Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Casc3'

431244

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

exon junction complex subunit

Synonyms

Mln51, Btz

MMRRC Submission

043072-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R5511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98700634-98724633 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98701740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 91 (Y91*)

Ref Sequence

ENSEMBL: ENSMUSP00000130926 (fasta)

Gene Model

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

AlphaFold

Q8K3W3

Predicted Effect

probably null
Transcript: ENSMUST00000017384
AA Change: Y91*

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: Y91*

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: 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: ENSMUST00000141696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147065

Predicted Effect

probably null
Transcript: ENSMUST00000169695
AA Change: Y91*

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: Y91*

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: ENSMUST00000153181

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,654,685 (GRCm39)	L173P	probably damaging	Het
Agl	A	T	3: 116,582,209 (GRCm39)	V271D	possibly damaging	Het
Alox15	G	T	11: 70,240,808 (GRCm39)	P191T	probably benign	Het
Apaf1	T	C	10: 90,890,254 (GRCm39)	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,070,375 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,365,848 (GRCm39)	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,756,583 (GRCm39)		probably benign	Het
Car11	T	C	7: 45,349,885 (GRCm39)	W35R	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cd22	A	T	7: 30,569,496 (GRCm39)	I540N	probably damaging	Het
Chad	A	T	11: 94,456,072 (GRCm39)	E50V	probably damaging	Het
Chd3	C	G	11: 69,252,301 (GRCm39)	G34R	probably damaging	Het
Col9a1	T	C	1: 24,218,619 (GRCm39)	V77A	unknown	Het
Copg1	G	A	6: 87,889,276 (GRCm39)	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,363,363 (GRCm39)	V3975E	probably damaging	Het
Dock6	A	T	9: 21,728,703 (GRCm39)	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,745,507 (GRCm39)	K150*	probably null	Het
Eri3	A	C	4: 117,472,386 (GRCm39)	Y260S	possibly damaging	Het
Esrrg	C	T	1: 187,943,304 (GRCm39)	L426F	probably damaging	Het
Farp1	G	T	14: 121,474,584 (GRCm39)	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,897 (GRCm39)	E2459G	probably damaging	Het
Glis1	G	A	4: 107,293,074 (GRCm39)	D66N	probably damaging	Het
Gm14129	T	A	2: 148,773,446 (GRCm39)		noncoding transcript	Het
Gm28051	A	G	12: 102,686,415 (GRCm39)	*82R	probably null	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gne	C	T	4: 44,041,843 (GRCm39)	V485M	probably damaging	Het
Lcn10	T	A	2: 25,572,841 (GRCm39)	V15E	probably benign	Het
Mapk11	T	A	15: 89,029,380 (GRCm39)		probably null	Het
Me3	T	G	7: 89,455,876 (GRCm39)	Y243D	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,483,958 (GRCm39)	L519*	probably null	Het
Myo9a	T	C	9: 59,687,495 (GRCm39)	V200A	probably damaging	Het
Mzf1	T	A	7: 12,785,526 (GRCm39)	Q161H	possibly damaging	Het
Nim1k	T	G	13: 120,189,130 (GRCm39)	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,811,532 (GRCm39)	R190L	probably damaging	Het
Noc3l	A	G	19: 38,782,625 (GRCm39)	V671A	probably benign	Het
Nsd1	T	C	13: 55,460,543 (GRCm39)	S2257P	probably benign	Het
Nup210	T	A	6: 91,003,945 (GRCm39)	I648F	probably damaging	Het
Oplah	T	C	15: 76,189,944 (GRCm39)	E223G	possibly damaging	Het
Or5b120	T	C	19: 13,480,556 (GRCm39)	M283T	probably benign	Het
Plekhs1	A	C	19: 56,474,224 (GRCm39)	T457P	probably damaging	Het
Plppr4	G	A	3: 117,119,551 (GRCm39)	T286I	probably benign	Het
Prpf4b	T	C	13: 35,068,037 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,878 (GRCm39)	D318E	possibly damaging	Het
Psap	A	G	10: 60,134,959 (GRCm39)	E289G	possibly damaging	Het
Rad17	A	G	13: 100,764,157 (GRCm39)	V438A	possibly damaging	Het
Raf1	T	C	6: 115,597,217 (GRCm39)	S28G	probably benign	Het
Ranbp2	A	G	10: 58,329,561 (GRCm39)	D2978G	probably benign	Het
Rnf170	T	A	8: 26,631,027 (GRCm39)	D213E	probably damaging	Het
Rsph3a	T	A	17: 8,164,905 (GRCm39)	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,395,198 (GRCm39)	I9T	probably benign	Het
Sgk3	T	C	1: 9,968,911 (GRCm39)		probably benign	Het
Slc14a1	C	T	18: 78,145,686 (GRCm39)	S416N	probably benign	Het
Smok4a	T	C	17: 13,746,474 (GRCm39)		noncoding transcript	Het
Sostdc1	A	T	12: 36,367,165 (GRCm39)	I114F	probably damaging	Het
Spen	G	A	4: 141,202,375 (GRCm39)	T2084I	possibly damaging	Het
Spen	G	T	4: 141,244,149 (GRCm39)	D295E	unknown	Het
Sptbn5	T	C	2: 119,890,202 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,101,184 (GRCm39)		probably benign	Het
Tcea3	A	T	4: 135,998,683 (GRCm39)	Y319F	probably damaging	Het
Timd4	T	A	11: 46,710,807 (GRCm39)		probably null	Het
Tmem88b	G	A	4: 155,870,002 (GRCm39)	P20S	probably damaging	Het
Tsen2	T	A	6: 115,538,365 (GRCm39)	C281S	probably damaging	Het
Vmn2r28	T	C	7: 5,487,011 (GRCm39)	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,832 (GRCm39)	H732R	probably benign	Het
Wdr90	A	G	17: 26,063,995 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,344,836 (GRCm39)	S1072P	probably benign	Het
Zfp148	A	G	16: 33,255,004 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,790,851 (GRCm39)	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,740,499 (GRCm39)	F599L	probably damaging	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
IGL02964:Casc3	APN	11	98,719,749 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGTCCCAAAGTTCTCCATC -3'
(R):5'- TCATTAACCGGGCAAGGCTG -3'

Sequencing Primer
(F):5'- CAAAGTTCTCCATCTGTCAACAG -3'
(R):5'- GCTGGAATTAAAGACATGTGCCACC -3'

Posted On

2016-10-05