39)	T112A	probably damaging	Het
Gak	T	C	5: 108,754,242 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,603,089 (GRCm39)		probably null	Het
Gm2381	T	A	7: 42,469,655 (GRCm39)	Q156H	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Homez	T	A	14: 55,094,452 (GRCm39)	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,056,617 (GRCm39)	Y184*	probably null	Het
Il11	A	G	7: 4,776,733 (GRCm39)	S86P	probably damaging	Het
Itgal	A	G	7: 126,904,197 (GRCm39)	N270S	probably benign	Het
Lama2	T	C	10: 27,066,525 (GRCm39)	R1119G	probably benign	Het
Lamp3	G	T	16: 19,494,822 (GRCm39)	N294K	probably benign	Het
Mars1	T	C	10: 127,145,948 (GRCm39)	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,839,485 (GRCm39)	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,518 (GRCm39)	I65T	probably benign	Het
Mmrn2	A	T	14: 34,119,871 (GRCm39)	N247I	probably benign	Het
Muc6	G	T	7: 141,236,752 (GRCm39)	N322K	probably damaging	Het
Mx2	A	G	16: 97,359,883 (GRCm39)	H551R	probably benign	Het
Mylk	T	A	16: 34,742,314 (GRCm39)	V942E	probably benign	Het
Nes	A	G	3: 87,883,286 (GRCm39)	E515G	probably benign	Het
Nfatc3	T	G	8: 106,818,792 (GRCm39)	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339 (GRCm39)		probably null	Het
Noxa1	A	G	2: 24,982,596 (GRCm39)	V73A	probably damaging	Het
Nup160	A	T	2: 90,514,302 (GRCm39)	E83D	probably damaging	Het
Or12j3	A	T	7: 139,952,655 (GRCm39)	Y289*	probably null	Het
Or4z4	C	A	19: 12,076,530 (GRCm39)	V158L	probably benign	Het
Or5ac23	C	A	16: 59,149,504 (GRCm39)	V123L	probably benign	Het
Or8b56	A	G	9: 38,739,839 (GRCm39)	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,046,187 (GRCm39)		probably null	Het
Rundc3b	A	G	5: 8,562,318 (GRCm39)	V350A	probably benign	Het
Scn1a	C	T	2: 66,148,567 (GRCm39)	D993N	probably damaging	Het
Septin11	T	A	5: 93,304,783 (GRCm39)	I200N	probably damaging	Het
Shank3	G	T	15: 89,384,099 (GRCm39)	G14C	probably damaging	Het
Skic3	A	G	13: 76,270,862 (GRCm39)	K153R	possibly damaging	Het
Slc25a39	T	C	11: 102,297,452 (GRCm39)	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,412,852 (GRCm39)	T169S	probably benign	Het
Taf1b	T	A	12: 24,559,125 (GRCm39)	I83K	possibly damaging	Het
Tarbp1	T	A	8: 127,154,957 (GRCm39)	Q1389L	probably damaging	Het
Thbs1	T	A	2: 117,943,923 (GRCm39)	D180E	probably benign	Het
Tmc5	T	A	7: 118,271,462 (GRCm39)	V925D	probably benign	Het
Tmem62	T	C	2: 120,809,708 (GRCm39)	V130A	probably damaging	Het
Tpp2	C	T	1: 44,029,708 (GRCm39)	P997L	probably damaging	Het
Trip12	A	T	1: 84,722,784 (GRCm39)	I127N	probably damaging	Het
Upp2	T	C	2: 58,661,562 (GRCm39)	F142L	possibly damaging	Het
Usf3	C	T	16: 44,039,995 (GRCm39)	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840 (GRCm39)	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,652,394 (GRCm39)	V186I	possibly damaging	Het
Washc2	T	C	6: 116,206,267 (GRCm39)	S496P	probably damaging	Het
Wee2	T	C	6: 40,441,135 (GRCm39)	I480T	probably benign	Het
Xylt2	T	A	11: 94,559,571 (GRCm39)	H357L	probably damaging	Het
Zbed4	T	C	15: 88,665,056 (GRCm39)	S375P	probably damaging	Het
Zfp442	A	T	2: 150,251,100 (GRCm39)	Y266*	probably null	Het
Zfp600	A	G	4: 146,133,497 (GRCm39)	T722A	probably benign	Het
Zfp976	T	A	7: 42,265,424 (GRCm39)	H55L	possibly damaging	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
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
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'- GCAAGTTACCTGTTCGTGTGCTACC -3'
(R):5'- ACAGAAGCCTTGTTGATACCAGCTC -3'

Sequencing Primer
(F):5'- CGTGTGCTACCTGCTGTG -3'
(R):5'- CAGTAGCTTTTAGACCCTGAAGGAC -3'

Posted On

2014-05-14