Mutagenetix > Incidental Mutation

Incidental Mutation 'R8444:Casc3'

654396

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

cancer susceptibility candidate 3

Synonyms

Btz, Mln51

MMRRC Submission

067826-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R8444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98804905-98833814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98822781 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 280 (R280C)

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: R280C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: R280C

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: R280C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: R280C

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: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,236,929 (GRCm38)	R56S	possibly damaging	Het
1700013F07Rik	A	G	3: 108,544,068 (GRCm38)	H115R	probably benign	Het
Abca14	T	A	7: 120,318,910 (GRCm38)	I1545K	probably damaging	Het
Abca3	A	G	17: 24,383,985 (GRCm38)	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,174,636 (GRCm38)	V535A	probably benign	Het
Adcy9	T	C	16: 4,288,623 (GRCm38)	T1113A	probably damaging	Het
Afdn	A	T	17: 13,883,800 (GRCm38)	N1133Y	probably benign	Het
Aip	T	A	19: 4,116,034 (GRCm38)	D139V	probably damaging	Het
Akap13	G	A	7: 75,730,465 (GRCm38)	R462H	probably damaging	Het
Aldh16a1	G	A	7: 45,149,691 (GRCm38)	P56S	probably benign	Het
Alpk3	A	C	7: 81,057,720 (GRCm38)	T31P	probably benign	Het
Aoc3	G	T	11: 101,341,747 (GRCm38)	R466S	unknown	Het
Atoh1	T	C	6: 64,729,657 (GRCm38)	L112P	probably benign	Het
Atp2b2	T	A	6: 113,793,811 (GRCm38)	N424I	probably benign	Het
Brms1	T	C	19: 5,041,492 (GRCm38)		probably null	Het
Cd34	T	A	1: 194,958,500 (GRCm38)	S224R	probably benign	Het
Cdh20	T	A	1: 104,970,858 (GRCm38)	F437I	probably benign	Het
Cdkal1	A	T	13: 29,326,104 (GRCm38)	V557E	probably benign	Het
Chst5	T	C	8: 111,890,763 (GRCm38)	H75R	probably damaging	Het
Col5a2	A	T	1: 45,396,145 (GRCm38)	N713K	probably benign	Het
Cpne5	A	T	17: 29,188,383 (GRCm38)	M181K	probably benign	Het
Cpt1a	T	C	19: 3,381,981 (GRCm38)	F731S	probably benign	Het
Cyfip1	A	G	7: 55,872,154 (GRCm38)	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,570,823 (GRCm38)	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,273,952 (GRCm38)	H805L	probably benign	Het
Dnm1l	C	T	16: 16,341,042 (GRCm38)	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,089,579 (GRCm38)	D612V	probably benign	Het
Ephb2	C	T	4: 136,661,400 (GRCm38)	G628R	probably damaging	Het
Esrrb	G	A	12: 86,505,821 (GRCm38)	R195H	probably benign	Het
Flg2	A	T	3: 93,200,278 (GRCm38)	E23D	probably damaging	Het
Gja8	A	G	3: 96,919,674 (GRCm38)	L224P	probably damaging	Het
Hps6	T	G	19: 46,005,428 (GRCm38)	S601R	possibly damaging	Het
Ice1	T	C	13: 70,604,376 (GRCm38)	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,403,969 (GRCm38)	A366D	possibly damaging	Het
Ighm	A	C	12: 113,421,193 (GRCm38)	S347A		Het
Immt	C	T	6: 71,871,508 (GRCm38)	R494*	probably null	Het
Irs2	A	G	8: 11,006,683 (GRCm38)	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,926,140 (GRCm38)	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245 (GRCm38)	I716F	probably benign	Het
Klhl1	T	A	14: 96,517,890 (GRCm38)	D143V	probably benign	Het
Lrp1b	T	C	2: 40,870,260 (GRCm38)	T2999A		Het
Map3k9	A	G	12: 81,722,196 (GRCm38)	L1026P	probably damaging	Het
Mtg1	T	C	7: 140,138,370 (GRCm38)	V54A	probably damaging	Het
Mx1	G	T	16: 97,451,487 (GRCm38)	C231*	probably null	Het
Olfr1129	G	A	2: 87,575,739 (GRCm38)	M218I	probably benign	Het
Olfr478	C	A	7: 108,031,863 (GRCm38)	W160L	probably benign	Het
Olfr507	A	G	7: 108,621,820 (GRCm38)	I3V	probably benign	Het
Olfr680-ps1	A	G	7: 105,090,958 (GRCm38)	V227A	probably damaging	Het
Olfr808	T	A	10: 129,767,925 (GRCm38)	V143E	probably damaging	Het
Otogl	T	A	10: 107,857,114 (GRCm38)	E836D	probably benign	Het
Pde6d	A	G	1: 86,543,528 (GRCm38)	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm38)		probably benign	Het
Pon1	C	T	6: 5,177,327 (GRCm38)	W194*	probably null	Het
Rbm25	T	A	12: 83,664,251 (GRCm38)	S379R	unknown	Het
Rnf111	A	T	9: 70,457,941 (GRCm38)	S415T	probably benign	Het
Shoc2	A	G	19: 53,988,072 (GRCm38)	Y131C	probably damaging	Het
Slc17a2	A	T	13: 23,819,078 (GRCm38)	H237L	probably benign	Het
Slc23a1	T	A	18: 35,624,436 (GRCm38)	M261L	possibly damaging	Het
Slc35d1	G	C	4: 103,214,699 (GRCm38)	I35M		Het
Slc8b1	C	T	5: 120,513,138 (GRCm38)		probably benign	Het
Smr3a	A	C	5: 88,004,752 (GRCm38)	L8F	unknown	Het
Snx8	G	A	5: 140,358,174 (GRCm38)	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,775,548 (GRCm38)	V325A	possibly damaging	Het
Stk40	A	G	4: 126,118,334 (GRCm38)	T10A	probably benign	Het
Tmem177	A	T	1: 119,910,220 (GRCm38)	V243D	probably benign	Het
Trim6	G	A	7: 104,232,672 (GRCm38)	V403M	probably damaging	Het
Ttc25	G	T	11: 100,561,905 (GRCm38)		probably null	Het
Tysnd1	A	G	10: 61,696,171 (GRCm38)	R201G	probably benign	Het
Vmn2r67	A	T	7: 85,136,646 (GRCm38)	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,738,175 (GRCm38)	V727A	probably benign	Het
Wdr49	A	C	3: 75,451,690 (GRCm38)	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,432,631 (GRCm38)	V247A	probably benign	Het
Zfp532	C	A	18: 65,624,259 (GRCm38)	A421E	possibly damaging	Het

Other mutations in Casc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Casc3	APN	11	98,823,202 (GRCm38)	missense	possibly damaging	0.62
IGL01566:Casc3	APN	11	98,823,401 (GRCm38)	critical splice donor site	probably null
IGL01901:Casc3	APN	11	98,823,121 (GRCm38)	missense	probably damaging	1.00
IGL02345:Casc3	APN	11	98,827,564 (GRCm38)	splice site	probably benign
IGL02875:Casc3	APN	11	98,821,552 (GRCm38)	missense	probably damaging	1.00
IGL02964:Casc3	APN	11	98,828,923 (GRCm38)	missense	probably damaging	0.96
R0147:Casc3	UTSW	11	98,822,499 (GRCm38)	missense	possibly damaging	0.89
R0195:Casc3	UTSW	11	98,821,493 (GRCm38)	missense	probably damaging	0.99
R0763:Casc3	UTSW	11	98,831,318 (GRCm38)	missense	probably damaging	1.00
R1581:Casc3	UTSW	11	98,822,818 (GRCm38)	missense	possibly damaging	0.66
R2021:Casc3	UTSW	11	98,821,506 (GRCm38)	missense	probably benign	0.01
R4380:Casc3	UTSW	11	98,823,031 (GRCm38)	missense	possibly damaging	0.67
R4612:Casc3	UTSW	11	98,822,958 (GRCm38)	missense	probably benign	0.13
R4988:Casc3	UTSW	11	98,821,874 (GRCm38)	splice site	probably null
R5079:Casc3	UTSW	11	98,810,426 (GRCm38)	intron	probably benign
R5442:Casc3	UTSW	11	98,821,471 (GRCm38)	missense	probably damaging	0.99
R5511:Casc3	UTSW	11	98,810,914 (GRCm38)	nonsense	probably null
R5873:Casc3	UTSW	11	98,821,444 (GRCm38)	missense	unknown
R6041:Casc3	UTSW	11	98,828,559 (GRCm38)	missense	probably damaging	1.00
R6685:Casc3	UTSW	11	98,822,530 (GRCm38)	missense	probably damaging	0.99
R7030:Casc3	UTSW	11	98,822,533 (GRCm38)	missense	possibly damaging	0.74
R7107:Casc3	UTSW	11	98,827,587 (GRCm38)	missense	possibly damaging	0.93
R7594:Casc3	UTSW	11	98,821,485 (GRCm38)	missense	probably benign	0.04
R7659:Casc3	UTSW	11	98,809,873 (GRCm38)	missense	unknown
R7660:Casc3	UTSW	11	98,809,873 (GRCm38)	missense	unknown
R8443:Casc3	UTSW	11	98,822,781 (GRCm38)	missense	probably damaging	1.00
R8491:Casc3	UTSW	11	98,823,151 (GRCm38)	missense	probably benign	0.27
R8516:Casc3	UTSW	11	98,822,781 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTTGGAACATCTCCCTGAC -3'
(R):5'- CGTGACCGGTAACTAGCTTCATG -3'

Sequencing Primer
(F):5'- GGAACATCTCCCTGACTCCTTTGG -3'
(R):5'- GCTTCATGCTTAAGAGTCTCAGCAG -3'

Posted On

2020-10-20