Mutagenetix > Incidental Mutation

Incidental Mutation 'R0195:Casc3'

23381

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

cancer susceptibility candidate 3

Synonyms

Btz, Mln51

MMRRC Submission

038454-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R0195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98804905-98833814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98821493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 119 (D119E)

Ref Sequence

ENSEMBL: ENSMUSP00000130926 (fasta)

Gene Model

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

AlphaFold

Q8K3W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000017384
AA Change: D119E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: D119E

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 damaging
Transcript: ENSMUST00000169695
AA Change: D119E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: D119E

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

0.0608

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,512,974	R362P	possibly damaging	Het
Adam24	T	A	8: 40,681,766	W758R	probably benign	Het
Adam26b	G	T	8: 43,520,270	T565K	probably damaging	Het
Adam7	T	G	14: 68,527,627		probably benign	Het
Adamts19	A	G	18: 58,969,870		probably benign	Het
Add1	A	G	5: 34,610,646		probably benign	Het
Ago1	A	G	4: 126,463,691	C64R	probably benign	Het
Ankrd12	C	T	17: 66,049,948		probably null	Het
Arhgef33	A	G	17: 80,381,434	K820E	probably damaging	Het
Arl9	T	C	5: 77,006,494	V8A	probably damaging	Het
Aspm	T	C	1: 139,479,135	L1920P	probably damaging	Het
Atad2	A	G	15: 58,099,954		probably benign	Het
Atp2b2	A	T	6: 113,793,874	V358E	probably benign	Het
C3ar1	A	C	6: 122,851,155	C34W	possibly damaging	Het
C6	G	A	15: 4,763,471	V353M	probably benign	Het
Capn7	T	C	14: 31,365,581	I593T	probably damaging	Het
Ccna1	T	A	3: 55,054,364	E45V	probably damaging	Het
Cdc37	A	G	9: 21,142,280	V180A	probably benign	Het
Cdh23	A	G	10: 60,317,059	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cngb3	A	T	4: 19,280,975	M15L	probably benign	Het
Crygn	A	G	5: 24,756,038	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,940,088	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,364,321		noncoding transcript	Het
Ddx24	C	T	12: 103,418,961		probably null	Het
Dnah3	A	T	7: 120,077,775		probably null	Het
Dnah9	C	T	11: 65,895,905	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,276,161	T342S	probably benign	Het
Evx2	G	T	2: 74,659,044	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,770,798	L40Q	probably damaging	Het
Git1	T	A	11: 77,501,073	D240E	probably benign	Het
Glp2r	T	A	11: 67,709,708	K438N	probably damaging	Het
Gm4778	A	G	3: 94,265,922	Y79C	possibly damaging	Het
Hivep1	T	A	13: 42,156,153	I623N	probably benign	Het
Il17re	A	G	6: 113,466,137	E312G	probably damaging	Het
Itgb7	G	A	15: 102,222,183		probably benign	Het
Itpr3	A	G	17: 27,114,114	Y1900C	probably damaging	Het
Krt2	G	A	15: 101,813,191	Q472*	probably null	Het
Krtap5-1	A	C	7: 142,296,697	C125G	unknown	Het
Macf1	A	G	4: 123,434,916	S2554P	probably damaging	Het
March10	C	T	11: 105,385,525	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,546,353		probably benign	Het
Myo16	A	T	8: 10,315,538		probably benign	Het
Nrcam	A	T	12: 44,584,845	E1060D	probably benign	Het
Nsd3	T	A	8: 25,680,693	C731S	probably damaging	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Nxnl2	G	T	13: 51,171,447	R42L	probably damaging	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Orc1	C	T	4: 108,614,308	R786*	probably null	Het
P2ry6	A	T	7: 100,938,697	W152R	probably damaging	Het
Pex5l	T	C	3: 32,992,953	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,207,731	I269V	probably benign	Het
Phgdh	T	G	3: 98,316,550		probably benign	Het
Pzp	A	T	6: 128,487,478	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,548,106		probably benign	Het
Rffl	A	G	11: 82,810,163	L244P	probably damaging	Het
Serpina11	T	C	12: 103,985,872	Y213C	probably damaging	Het
Srsf11	A	G	3: 158,036,535		probably benign	Het
Sspo	T	A	6: 48,486,636	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,293,059	D74V	probably damaging	Het
Tmprss15	T	A	16: 79,034,334	T393S	probably benign	Het
Tnfaip3	A	G	10: 19,005,713	L275P	probably damaging	Het
Trim30c	A	G	7: 104,382,429	V393A	probably benign	Het
Tssk2	T	A	16: 17,899,575	S281T	probably benign	Het
Tubb4a	A	G	17: 57,081,499	S176P	probably damaging	Het
Unc45b	T	A	11: 82,937,828	M785K	probably damaging	Het
Vldlr	A	T	19: 27,238,386	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,835,585	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,574,055	L784Q	probably benign	Het
Vps13b	A	G	15: 35,471,899	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,847	M373T	probably damaging	Het
Zmym1	A	G	4: 127,047,911	F895L	possibly damaging	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
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
R4988:Casc3	UTSW	11	98821874	splice site	probably null
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

PCR Primer
(F):5'- AGCCCTGCCTTTGAAATGCTTGT -3'
(R):5'- CTTACTCTTCCACATCCAGGGACTTGA -3'

Sequencing Primer
(F):5'- agccaacaagactcaagactc -3'
(R):5'- CATCCAGGGACTTGAGAGGC -3'

Posted On

2013-04-16