Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Sec24d'

80408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec24d

Ensembl Gene

ENSMUSG00000039234

Gene Name

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

Synonyms

2310020L09Rik, LOC383951

Accession Numbers

Genbank: NM_027135; MGI: 1916858

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

123267455-123365641 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123350009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 603 (N603S)

Ref Sequence

ENSEMBL: ENSMUSP00000035823 (fasta)

Gene Model

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

AlphaFold

Q6NXL1

Predicted Effect

probably benign
Transcript: ENSMUST00000047923
AA Change: N603S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: N603S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200309

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. 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,140,133	M457K	probably benign	Het
Acap2	A	G	16: 31,101,819		probably benign	Het
Actr6	A	T	10: 89,725,165		probably benign	Het
Adamts3	A	T	5: 89,703,057	M541K	possibly damaging	Het
Adgre4	T	C	17: 55,799,785		probably benign	Het
Anxa6	T	C	11: 54,992,363	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,858,280	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,570,338	D261G	probably damaging	Het
Bche	T	C	3: 73,702,009	H28R	probably benign	Het
C2cd3	T	C	7: 100,454,858	V2026A	probably benign	Het
Cacna1d	C	T	14: 30,051,638	V1697I	probably benign	Het
Celsr2	T	C	3: 108,393,763	H2738R	probably benign	Het
Celsr3	A	G	9: 108,841,190		probably null	Het
Cep152	A	T	2: 125,563,652	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,612,940	I248F	probably benign	Het
Clcnka	C	A	4: 141,389,332	R536L	probably benign	Het
Dao	T	A	5: 114,023,820		probably benign	Het
Dnajc10	T	C	2: 80,345,023	S585P	possibly damaging	Het
Dysf	C	T	6: 84,149,759	Q1333*	probably null	Het
Eps8l2	T	A	7: 141,357,663	S397T	probably benign	Het
Fap	A	G	2: 62,504,502		probably benign	Het
Fbf1	T	C	11: 116,145,996	T971A	probably benign	Het
Fbxl17	C	T	17: 63,385,052	V22M	probably damaging	Het
Fundc2	T	C	X: 75,390,865		probably benign	Het
Heyl	C	A	4: 123,240,174	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,872	K30E	probably benign	Het
Igsf10	T	C	3: 59,319,650	I2201V	probably benign	Het
Il34	T	C	8: 110,742,713	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,389,044	T116A	probably damaging	Het
Lpl	T	C	8: 68,887,433		probably benign	Het
Mcm6	A	G	1: 128,345,875	L406P	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nadk2	T	C	15: 9,102,984	S308P	probably damaging	Het
Nae1	G	T	8: 104,523,165	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,407,587	P1266S	probably damaging	Het
Neb	A	G	2: 52,157,377	Y6485H	probably damaging	Het
Nin	G	A	12: 70,045,414	A707V	probably benign	Het
Nmur1	T	C	1: 86,387,391	T218A	probably benign	Het
Npr3	T	C	15: 11,858,632	N135D	probably damaging	Het
Nup107	A	T	10: 117,785,021	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,141,443	S53T	probably benign	Het
Plxdc2	T	A	2: 16,650,139	V232D	probably damaging	Het
Pou2f2	T	C	7: 25,092,952	N493D	possibly damaging	Het
Rtel1	T	C	2: 181,354,401	I750T	probably benign	Het
Sbk1	A	G	7: 126,292,012		probably null	Het
Slc38a10	T	A	11: 120,106,460	E736V	probably damaging	Het
Smc6	A	G	12: 11,291,658	Y559C	probably benign	Het
Sprr4	A	T	3: 92,500,384	V37E	unknown	Het
Sptbn2	A	G	19: 4,734,125	T632A	probably benign	Het
Trim31	A	G	17: 36,898,411	M20V	probably benign	Het
Trim65	C	A	11: 116,126,509	V376L	probably damaging	Het
Ttn	T	C	2: 76,712,076	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,702,051	T503A	possibly damaging	Het
Vtn	A	T	11: 78,499,374	I9L	probably benign	Het
Zfp398	A	G	6: 47,865,934	M175V	probably benign	Het

Other mutations in Sec24d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Sec24d	APN	3	123294158	critical splice acceptor site	probably null
IGL01866:Sec24d	APN	3	123293595	nonsense	probably null
IGL02064:Sec24d	APN	3	123343814	splice site	probably benign
IGL02125:Sec24d	APN	3	123358958	missense	probably damaging	1.00
IGL02173:Sec24d	APN	3	123353681	missense	probably damaging	1.00
IGL03239:Sec24d	APN	3	123336489	missense	probably benign	0.00
Scanty	UTSW	3	123354947	missense	probably damaging	1.00
3-1:Sec24d	UTSW	3	123353630	missense	possibly damaging	0.94
PIT4531001:Sec24d	UTSW	3	123343178	missense	probably damaging	1.00
R0008:Sec24d	UTSW	3	123350876	splice site	probably benign
R0838:Sec24d	UTSW	3	123305836	missense	probably benign	0.08
R1775:Sec24d	UTSW	3	123336517	missense	probably damaging	1.00
R1895:Sec24d	UTSW	3	123353394	missense	probably benign	0.04
R1946:Sec24d	UTSW	3	123353394	missense	probably benign	0.04
R2238:Sec24d	UTSW	3	123349894	splice site	probably null
R2504:Sec24d	UTSW	3	123353606	missense	possibly damaging	0.69
R2846:Sec24d	UTSW	3	123350746	missense	probably damaging	0.98
R2895:Sec24d	UTSW	3	123343151	missense	probably damaging	1.00
R3428:Sec24d	UTSW	3	123343923	splice site	probably benign
R4573:Sec24d	UTSW	3	123358870	missense	probably damaging	1.00
R4668:Sec24d	UTSW	3	123355774	missense	probably damaging	0.98
R4706:Sec24d	UTSW	3	123355778	missense	possibly damaging	0.80
R4896:Sec24d	UTSW	3	123354947	missense	probably damaging	1.00
R4982:Sec24d	UTSW	3	123299606	missense	probably benign	0.29
R5030:Sec24d	UTSW	3	123358901	missense	probably damaging	0.98
R5041:Sec24d	UTSW	3	123294231	missense	probably damaging	0.96
R5078:Sec24d	UTSW	3	123290552	missense	probably benign	0.00
R5108:Sec24d	UTSW	3	123305785	splice site	probably null
R5174:Sec24d	UTSW	3	123364926	missense	probably damaging	0.99
R5661:Sec24d	UTSW	3	123343085	missense	probably damaging	1.00
R5661:Sec24d	UTSW	3	123343142	missense	possibly damaging	0.95
R5775:Sec24d	UTSW	3	123290460	missense	probably benign	0.00
R5859:Sec24d	UTSW	3	123279312	unclassified	probably benign
R5944:Sec24d	UTSW	3	123293581	missense	probably benign	0.01
R6053:Sec24d	UTSW	3	123279222	nonsense	probably null
R6515:Sec24d	UTSW	3	123343070	missense	possibly damaging	0.92
R6552:Sec24d	UTSW	3	123290552	missense	probably benign	0.00
R6557:Sec24d	UTSW	3	123343087	missense	probably damaging	1.00
R6593:Sec24d	UTSW	3	123353412	missense	probably damaging	1.00
R6594:Sec24d	UTSW	3	123293763	missense	probably damaging	1.00
R6842:Sec24d	UTSW	3	123343219	missense	probably benign	0.00
R7072:Sec24d	UTSW	3	123330351	missense	probably damaging	1.00
R7481:Sec24d	UTSW	3	123350763	missense	probably damaging	1.00
R7554:Sec24d	UTSW	3	123355774	missense	probably damaging	1.00
R8270:Sec24d	UTSW	3	123305886	missense	possibly damaging	0.90
R8481:Sec24d	UTSW	3	123353424	missense	probably damaging	1.00
R8713:Sec24d	UTSW	3	123343892	missense	probably damaging	1.00
R8872:Sec24d	UTSW	3	123354936	splice site	probably benign
R8922:Sec24d	UTSW	3	123350839	missense	probably damaging	1.00
R8974:Sec24d	UTSW	3	123305849	missense	probably damaging	1.00
R9015:Sec24d	UTSW	3	123327638	missense	probably benign	0.43
R9050:Sec24d	UTSW	3	123350725	missense	probably benign	0.00
R9065:Sec24d	UTSW	3	123355803	missense	probably damaging	1.00
R9128:Sec24d	UTSW	3	123294161	missense	probably benign
R9447:Sec24d	UTSW	3	123290513	missense	probably benign	0.00
R9701:Sec24d	UTSW	3	123269672	missense	probably damaging	1.00
R9758:Sec24d	UTSW	3	123343154	missense	probably damaging	1.00

Posted On

2013-11-05