Mutagenetix > Incidental Mutation

Incidental Mutation 'R2021:Casc3'

224019

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

exon junction complex subunit

Synonyms

Mln51, Btz

MMRRC Submission

040030-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R2021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98700634-98724633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98712332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 124 (S124T)

Ref Sequence

ENSEMBL: ENSMUSP00000130926 (fasta)

Gene Model

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

AlphaFold

Q8K3W3

Predicted Effect

probably benign
Transcript: ENSMUST00000017384
AA Change: S124T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: S124T

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 benign
Transcript: ENSMUST00000169695
AA Change: S124T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: S124T

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

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,035,450 (GRCm39)	S316T	probably damaging	Het
Alox8	C	T	11: 69,077,114 (GRCm39)	V460I	probably damaging	Het
Aoc1l2	T	C	6: 48,908,385 (GRCm39)	S462P	probably damaging	Het
Arvcf	G	A	16: 18,218,482 (GRCm39)	A491T	probably damaging	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Btbd7	A	G	12: 102,756,968 (GRCm39)	L706P	probably damaging	Het
Camk2d	T	A	3: 126,574,105 (GRCm39)	W171R	probably damaging	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc182	T	C	11: 88,184,962 (GRCm39)	V14A	possibly damaging	Het
Ccdc80	A	T	16: 44,943,275 (GRCm39)	Q795L	probably damaging	Het
Ccdc88a	T	G	11: 29,453,480 (GRCm39)	S1614R	probably damaging	Het
Cemip2	G	A	19: 21,822,114 (GRCm39)	A1170T	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,313,360 (GRCm39)	V3070A	probably benign	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Flt3	A	T	5: 147,306,300 (GRCm39)	I276N	probably damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Golph3l	T	A	3: 95,524,668 (GRCm39)	D306E	probably benign	Het
Grk2	T	A	19: 4,340,698 (GRCm39)	I254F	probably damaging	Het
Hgf	C	T	5: 16,781,919 (GRCm39)	T214I	probably benign	Het
Hoxc5	C	A	15: 102,922,814 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ipp	A	G	4: 116,372,565 (GRCm39)	Y198C	probably benign	Het
Ism1	T	A	2: 139,582,047 (GRCm39)		probably null	Het
Klhl42	A	G	6: 146,993,394 (GRCm39)	Y122C	possibly damaging	Het
Klk1b21	A	T	7: 43,755,418 (GRCm39)	K206*	probably null	Het
Lcn11	A	G	2: 25,668,097 (GRCm39)	K85R	probably benign	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Myh2	A	T	11: 67,082,545 (GRCm39)	N1372Y	probably damaging	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,255 (GRCm39)	D46G	probably damaging	Het
Obscn	C	T	11: 58,958,000 (GRCm39)	D3567N	probably benign	Het
Or1j17	G	C	2: 36,578,487 (GRCm39)	V158L	probably benign	Het
Or2z9	G	T	8: 72,853,930 (GRCm39)	V109F	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Pamr1	T	A	2: 102,464,880 (GRCm39)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Ppm1h	T	A	10: 122,714,433 (GRCm39)	L324*	probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prkdc	G	A	16: 15,494,873 (GRCm39)	V748I	probably benign	Het
Prss47	A	G	13: 65,199,591 (GRCm39)	V96A	probably benign	Het
Rsbn1	C	T	3: 103,821,789 (GRCm39)	T8I	probably benign	Het
Rsf1	GGCG	GGCGACGGCGGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Sfrp4	A	T	13: 19,816,496 (GRCm39)	I177F	probably benign	Het
Sh3bp2	A	G	5: 34,701,569 (GRCm39)		probably benign	Het
Slc7a12	A	G	3: 14,562,393 (GRCm39)	T257A	probably damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Specc1l	T	C	10: 75,103,425 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,534,716 (GRCm39)	T3658A	probably benign	Het
Styxl2	A	T	1: 165,928,392 (GRCm39)	W407R	probably benign	Het
Tmem30c	T	C	16: 57,101,725 (GRCm39)	T68A	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Trrap	A	G	5: 144,790,298 (GRCm39)	N3586S	possibly damaging	Het
Usp14	T	C	18: 10,024,632 (GRCm39)	T22A	probably damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r108	G	A	17: 20,691,252 (GRCm39)	H424Y	probably benign	Het
Wdr81	C	A	11: 75,336,788 (GRCm39)	E1534*	probably null	Het
Zc3h13	A	G	14: 75,567,635 (GRCm39)	E976G	probably damaging	Het
Zfp128	T	C	7: 12,623,956 (GRCm39)	L108P	possibly damaging	Het
Zfp644	T	C	5: 106,783,548 (GRCm39)	I1000V	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CTGTAGTGAAGTCTGTCAGGAAATG -3'
(R):5'- CCTCGAAGATCGTGCTCAAAGAAG -3'

Sequencing Primer
(F):5'- GAAGTCTGTCAGGAAATGTTTCTC -3'
(R):5'- CATCGTCATCCAAGTGCTTAGGG -3'

Posted On

2014-08-25