Mutagenetix > Incidental Mutation

Incidental Mutation 'R0763:Casc3'

72522

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

exon junction complex subunit

Synonyms

Mln51, Btz

MMRRC Submission

038943-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R0763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98700634-98724633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98722144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 661 (Y661H)

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: Y661H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: Y661H

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: Y661H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: Y661H

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

Meta Mutation Damage Score

0.3264

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

Validation Efficiency

96% (52/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,815,261 (GRCm39)	F290V	probably damaging	Het
Adam26b	G	A	8: 43,973,601 (GRCm39)	S467L	probably damaging	Het
Adgrv1	T	A	13: 81,647,244 (GRCm39)	I3099F	probably damaging	Het
Akap6	A	G	12: 53,188,997 (GRCm39)	D2137G	possibly damaging	Het
Arhgdig	T	C	17: 26,419,275 (GRCm39)	Y48C	probably damaging	Het
Astn1	A	G	1: 158,337,460 (GRCm39)	I389V	possibly damaging	Het
Atp8a1	T	C	5: 67,817,226 (GRCm39)	D920G	probably benign	Het
BC016579	T	A	16: 45,449,818 (GRCm39)	N200I	probably damaging	Het
Cep120	A	C	18: 53,854,809 (GRCm39)	V442G	probably benign	Het
Cfap65	A	G	1: 74,943,841 (GRCm39)	Y1557H	probably damaging	Het
Chd2	G	T	7: 73,097,022 (GRCm39)	Q1485K	possibly damaging	Het
Cntrl	T	C	2: 35,061,078 (GRCm39)	F1967L	probably benign	Het
Csmd1	G	A	8: 17,077,300 (GRCm39)	T119M	possibly damaging	Het
Dnah9	T	C	11: 66,046,356 (GRCm39)	H64R	probably benign	Het
Ep400	T	C	5: 110,813,703 (GRCm39)	R2899G	probably damaging	Het
Foxl2	A	C	9: 98,838,086 (GRCm39)	T125P	probably damaging	Het
Foxred1	A	T	9: 35,118,769 (GRCm39)		probably null	Het
H2-Eb1	T	A	17: 34,533,133 (GRCm39)		probably benign	Het
Heatr3	T	C	8: 88,884,869 (GRCm39)	S378P	probably damaging	Het
Hectd4	T	C	5: 121,445,096 (GRCm39)		probably benign	Het
Hps3	T	G	3: 20,057,443 (GRCm39)	R780S	probably damaging	Het
Ifi44	G	A	3: 151,455,135 (GRCm39)	A30V	probably damaging	Het
Il12rb1	G	A	8: 71,265,934 (GRCm39)		probably benign	Het
Invs	G	A	4: 48,392,628 (GRCm39)	G281R	possibly damaging	Het
Itgax	C	A	7: 127,747,112 (GRCm39)		probably benign	Het
Jade1	G	T	3: 41,568,218 (GRCm39)	C762F	possibly damaging	Het
Lama1	C	T	17: 68,079,813 (GRCm39)	P1229S	probably damaging	Het
Mmp15	C	A	8: 96,094,856 (GRCm39)	D243E	probably benign	Het
Mug2	A	G	6: 122,052,253 (GRCm39)	T1004A	probably benign	Het
Myh14	A	T	7: 44,314,791 (GRCm39)	V44E	probably damaging	Het
N4bp2l1	C	A	5: 150,517,869 (GRCm39)	R11S	possibly damaging	Het
Notch4	T	A	17: 34,784,306 (GRCm39)	C36*	probably null	Het
Nwd1	A	G	8: 73,397,672 (GRCm39)	D637G	probably damaging	Het
Ogfod1	T	C	8: 94,782,264 (GRCm39)	I238T	probably benign	Het
Pakap	G	A	4: 57,688,441 (GRCm39)	E95K	probably damaging	Het
Papln	A	G	12: 83,838,639 (GRCm39)	D1256G	possibly damaging	Het
Ppp1r26	T	C	2: 28,340,379 (GRCm39)	L3P	probably damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,460,372 (GRCm39)		probably benign	Het
Slc25a17	A	G	15: 81,207,907 (GRCm39)		probably benign	Het
Socs4	T	C	14: 47,528,112 (GRCm39)	F349S	probably damaging	Het
Spata31f1a	A	G	4: 42,851,238 (GRCm39)	V306A	probably damaging	Het
Tchhl1	A	C	3: 93,378,878 (GRCm39)	E527D	probably benign	Het
Tm7sf3	A	G	6: 146,507,787 (GRCm39)	L425S	possibly damaging	Het
Tmem266	G	T	9: 55,322,239 (GRCm39)	V112L	probably damaging	Het
Tmem30c	T	A	16: 57,090,539 (GRCm39)	I223F	possibly damaging	Het
Tomm70a	G	A	16: 56,942,535 (GRCm39)	G104D	probably benign	Het
Ttc17	G	T	2: 94,163,148 (GRCm39)	A834E	probably benign	Het
Ttn	C	T	2: 76,561,534 (GRCm39)	V20664M	probably damaging	Het
Zbed5	T	C	5: 129,931,020 (GRCm39)	V323A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCAGCAATGCCAGGCTTAC -3'
(R):5'- ACACTGAGAGTCACAGTACACTGGG -3'

Sequencing Primer
(F):5'- tttgagacagggagtcactatg -3'
(R):5'- AACTCTTATTAACTGGAACCCCTG -3'

Posted On

2013-09-30