Mutagenetix > Incidental Mutation

Incidental Mutation 'R4988:Casc3'

512187

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

cancer susceptibility candidate 3

Synonyms

Btz, Mln51

MMRRC Submission

042582-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R4988 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

98804905-98833814 bp(+) (GRCm38)

Type of Mutation

splice site (63 bp from exon)

DNA Base Change (assembly)

T to G at 98821874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017384] [ENSMUST00000169695]

AlphaFold

Q8K3W3

Predicted Effect

probably null
Transcript: ENSMUST00000017384

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676

Domain	Start	End	E-Value	Type
low complexity region	18	62	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	89	109	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
Btz	138	246	1.02e-57	SMART
low complexity region	524	533	N/A	INTRINSIC
low complexity region	586	614	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	669	684	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147065

Predicted Effect

probably null
Transcript: ENSMUST00000169695

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676

Domain	Start	End	E-Value	Type
low complexity region	18	62	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	89	109	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
Btz	138	246	1.02e-57	SMART
low complexity region	524	533	N/A	INTRINSIC
low complexity region	586	614	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	669	684	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygosity for a null or hypomorphic allele causes embryonic and postnatal lethality, respectively. Compound heterozygous embryos are smaller and exhibit proportionately reduced brain size with fewer neurons and progenitors, but no apoptosis, largely due to developmental delay. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,742,710	G223E	probably damaging	Het
Abcb11	T	C	2: 69,323,892	N110S	probably benign	Het
Acaca	T	A	11: 84,263,295	H947Q	probably damaging	Het
Akap13	T	C	7: 75,730,528	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,151,234		noncoding transcript	Het
Arhgef4	A	T	1: 34,723,454	H597L	unknown	Het
Asgr2	A	G	11: 70,097,839	I119M	probably benign	Het
Ccdc7b	T	A	8: 129,145,532	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,526,124	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,100,708	E476G	probably damaging	Het
Clec3a	T	A	8: 114,418,087	M1K	probably null	Het
Col9a1	T	C	1: 24,185,192	S152P	unknown	Het
Cpd	A	G	11: 76,814,830	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854	L95*	probably null	Het
Dhx57	T	C	17: 80,251,398	D1044G	probably damaging	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Efcab5	A	G	11: 77,137,252	S418P	probably damaging	Het
Elp5	T	C	11: 69,979,842	D59G	probably benign	Het
Fam210a	G	A	18: 68,276,147	R31C	probably benign	Het
Farp1	A	G	14: 121,275,607	T792A	probably damaging	Het
Fmc1	A	T	6: 38,534,982	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368	L72M	probably benign	Het
Gm1758	A	T	16: 14,502,203		noncoding transcript	Het
Gm4553	G	A	7: 142,164,992		probably benign	Het
Gm5678	A	G	16: 93,629,996	T162A	probably benign	Het
Gpr156	A	G	16: 37,948,215	T33A	possibly damaging	Het
H2-Ke6	A	G	17: 34,027,288	F137S	probably damaging	Het
Hhat	A	T	1: 192,657,294		probably benign	Het
Hint2	T	C	4: 43,654,953	I59V	possibly damaging	Het
Hps4	C	T	5: 112,378,153		probably benign	Het
Klrc2	A	T	6: 129,656,463	C192S	probably benign	Het
Map1a	C	T	2: 121,303,050	T1211I	probably benign	Het
Mtus1	T	C	8: 41,084,541	N46S	probably benign	Het
Myo18a	T	C	11: 77,845,521		probably null	Het
Nbas	T	C	12: 13,408,265	S1258P	probably benign	Het
Ndst1	C	T	18: 60,702,933	G426D	probably damaging	Het
Nepro	A	G	16: 44,734,542	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,472,343	T322I	possibly damaging	Het
Olfr165	A	T	16: 19,407,110	M302K	probably benign	Het
Olfr347	T	C	2: 36,734,984	I221T	possibly damaging	Het
Olfr798	T	C	10: 129,626,061		probably null	Het
Olfr982	G	A	9: 40,074,665	M123I	probably damaging	Het
Pcdhb15	G	A	18: 37,475,802	A696T	probably damaging	Het
Polm	C	A	11: 5,837,618	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582	R27*	probably null	Het
Proser1	T	C	3: 53,479,625	I845T	probably damaging	Het
Rassf8	A	G	6: 145,817,144	N406D	possibly damaging	Het
Skint10	A	T	4: 112,728,872	C182*	probably null	Het
Slc6a19	C	T	13: 73,685,840	W366*	probably null	Het
St7	T	C	6: 17,934,226	F470L	probably damaging	Het
St8sia4	T	A	1: 95,591,797	Y322F	possibly damaging	Het
Trav8-2	A	T	14: 53,738,357		probably benign	Het
Vwa8	A	T	14: 79,198,283	H1811L	probably benign	Het
Zfp14	G	A	7: 30,038,057	T501I	probably benign	Het

Other mutations in Casc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Casc3	APN	11	98823202	missense	possibly damaging	0.62
IGL01566:Casc3	APN	11	98823401	critical splice donor site	probably null
IGL01901:Casc3	APN	11	98823121	missense	probably damaging	1.00
IGL02345:Casc3	APN	11	98827564	splice site	probably benign
IGL02875:Casc3	APN	11	98821552	missense	probably damaging	1.00
IGL02964:Casc3	APN	11	98828923	missense	probably damaging	0.96
R0147:Casc3	UTSW	11	98822499	missense	possibly damaging	0.89
R0195:Casc3	UTSW	11	98821493	missense	probably damaging	0.99
R0763:Casc3	UTSW	11	98831318	missense	probably damaging	1.00
R1581:Casc3	UTSW	11	98822818	missense	possibly damaging	0.66
R2021:Casc3	UTSW	11	98821506	missense	probably benign	0.01
R4380:Casc3	UTSW	11	98823031	missense	possibly damaging	0.67
R4612:Casc3	UTSW	11	98822958	missense	probably benign	0.13
R5079:Casc3	UTSW	11	98810426	intron	probably benign
R5442:Casc3	UTSW	11	98821471	missense	probably damaging	0.99
R5511:Casc3	UTSW	11	98810914	nonsense	probably null
R5873:Casc3	UTSW	11	98821444	missense	unknown
R6041:Casc3	UTSW	11	98828559	missense	probably damaging	1.00
R6685:Casc3	UTSW	11	98822530	missense	probably damaging	0.99
R7030:Casc3	UTSW	11	98822533	missense	possibly damaging	0.74
R7107:Casc3	UTSW	11	98827587	missense	possibly damaging	0.93
R7594:Casc3	UTSW	11	98821485	missense	probably benign	0.04
R7659:Casc3	UTSW	11	98809873	missense	unknown
R7660:Casc3	UTSW	11	98809873	missense	unknown
R8443:Casc3	UTSW	11	98822781	missense	probably damaging	1.00
R8444:Casc3	UTSW	11	98822781	missense	probably damaging	1.00
R8491:Casc3	UTSW	11	98823151	missense	probably benign	0.27
R8516:Casc3	UTSW	11	98822781	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-04-10