Mutagenetix > Incidental Mutation

Incidental Mutation 'R5079:Casc3'

387039

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

cancer susceptibility candidate 3

Synonyms

Btz, Mln51

MMRRC Submission

042668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98804905-98833814 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 98810426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017384] [ENSMUST00000037915] [ENSMUST00000037930] [ENSMUST00000107487] [ENSMUST00000169695]

AlphaFold

Q8K3W3

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000037915

SMART Domains

Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
low complexity region	55	91	N/A	INTRINSIC
low complexity region	153	196	N/A	INTRINSIC
Pfam:MSL1_dimer	216	252	5e-22	PFAM
low complexity region	289	300	N/A	INTRINSIC
low complexity region	441	453	N/A	INTRINSIC
PEHE	475	593	1.8e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000037930

SMART Domains

Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
coiled coil region	18	56	N/A	INTRINSIC
low complexity region	59	70	N/A	INTRINSIC
low complexity region	211	223	N/A	INTRINSIC
PEHE	229	347	2.73e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107487

SMART Domains

Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
low complexity region	55	91	N/A	INTRINSIC
low complexity region	153	196	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
SCOP:d1fxkc_	235	307	6e-3	SMART
low complexity region	441	453	N/A	INTRINSIC
PEHE	459	577	2.73e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153181

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

90% (63/70)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,737,330	S221G	probably benign	Het
Abca9	A	T	11: 110,145,569	F571L	possibly damaging	Het
Agbl4	T	A	4: 111,566,629	M284K	possibly damaging	Het
Ankrd16	A	G	2: 11,778,899	D104G	probably damaging	Het
Bpifc	T	C	10: 85,981,304	D230G	probably damaging	Het
Catsperd	T	C	17: 56,658,153		probably null	Het
Cpxm2	C	T	7: 132,154,285		probably null	Het
Crisp1	A	T	17: 40,308,976		probably null	Het
Crybg2	T	C	4: 134,074,253	I908T	possibly damaging	Het
Csn3	T	C	5: 87,929,767	V44A	possibly damaging	Het
Dopey1	T	A	9: 86,487,421	D102E	probably damaging	Het
Etfdh	T	C	3: 79,618,398	Y111C	probably damaging	Het
Fam69c	A	T	18: 84,730,577	H100L	probably benign	Het
Fat3	T	C	9: 15,999,127	S1860G	probably benign	Het
Gba2	G	T	4: 43,568,640		probably benign	Het
Ggta1	A	G	2: 35,422,237	I43T	possibly damaging	Het
Glb1l2	T	C	9: 26,771,109	I149V	probably benign	Het
Gm5084	T	A	13: 60,212,825		noncoding transcript	Het
Gm5591	G	T	7: 38,522,136	P170T	probably benign	Het
Gm6614	A	C	6: 141,972,347	I601R	probably benign	Het
Gucy2d	A	T	7: 98,458,268		probably null	Het
Itpr3	T	C	17: 27,098,423	F851L	probably damaging	Het
Kat2b	T	A	17: 53,663,638	I684N	probably damaging	Het
Klra17	C	A	6: 129,872,196	K138N	possibly damaging	Het
Lrrc4	T	A	6: 28,830,770	H282L	possibly damaging	Het
Lyst	T	C	13: 13,757,353	I3522T	probably benign	Het
Man2c1	A	G	9: 57,136,716	T312A	probably damaging	Het
Mapkbp1	A	G	2: 120,013,733	R313G	probably damaging	Het
N4bp2	G	A	5: 65,811,977	G1361R	probably damaging	Het
Nbas	A	T	12: 13,374,711	I984F	probably damaging	Het
Ncor1	T	A	11: 62,345,237	Q579L	possibly damaging	Het
Nme9	A	G	9: 99,459,702	Y35C	probably damaging	Het
Olfr1136	C	A	2: 87,693,208	V225F	probably damaging	Het
Ormdl1	T	C	1: 53,308,934	V145A	probably damaging	Het
Paxbp1	C	A	16: 91,025,146		probably null	Het
Pcnx	C	A	12: 81,979,089	S1530*	probably null	Het
Pogk	A	G	1: 166,399,164	W473R	probably damaging	Het
Pot1b	A	T	17: 55,669,801	S374T	probably benign	Het
Rcn1	A	G	2: 105,399,057	F50S	probably damaging	Het
Rcvrn	T	A	11: 67,702,941	I186N	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Ror1	T	A	4: 100,441,422	I664N	probably damaging	Het
Sall2	G	T	14: 52,314,754	A326E	probably damaging	Het
Sh2d6	G	A	6: 72,519,850	P66S	probably benign	Het
Slc6a20b	T	A	9: 123,598,498	S449C	probably damaging	Het
Slc9a3	A	T	13: 74,164,287	N668Y	probably damaging	Het
Sorcs2	T	G	5: 36,043,452	K584T	probably damaging	Het
Stam	T	C	2: 14,074,539	M8T	probably benign	Het
Styk1	G	A	6: 131,301,713	P333S	probably damaging	Het
Sycp1	A	G	3: 102,878,800	C589R	possibly damaging	Het
Tas2r123	A	G	6: 132,847,718	I193V	probably benign	Het
Tnks1bp1	C	A	2: 85,062,626	Q304K	probably damaging	Het
Traf3ip2	T	C	10: 39,626,477	L207P	probably damaging	Het
Usp49	A	G	17: 47,673,221	S384G	possibly damaging	Het
Vezt	T	C	10: 94,020,624		probably null	Het
Vmn1r87	C	A	7: 13,132,326	M11I	probably benign	Het
Vmn2r39	A	G	7: 9,023,490	V504A	probably benign	Het
Wapl	G	A	14: 34,724,757	A607T	probably damaging	Het
Zfp638	A	G	6: 83,929,456	N201S	probably benign	Het

Other mutations in Casc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Casc3	APN	11	98,823,202 (GRCm38)	missense	possibly damaging	0.62
IGL01566:Casc3	APN	11	98,823,401 (GRCm38)	critical splice donor site	probably null
IGL01901:Casc3	APN	11	98,823,121 (GRCm38)	missense	probably damaging	1.00
IGL02345:Casc3	APN	11	98,827,564 (GRCm38)	splice site	probably benign
IGL02875:Casc3	APN	11	98,821,552 (GRCm38)	missense	probably damaging	1.00
IGL02964:Casc3	APN	11	98,828,923 (GRCm38)	missense	probably damaging	0.96
R0147:Casc3	UTSW	11	98,822,499 (GRCm38)	missense	possibly damaging	0.89
R0195:Casc3	UTSW	11	98,821,493 (GRCm38)	missense	probably damaging	0.99
R0763:Casc3	UTSW	11	98,831,318 (GRCm38)	missense	probably damaging	1.00
R1581:Casc3	UTSW	11	98,822,818 (GRCm38)	missense	possibly damaging	0.66
R2021:Casc3	UTSW	11	98,821,506 (GRCm38)	missense	probably benign	0.01
R4380:Casc3	UTSW	11	98,823,031 (GRCm38)	missense	possibly damaging	0.67
R4612:Casc3	UTSW	11	98,822,958 (GRCm38)	missense	probably benign	0.13
R4988:Casc3	UTSW	11	98,821,874 (GRCm38)	splice site	probably null
R5442:Casc3	UTSW	11	98,821,471 (GRCm38)	missense	probably damaging	0.99
R5511:Casc3	UTSW	11	98,810,914 (GRCm38)	nonsense	probably null
R5873:Casc3	UTSW	11	98,821,444 (GRCm38)	missense	unknown
R6041:Casc3	UTSW	11	98,828,559 (GRCm38)	missense	probably damaging	1.00
R6685:Casc3	UTSW	11	98,822,530 (GRCm38)	missense	probably damaging	0.99
R7030:Casc3	UTSW	11	98,822,533 (GRCm38)	missense	possibly damaging	0.74
R7107:Casc3	UTSW	11	98,827,587 (GRCm38)	missense	possibly damaging	0.93
R7594:Casc3	UTSW	11	98,821,485 (GRCm38)	missense	probably benign	0.04
R7659:Casc3	UTSW	11	98,809,873 (GRCm38)	missense	unknown
R7660:Casc3	UTSW	11	98,809,873 (GRCm38)	missense	unknown
R8443:Casc3	UTSW	11	98,822,781 (GRCm38)	missense	probably damaging	1.00
R8444:Casc3	UTSW	11	98,822,781 (GRCm38)	missense	probably damaging	1.00
R8491:Casc3	UTSW	11	98,823,151 (GRCm38)	missense	probably benign	0.27
R8516:Casc3	UTSW	11	98,822,781 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGTGCAATGTTTACACGG -3'
(R):5'- ACAGTGCACTCAATCTGTCACC -3'

Sequencing Primer
(F):5'- CGTGCAATGTTTACACGGAAACTG -3'
(R):5'- GCATGCTCATCATCACCATG -3'

Posted On

2016-06-06