Mutagenetix > Incidental Mutation

Incidental Mutation 'R7659:Casc3'

591458

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

cancer susceptibility candidate 3

Synonyms

Btz, Mln51

MMRRC Submission

045734-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98804905-98833814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 98809873 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 4 (R4G)

Ref Sequence

ENSEMBL: ENSMUSP00000130926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017384] [ENSMUST00000037915] [ENSMUST00000037930] [ENSMUST00000107487] [ENSMUST00000169695]

AlphaFold

Q8K3W3

Predicted Effect

unknown
Transcript: ENSMUST00000017384
AA Change: R4G

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: R4G

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: ENSMUST00000037930

SMART Domains

Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
coiled coil region	18	56	N/A	INTRINSIC
low complexity region	59	70	N/A	INTRINSIC
low complexity region	211	223	N/A	INTRINSIC
PEHE	229	347	2.73e-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

unknown
Transcript: ENSMUST00000169695
AA Change: R4G

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: R4G

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: 99.2%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,568,960 (GRCm38)	E498G	probably damaging	Het
Ankar	T	C	1: 72,690,135 (GRCm38)	T284A	possibly damaging	Het
Arid5b	C	T	10: 68,098,587 (GRCm38)	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741 (GRCm38)	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,071,972 (GRCm38)	I452T	probably damaging	Het
Azgp1	G	T	5: 137,987,513 (GRCm38)	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,074,719 (GRCm38)	S667P	unknown	Het
C1qtnf9	T	A	14: 60,772,304 (GRCm38)	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,830,619 (GRCm38)	T199P	unknown	Het
Cass4	A	G	2: 172,427,027 (GRCm38)	D343G	probably damaging	Het
Ccdc84	T	C	9: 44,413,493 (GRCm38)	E164G	probably damaging	Het
Col6a3	T	A	1: 90,781,745 (GRCm38)	T2517S	unknown	Het
Dbr1	A	G	9: 99,576,610 (GRCm38)	T78A	probably damaging	Het
Dnah9	A	G	11: 65,989,780 (GRCm38)	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,889,462 (GRCm38)	I431T	probably damaging	Het
Got1	A	G	19: 43,504,639 (GRCm38)	V281A	probably benign	Het
Gpld1	A	C	13: 24,979,981 (GRCm38)	R555S	probably benign	Het
Gpr149	T	C	3: 62,603,835 (GRCm38)	R248G	probably benign	Het
Hps3	G	A	3: 20,022,814 (GRCm38)	R395*	probably null	Het
Inpp5b	T	C	4: 124,795,426 (GRCm38)	L833P	probably damaging	Het
Itgb4	A	T	11: 115,979,731 (GRCm38)	S129C	probably damaging	Het
Kif1a	T	A	1: 93,046,820 (GRCm38)		probably benign	Het
Lgr4	T	A	2: 109,996,766 (GRCm38)	V205E	probably damaging	Het
Mbd3	T	C	10: 80,395,185 (GRCm38)	N96S	probably damaging	Het
Mcam	T	A	9: 44,136,770 (GRCm38)	C136S	unknown	Het
Mki67	A	G	7: 135,697,426 (GRCm38)	S1960P	probably damaging	Het
Mogs	G	A	6: 83,116,825 (GRCm38)		probably null	Het
Muc6	T	C	7: 141,637,060 (GRCm38)	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,861,220 (GRCm38)	H470N	possibly damaging	Het
Nae1	A	G	8: 104,516,164 (GRCm38)	V432A	probably benign	Het
Nav3	T	G	10: 109,766,990 (GRCm38)	T1233P	probably benign	Het
Nme9	G	A	9: 99,470,857 (GRCm38)	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,636,135 (GRCm38)	I8V	probably benign	Het
Noa1	T	C	5: 77,309,390 (GRCm38)	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269 (GRCm38)	Y8H	probably damaging	Het
Olfr1112	T	A	2: 87,192,365 (GRCm38)	V226E	possibly damaging	Het
Olfr1181	T	C	2: 88,423,926 (GRCm38)	Y33C	probably damaging	Het
Olfr124	A	T	17: 37,805,163 (GRCm38)	Q6L	probably benign	Het
Olfr25	T	C	9: 38,329,716 (GRCm38)	V40A	possibly damaging	Het
Olfr344	T	A	2: 36,568,625 (GRCm38)	V9E	possibly damaging	Het
Olfr649	T	C	7: 104,190,187 (GRCm38)	S7G	probably benign	Het
Olfr733	T	C	14: 50,299,241 (GRCm38)	I23V	probably benign	Het
Olfr847	C	T	9: 19,375,558 (GRCm38)	A108T	probably benign	Het
Otoa	T	A	7: 121,134,044 (GRCm38)	H711Q	probably benign	Het
Otogl	T	A	10: 107,777,120 (GRCm38)	E2048D	probably benign	Het
Paip1	C	T	13: 119,450,770 (GRCm38)	T390I	possibly damaging	Het
Pcdha3	A	G	18: 36,948,166 (GRCm38)	T654A	probably benign	Het
Pigg	G	A	5: 108,338,619 (GRCm38)	V713I	probably benign	Het
Ppt1	T	A	4: 122,836,333 (GRCm38)	H26Q	probably benign	Het
Prim1	T	C	10: 128,026,589 (GRCm38)		probably null	Het
Prmt7	G	T	8: 106,237,286 (GRCm38)	A271S	probably benign	Het
Ptprd	T	C	4: 76,128,916 (GRCm38)	D124G	probably benign	Het
Rad54l2	T	C	9: 106,713,578 (GRCm38)	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,401,827 (GRCm38)	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,375,966 (GRCm38)		probably null	Het
Siglecf	A	G	7: 43,351,770 (GRCm38)	Y54C	probably damaging	Het
Stk31	T	A	6: 49,423,406 (GRCm38)	N388K	probably benign	Het
Timm23	A	C	14: 32,198,978 (GRCm38)	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,636,335 (GRCm38)	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,893,009 (GRCm38)	A592E	probably damaging	Het
Trim30d	A	T	7: 104,472,347 (GRCm38)	V397E	probably benign	Het
Tshz1	A	T	18: 84,016,075 (GRCm38)	N69K	probably damaging	Het
Upk2	A	C	9: 44,453,511 (GRCm38)	S130R	probably damaging	Het
Vmn1r80	A	G	7: 12,193,050 (GRCm38)	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,573,487 (GRCm38)	I31T	probably benign	Het
Zfp975	T	C	7: 42,662,424 (GRCm38)	Q255R	probably benign	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
R7660:Casc3	UTSW	11	98,809,873 (GRCm38)	missense	unknown
R8443:Casc3	UTSW	11	98,822,781 (GRCm38)	missense	probably damaging	1.00
R8444: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'- CTCGCTCTCCAGAAAACGTG -3'
(R):5'- GCATCTCACAGCATCTCCAG -3'

Sequencing Primer
(F):5'- TCCAGAAAACGTGCCGCAG -3'
(R):5'- ACACTCAGACTCCTCGGCG -3'

Posted On

2019-11-12