Mutagenetix > Incidental Mutation

Incidental Mutation 'R7594:Casc3'

587638

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

exon junction complex subunit

Synonyms

Mln51, Btz

MMRRC Submission

045670-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R7594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98700634-98724633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98712311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 117 (A117T)

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: A117T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: A117T

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: ENSMUST00000169695
AA Change: A117T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: A117T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Acsm3	A	G	7: 119,384,213 (GRCm39)		probably null	Het
Acvr2a	T	A	2: 48,784,749 (GRCm39)	L345*	probably null	Het
App	T	C	16: 84,876,890 (GRCm39)	D167G	unknown	Het
Arhgef33	A	G	17: 80,677,734 (GRCm39)	D427G	probably damaging	Het
Arid2	T	C	15: 96,288,875 (GRCm39)	S1675P	probably damaging	Het
Atp8a1	T	C	5: 67,808,935 (GRCm39)	Y985C		Het
AW209491	A	G	13: 14,811,831 (GRCm39)	D228G	probably benign	Het
Cass4	C	T	2: 172,271,568 (GRCm39)	P645S	probably benign	Het
Ccar2	A	T	14: 70,379,243 (GRCm39)	Y553*	probably null	Het
Cox16	A	T	12: 81,521,352 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,151,551 (GRCm39)	V275E	possibly damaging	Het
Dido1	A	G	2: 180,316,905 (GRCm39)	V634A	probably benign	Het
Dnajb1	G	A	8: 84,336,473 (GRCm39)	S81N	probably benign	Het
Dst	A	G	1: 34,252,094 (GRCm39)	K2262E	probably damaging	Het
Eya3	T	C	4: 132,422,136 (GRCm39)	V237A	probably benign	Het
Fbxo31	T	A	8: 122,279,107 (GRCm39)	D460V	probably damaging	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Gabrg3	A	T	7: 56,632,443 (GRCm39)	N168K	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10134	T	C	2: 28,396,372 (GRCm39)	M89T	unknown	Het
Kif17	T	C	4: 138,005,236 (GRCm39)	L267P	probably damaging	Het
Ksr2	C	A	5: 117,693,131 (GRCm39)	T193N	possibly damaging	Het
Lmtk2	T	C	5: 144,110,564 (GRCm39)	L428P	probably damaging	Het
Mdn1	G	T	4: 32,696,359 (GRCm39)	L1247F	probably benign	Het
Med24	T	C	11: 98,605,923 (GRCm39)	Y323C	probably damaging	Het
Mthfd2	A	G	6: 83,283,665 (GRCm39)	V339A	probably benign	Het
Mtus2	G	T	5: 148,014,216 (GRCm39)	R336S	probably benign	Het
Muc16	T	C	9: 18,556,358 (GRCm39)	T3312A	unknown	Het
Nacad	A	G	11: 6,552,457 (GRCm39)	S245P	probably damaging	Het
Nacc1	T	C	8: 85,401,631 (GRCm39)	D394G	probably damaging	Het
Nfatc2	A	G	2: 168,365,268 (GRCm39)	V582A	probably damaging	Het
Nid2	T	A	14: 19,818,791 (GRCm39)	D428E	probably benign	Het
Or10ag57	A	G	2: 87,218,613 (GRCm39)	H188R	probably damaging	Het
Or4a80	T	A	2: 89,582,906 (GRCm39)	T89S	probably benign	Het
Or56a4	A	G	7: 104,806,880 (GRCm39)	L3S	probably benign	Het
Osbpl5	A	T	7: 143,247,534 (GRCm39)	L768Q	probably benign	Het
Plch2	C	T	4: 155,091,484 (GRCm39)	V210I	probably damaging	Het
Plekhh1	C	T	12: 79,123,277 (GRCm39)	T1153I	possibly damaging	Het
Ppp1r14c	T	C	10: 3,316,670 (GRCm39)	S2P	possibly damaging	Het
Pramel26	A	T	4: 143,539,286 (GRCm39)	I69N	probably damaging	Het
Psmd5	G	T	2: 34,750,741 (GRCm39)	H239Q	probably benign	Het
Ptcd2	C	A	13: 99,456,790 (GRCm39)	A345S	possibly damaging	Het
Sap30l	G	A	11: 57,700,947 (GRCm39)		probably null	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Slc2a9	A	G	5: 38,508,634 (GRCm39)	I470T	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Syne1	A	G	10: 5,165,190 (GRCm39)		probably null	Het
Tg	T	A	15: 66,601,432 (GRCm39)	D1766E	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tlr6	T	C	5: 65,110,594 (GRCm39)	Y771C	probably damaging	Het
Tnrc6b	T	A	15: 80,764,508 (GRCm39)	V670E	possibly damaging	Het
Top2b	A	G	14: 16,428,587 (GRCm38)	T1522A	probably benign	Het
Tpcn1	A	G	5: 120,694,595 (GRCm39)	M158T	possibly damaging	Het
Ttn	T	C	2: 76,557,186 (GRCm39)	I29940V	probably benign	Het
Ttn	G	A	2: 76,581,698 (GRCm39)	T23065I	probably damaging	Het
Umodl1	A	G	17: 31,173,779 (GRCm39)	S20G	probably benign	Het
Uts2r	G	T	11: 121,052,191 (GRCm39)	V352F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,342 (GRCm39)	M202K	possibly damaging	Het
Vmn2r107	T	C	17: 20,580,635 (GRCm39)	V524A	probably benign	Het
Zc3h12d	C	A	10: 7,738,382 (GRCm39)	D229E	probably damaging	Het
Zfp541	A	G	7: 15,810,311 (GRCm39)	D116G	probably damaging	Het
Zfp971	A	G	2: 177,675,793 (GRCm39)	E464G	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
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
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'- GCCCTGCCTTTGAAATGCTTG -3'
(R):5'- TCCTGGAAAATAAGGGCCTCC -3'

Sequencing Primer
(F):5'- GTATCTCCTATAGAACAGGCTGGC -3'
(R):5'- CTTACTCTTCCACATCCAGGGAC -3'

Posted On

2019-10-24