Mutagenetix > Incidental Mutation

Incidental Mutation 'R7072:Sec24d'

548943

Institutional Source

Beutler Lab

Gene Symbol

Sec24d

Ensembl Gene

ENSMUSG00000039234

Gene Name

SEC24 homolog D, COPII coat complex component

Synonyms

LOC383951, 2310020L09Rik

MMRRC Submission

045168-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123061104-123159290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123124000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 403 (D403G)

Ref Sequence

ENSEMBL: ENSMUSP00000035823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047923]

AlphaFold

Q6NXL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000047923
AA Change: D403G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: D403G

Domain	Start	End	E-Value	Type
low complexity region	46	71	N/A	INTRINSIC
low complexity region	75	87	N/A	INTRINSIC
low complexity region	136	160	N/A	INTRINSIC
low complexity region	197	222	N/A	INTRINSIC
low complexity region	238	256	N/A	INTRINSIC
Pfam:zf-Sec23_Sec24	360	398	1.8e-16	PFAM
Pfam:Sec23_trunk	437	681	3.6e-88	PFAM
Pfam:Sec23_BS	686	770	2e-20	PFAM
Pfam:Sec23_helical	783	884	1e-27	PFAM
Pfam:Gelsolin	899	974	4.2e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. A hypomorphic gene trap allele results in lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,967,592 (GRCm39)	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,553,934 (GRCm39)	F90L	probably benign	Het
Ahnak2	T	A	12: 112,751,786 (GRCm39)	Q23L		Het
Anpep	A	T	7: 79,485,127 (GRCm39)	L620I	possibly damaging	Het
Bpi	T	C	2: 158,113,998 (GRCm39)	S299P	probably damaging	Het
Bpifa2	A	G	2: 153,853,293 (GRCm39)	D132G	probably damaging	Het
Brd7	T	A	8: 89,073,615 (GRCm39)	E258D	probably benign	Het
Btc	T	C	5: 91,550,796 (GRCm39)		probably benign	Het
Cacna1c	A	G	6: 118,573,067 (GRCm39)	V2039A		Het
Calm4	T	A	13: 3,888,275 (GRCm39)	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766 (GRCm39)	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,748,803 (GRCm39)	V80A	unknown	Het
Ccdc33	A	G	9: 58,019,267 (GRCm39)	*279R	probably null	Het
Cercam	T	A	2: 29,771,936 (GRCm39)	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,429,296 (GRCm39)	D138G	probably benign	Het
Cox4i2	T	C	2: 152,602,573 (GRCm39)	F89S	probably damaging	Het
Crb1	G	A	1: 139,165,013 (GRCm39)	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,322,967 (GRCm39)		probably null	Het
Ctsj	C	A	13: 61,150,897 (GRCm39)	E187*	probably null	Het
Dagla	A	T	19: 10,233,659 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,458,912 (GRCm39)	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,472,812 (GRCm39)	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,057,465 (GRCm39)	L236Q	probably damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Frmd5	A	T	2: 121,388,351 (GRCm39)	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,106,749 (GRCm39)	T662A	probably benign	Het
Gins1	C	T	2: 150,751,671 (GRCm39)		probably null	Het
Gli3	T	A	13: 15,900,280 (GRCm39)	N1222K	possibly damaging	Het
Gm4302	G	T	10: 100,177,521 (GRCm39)	Q268H	unknown	Het
Grin2d	A	T	7: 45,506,922 (GRCm39)	W518R	probably damaging	Het
Grm5	A	T	7: 87,723,512 (GRCm39)	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,596,365 (GRCm39)	N193K	probably benign	Het
Igdcc4	T	G	9: 65,038,013 (GRCm39)	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,318,396 (GRCm39)	F13I	probably benign	Het
Kctd11	T	A	11: 69,770,621 (GRCm39)	N139I	probably benign	Het
Lmo7	G	A	14: 102,136,136 (GRCm39)		probably null	Het
Lrrk2	A	T	15: 91,686,123 (GRCm39)	M2155L	probably benign	Het
Ly6g6g	C	T	15: 74,644,119 (GRCm39)	V66M		Het
Mettl24	A	C	10: 40,559,509 (GRCm39)	H53P	probably benign	Het
Mier2	A	G	10: 79,376,133 (GRCm39)	M264T	unknown	Het
Mplkip	T	C	13: 17,870,122 (GRCm39)	I18T	unknown	Het
Mtmr2	T	C	9: 13,699,916 (GRCm39)	V101A	probably benign	Het
Nbeal2	G	T	9: 110,455,119 (GRCm39)	T2593K	probably benign	Het
Neu3	A	T	7: 99,463,404 (GRCm39)	C106*	probably null	Het
Nutm1	T	C	2: 112,082,192 (GRCm39)	T295A	probably benign	Het
Or2h2b-ps1	A	G	17: 37,481,269 (GRCm39)	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,850,329 (GRCm39)	V779L	probably benign	Het
Pde10a	A	G	17: 9,161,858 (GRCm39)	E231G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plcg2	T	A	8: 118,316,574 (GRCm39)		probably null	Het
Pofut2	T	C	10: 77,095,263 (GRCm39)	L36P	probably benign	Het
Pou6f2	T	C	13: 18,299,754 (GRCm39)	N635S		Het
Pramel14	A	C	4: 143,720,698 (GRCm39)	I81R	probably damaging	Het
Ptpra	T	C	2: 130,395,350 (GRCm39)	Y818H	probably damaging	Het
Rad18	T	C	6: 112,658,401 (GRCm39)	E168G	probably benign	Het
Rev1	C	A	1: 38,106,626 (GRCm39)	E634*	probably null	Het
Sema5a	C	A	15: 32,575,105 (GRCm39)	H404Q	possibly damaging	Het
Shank1	A	G	7: 43,994,370 (GRCm39)	S844G	unknown	Het
Slc32a1	T	A	2: 158,453,416 (GRCm39)	Y85*	probably null	Het
Slc39a4	T	C	15: 76,497,458 (GRCm39)	T485A	probably damaging	Het
Sp5	A	C	2: 70,307,074 (GRCm39)	Q253P	probably benign	Het
Sspo	A	T	6: 48,431,913 (GRCm39)	D709V	probably damaging	Het
Sucnr1	A	G	3: 59,993,604 (GRCm39)	Y44C	probably damaging	Het
Taar8b	A	G	10: 23,967,876 (GRCm39)	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,991,494 (GRCm39)	D922G	probably damaging	Het
Tbx6	A	T	7: 126,383,912 (GRCm39)	D322V	probably benign	Het
Tex15	T	A	8: 34,065,459 (GRCm39)	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,432,327 (GRCm39)	P880S	probably benign	Het
Uck1	C	T	2: 32,148,178 (GRCm39)	R182Q	probably damaging	Het
Utrn	T	A	10: 12,340,957 (GRCm39)	H2840L	probably damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Wnk1	A	T	6: 119,914,822 (GRCm39)	I1909N	unknown	Het
Zfp352	C	T	4: 90,112,661 (GRCm39)	T267I	probably benign	Het
Zfp773	A	T	7: 7,135,874 (GRCm39)	C241S	probably benign	Het
Zfp934	T	C	13: 62,668,339 (GRCm39)	D8G	probably damaging	Het

Other mutations in Sec24d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Sec24d	APN	3	123,143,658 (GRCm39)	missense	probably benign	0.00
IGL01621:Sec24d	APN	3	123,087,807 (GRCm39)	critical splice acceptor site	probably null
IGL01866:Sec24d	APN	3	123,087,244 (GRCm39)	nonsense	probably null
IGL02064:Sec24d	APN	3	123,137,463 (GRCm39)	splice site	probably benign
IGL02125:Sec24d	APN	3	123,152,607 (GRCm39)	missense	probably damaging	1.00
IGL02173:Sec24d	APN	3	123,147,330 (GRCm39)	missense	probably damaging	1.00
IGL03239:Sec24d	APN	3	123,130,138 (GRCm39)	missense	probably benign	0.00
Scanty	UTSW	3	123,148,596 (GRCm39)	missense	probably damaging	1.00
3-1:Sec24d	UTSW	3	123,147,279 (GRCm39)	missense	possibly damaging	0.94
PIT4531001:Sec24d	UTSW	3	123,136,827 (GRCm39)	missense	probably damaging	1.00
R0008:Sec24d	UTSW	3	123,144,525 (GRCm39)	splice site	probably benign
R0838:Sec24d	UTSW	3	123,099,485 (GRCm39)	missense	probably benign	0.08
R1775:Sec24d	UTSW	3	123,130,166 (GRCm39)	missense	probably damaging	1.00
R1895:Sec24d	UTSW	3	123,147,043 (GRCm39)	missense	probably benign	0.04
R1946:Sec24d	UTSW	3	123,147,043 (GRCm39)	missense	probably benign	0.04
R2238:Sec24d	UTSW	3	123,143,543 (GRCm39)	splice site	probably null
R2504:Sec24d	UTSW	3	123,147,255 (GRCm39)	missense	possibly damaging	0.69
R2846:Sec24d	UTSW	3	123,144,395 (GRCm39)	missense	probably damaging	0.98
R2895:Sec24d	UTSW	3	123,136,800 (GRCm39)	missense	probably damaging	1.00
R3428:Sec24d	UTSW	3	123,137,572 (GRCm39)	splice site	probably benign
R4573:Sec24d	UTSW	3	123,152,519 (GRCm39)	missense	probably damaging	1.00
R4668:Sec24d	UTSW	3	123,149,423 (GRCm39)	missense	probably damaging	0.98
R4706:Sec24d	UTSW	3	123,149,427 (GRCm39)	missense	possibly damaging	0.80
R4896:Sec24d	UTSW	3	123,148,596 (GRCm39)	missense	probably damaging	1.00
R4982:Sec24d	UTSW	3	123,093,255 (GRCm39)	missense	probably benign	0.29
R5030:Sec24d	UTSW	3	123,152,550 (GRCm39)	missense	probably damaging	0.98
R5041:Sec24d	UTSW	3	123,087,880 (GRCm39)	missense	probably damaging	0.96
R5078:Sec24d	UTSW	3	123,084,201 (GRCm39)	missense	probably benign	0.00
R5108:Sec24d	UTSW	3	123,099,434 (GRCm39)	splice site	probably null
R5174:Sec24d	UTSW	3	123,158,575 (GRCm39)	missense	probably damaging	0.99
R5661:Sec24d	UTSW	3	123,136,791 (GRCm39)	missense	possibly damaging	0.95
R5661:Sec24d	UTSW	3	123,136,734 (GRCm39)	missense	probably damaging	1.00
R5775:Sec24d	UTSW	3	123,084,109 (GRCm39)	missense	probably benign	0.00
R5859:Sec24d	UTSW	3	123,072,961 (GRCm39)	unclassified	probably benign
R5944:Sec24d	UTSW	3	123,087,230 (GRCm39)	missense	probably benign	0.01
R6053:Sec24d	UTSW	3	123,072,871 (GRCm39)	nonsense	probably null
R6515:Sec24d	UTSW	3	123,136,719 (GRCm39)	missense	possibly damaging	0.92
R6552:Sec24d	UTSW	3	123,084,201 (GRCm39)	missense	probably benign	0.00
R6557:Sec24d	UTSW	3	123,136,736 (GRCm39)	missense	probably damaging	1.00
R6593:Sec24d	UTSW	3	123,147,061 (GRCm39)	missense	probably damaging	1.00
R6594:Sec24d	UTSW	3	123,087,412 (GRCm39)	missense	probably damaging	1.00
R6842:Sec24d	UTSW	3	123,136,868 (GRCm39)	missense	probably benign	0.00
R7481:Sec24d	UTSW	3	123,144,412 (GRCm39)	missense	probably damaging	1.00
R7554:Sec24d	UTSW	3	123,149,423 (GRCm39)	missense	probably damaging	1.00
R8270:Sec24d	UTSW	3	123,099,535 (GRCm39)	missense	possibly damaging	0.90
R8481:Sec24d	UTSW	3	123,147,073 (GRCm39)	missense	probably damaging	1.00
R8713:Sec24d	UTSW	3	123,137,541 (GRCm39)	missense	probably damaging	1.00
R8872:Sec24d	UTSW	3	123,148,585 (GRCm39)	splice site	probably benign
R8922:Sec24d	UTSW	3	123,144,488 (GRCm39)	missense	probably damaging	1.00
R8974:Sec24d	UTSW	3	123,099,498 (GRCm39)	missense	probably damaging	1.00
R9015:Sec24d	UTSW	3	123,121,287 (GRCm39)	missense	probably benign	0.43
R9050:Sec24d	UTSW	3	123,144,374 (GRCm39)	missense	probably benign	0.00
R9065:Sec24d	UTSW	3	123,149,452 (GRCm39)	missense	probably damaging	1.00
R9128:Sec24d	UTSW	3	123,087,810 (GRCm39)	missense	probably benign
R9447:Sec24d	UTSW	3	123,084,162 (GRCm39)	missense	probably benign	0.00
R9701:Sec24d	UTSW	3	123,063,321 (GRCm39)	missense	probably damaging	1.00
R9758:Sec24d	UTSW	3	123,136,803 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGTTTACAACATATACAAGAGCC -3'
(R):5'- TGCCCTGGAAATGTCTGTCTG -3'

Sequencing Primer
(F):5'- TATACAAGAGCCAAAAAGTTAGTGAG -3'
(R):5'- GGAAATGTCTGTCTGTGAACCAAGTC -3'

Posted On

2019-05-15