Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Casc3'

365474

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

cancer susceptibility candidate 3

Synonyms

Btz, Mln51

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

98804905-98833814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98828923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 567 (M567K)

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: M567K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: M567K

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 damaging
Transcript: ENSMUST00000169695
AA Change: M567K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: M567K

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

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,351,810	I1364V	possibly damaging	Het
Adamts19	T	A	18: 58,988,965	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,424,357	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,730,565	T536S	probably damaging	Het
Capg	T	A	6: 72,562,844	I340N	probably damaging	Het
Chmp1a	T	C	8: 123,208,067	E50G	probably damaging	Het
Cryba1	T	C	11: 77,719,381		probably benign	Het
Dnah8	T	A	17: 30,746,761	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,570,103	S1141R	probably benign	Het
Exd2	T	A	12: 80,480,528	V165D	probably damaging	Het
Fbln1	A	T	15: 85,231,462	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,252,337	K384E	probably damaging	Het
Ggt5	A	G	10: 75,604,128	I188V	probably benign	Het
Gm42742	A	T	7: 127,016,846	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,351,341	S239N	possibly damaging	Het
Klf11	C	T	12: 24,655,627	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,467,100		probably benign	Het
Magea8	A	T	X: 154,986,682	C144S	probably damaging	Het
Med4	A	G	14: 73,517,921	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,569,477	F153L	probably damaging	Het
Nav3	C	A	10: 109,736,953	R1615L	probably damaging	Het
Nisch	A	G	14: 31,180,812		probably benign	Het
Nr1i3	A	T	1: 171,214,395	Y16F	probably benign	Het
Olfr1134	C	A	2: 87,656,714	C69F	probably damaging	Het
Olfr828	A	G	9: 18,815,728	C189R	probably damaging	Het
Olfr860	G	A	9: 19,846,254	R122*	probably null	Het
Olfr954	A	G	9: 39,461,781	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,507,483	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,259,175	P175L	probably damaging	Het
Psme4	T	A	11: 30,791,095	Y90*	probably null	Het
Rbm20	C	A	19: 53,813,702	L214I	probably benign	Het
Rhox2f	T	C	X: 37,571,681	V24A	probably benign	Het
Scnm1	T	C	3: 95,133,037	K96E	probably benign	Het
Sec16a	A	C	2: 26,419,723	D2090E	probably benign	Het
Smg6	T	C	11: 74,930,750		probably null	Het
Snx2	T	C	18: 53,194,558	S119P	probably benign	Het
Stam	A	G	2: 14,115,968		probably benign	Het
Sult2b1	T	A	7: 45,735,274	E126V	probably benign	Het
Tor1aip1	T	C	1: 156,035,844	E131G	probably damaging	Het
Ttn	C	T	2: 76,788,696	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,407,820	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,552,938	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,741,782	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,542,421	L18Q	possibly damaging	Het
Zfp747	T	C	7: 127,374,494	E168G	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
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
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

Posted On

2015-12-18