Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Casc3'

365474

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

exon junction complex subunit

Synonyms

Mln51, Btz

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

98700634-98724633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98719749 bp (GRCm39)

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: 94,242,636 (GRCm39)	I1364V	possibly damaging	Het
Adamts19	T	A	18: 59,122,037 (GRCm39)	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,342,594 (GRCm39)	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,658,303 (GRCm39)	T536S	probably damaging	Het
Capg	T	A	6: 72,539,827 (GRCm39)	I340N	probably damaging	Het
Chmp1a	T	C	8: 123,934,806 (GRCm39)	E50G	probably damaging	Het
Cryba1	T	C	11: 77,610,207 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,965,735 (GRCm39)	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,292,060 (GRCm39)	S1141R	probably benign	Het
Exd2	T	A	12: 80,527,302 (GRCm39)	V165D	probably damaging	Het
Fbln1	A	T	15: 85,115,663 (GRCm39)	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,143,163 (GRCm39)	K384E	probably damaging	Het
Ggt5	A	G	10: 75,439,962 (GRCm39)	I188V	probably benign	Het
Gm42742	A	T	7: 126,616,018 (GRCm39)	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542 (GRCm39)	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,499,188 (GRCm39)	S239N	possibly damaging	Het
Klf11	C	T	12: 24,705,626 (GRCm39)	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,672,098 (GRCm39)		probably benign	Het
Magea8	A	T	X: 153,769,678 (GRCm39)	C144S	probably damaging	Het
Med4	A	G	14: 73,755,361 (GRCm39)	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,555,232 (GRCm39)	F153L	probably damaging	Het
Nav3	C	A	10: 109,572,814 (GRCm39)	R1615L	probably damaging	Het
Nisch	A	G	14: 30,902,769 (GRCm39)		probably benign	Het
Nr1i3	A	T	1: 171,041,964 (GRCm39)	Y16F	probably benign	Het
Or5w1	C	A	2: 87,487,058 (GRCm39)	C69F	probably damaging	Het
Or7e169	G	A	9: 19,757,550 (GRCm39)	R122*	probably null	Het
Or7g16	A	G	9: 18,727,024 (GRCm39)	C189R	probably damaging	Het
Or8g34	A	G	9: 39,373,077 (GRCm39)	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,383,479 (GRCm39)	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,143,378 (GRCm39)	P175L	probably damaging	Het
Psme4	T	A	11: 30,741,095 (GRCm39)	Y90*	probably null	Het
Rbm20	C	A	19: 53,802,133 (GRCm39)	L214I	probably benign	Het
Rhox2f	T	C	X: 36,753,334 (GRCm39)	V24A	probably benign	Het
Scnm1	T	C	3: 95,040,348 (GRCm39)	K96E	probably benign	Het
Sec16a	A	C	2: 26,309,735 (GRCm39)	D2090E	probably benign	Het
Smg6	T	C	11: 74,821,576 (GRCm39)		probably null	Het
Snx2	T	C	18: 53,327,630 (GRCm39)	S119P	probably benign	Het
Stam	A	G	2: 14,120,779 (GRCm39)		probably benign	Het
Sult2b1	T	A	7: 45,384,698 (GRCm39)	E126V	probably benign	Het
Tor1aip1	T	C	1: 155,911,590 (GRCm39)	E131G	probably damaging	Het
Ttn	C	T	2: 76,619,040 (GRCm39)	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,135,131 (GRCm39)	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,529,922 (GRCm39)	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,718,741 (GRCm39)	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,675,474 (GRCm39)	L18Q	possibly damaging	Het
Zfp747	T	C	7: 126,973,666 (GRCm39)	E168G	probably benign	Het

Other mutations in Casc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Casc3	APN	11	98,714,028 (GRCm39)	missense	possibly damaging	0.62
IGL01566:Casc3	APN	11	98,714,227 (GRCm39)	critical splice donor site	probably null
IGL01901:Casc3	APN	11	98,713,947 (GRCm39)	missense	probably damaging	1.00
IGL02345:Casc3	APN	11	98,718,390 (GRCm39)	splice site	probably benign
IGL02875:Casc3	APN	11	98,712,378 (GRCm39)	missense	probably damaging	1.00
R0147:Casc3	UTSW	11	98,713,325 (GRCm39)	missense	possibly damaging	0.89
R0195:Casc3	UTSW	11	98,712,319 (GRCm39)	missense	probably damaging	0.99
R0763:Casc3	UTSW	11	98,722,144 (GRCm39)	missense	probably damaging	1.00
R1581:Casc3	UTSW	11	98,713,644 (GRCm39)	missense	possibly damaging	0.66
R2021:Casc3	UTSW	11	98,712,332 (GRCm39)	missense	probably benign	0.01
R4380:Casc3	UTSW	11	98,713,857 (GRCm39)	missense	possibly damaging	0.67
R4612:Casc3	UTSW	11	98,713,784 (GRCm39)	missense	probably benign	0.13
R4988:Casc3	UTSW	11	98,712,700 (GRCm39)	splice site	probably null
R5079:Casc3	UTSW	11	98,701,252 (GRCm39)	intron	probably benign
R5442:Casc3	UTSW	11	98,712,297 (GRCm39)	missense	probably damaging	0.99
R5511:Casc3	UTSW	11	98,701,740 (GRCm39)	nonsense	probably null
R5873:Casc3	UTSW	11	98,712,270 (GRCm39)	missense	unknown
R6041:Casc3	UTSW	11	98,719,385 (GRCm39)	missense	probably damaging	1.00
R6685:Casc3	UTSW	11	98,713,356 (GRCm39)	missense	probably damaging	0.99
R7030:Casc3	UTSW	11	98,713,359 (GRCm39)	missense	possibly damaging	0.74
R7107:Casc3	UTSW	11	98,718,413 (GRCm39)	missense	possibly damaging	0.93
R7594:Casc3	UTSW	11	98,712,311 (GRCm39)	missense	probably benign	0.04
R7659:Casc3	UTSW	11	98,700,699 (GRCm39)	missense	unknown
R7660:Casc3	UTSW	11	98,700,699 (GRCm39)	missense	unknown
R8443:Casc3	UTSW	11	98,713,607 (GRCm39)	missense	probably damaging	1.00
R8444:Casc3	UTSW	11	98,713,607 (GRCm39)	missense	probably damaging	1.00
R8491:Casc3	UTSW	11	98,713,977 (GRCm39)	missense	probably benign	0.27
R8516:Casc3	UTSW	11	98,713,607 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18