Mutagenetix > Incidental Mutation

Incidental Mutation 'R6041:Casc3'

483563

Institutional Source

Beutler Lab

Gene Symbol

Casc3

Ensembl Gene

ENSMUSG00000078676

Gene Name

exon junction complex subunit

Synonyms

Mln51, Btz

MMRRC Submission

044209-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R6041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98700634-98724633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98719385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 509 (V509G)

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: V509G

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

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: V509G

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: V509G

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

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: V509G

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

0.4785

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,354 (GRCm39)	M297K	probably damaging	Het
Ace	A	C	11: 105,866,134 (GRCm39)	H34P	probably benign	Het
Agbl2	A	T	2: 90,638,371 (GRCm39)	N652I	probably benign	Het
Auh	T	A	13: 53,073,122 (GRCm39)	L86F	possibly damaging	Het
Bmp10	A	G	6: 87,411,302 (GRCm39)	K365R	probably damaging	Het
Cacna1d	A	T	14: 29,764,314 (GRCm39)	S2086T	probably damaging	Het
Calcoco1	C	A	15: 102,626,374 (GRCm39)	R105L	possibly damaging	Het
Clmn	A	G	12: 104,748,131 (GRCm39)	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,458,852 (GRCm39)	S142C	probably damaging	Het
Derl3	T	C	10: 75,729,335 (GRCm39)	L26P	probably damaging	Het
Dgkh	C	T	14: 78,825,067 (GRCm39)	A863T	probably damaging	Het
Dhx30	C	T	9: 109,913,666 (GRCm39)	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,324,037 (GRCm39)	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,328,805 (GRCm39)	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,687,471 (GRCm39)	N156I	probably benign	Het
Dpep1	A	T	8: 123,927,394 (GRCm39)	E316V	probably damaging	Het
Entrep1	A	T	19: 23,962,193 (GRCm39)	M270K	probably benign	Het
F2rl2	T	A	13: 95,837,617 (GRCm39)	F221I	probably benign	Het
Flg2	T	A	3: 93,127,668 (GRCm39)	D173E	probably benign	Het
Fshr	A	T	17: 89,293,414 (GRCm39)	D421E	probably damaging	Het
Gfm2	T	A	13: 97,309,131 (GRCm39)	V612E	probably benign	Het
Gm17655	T	G	5: 110,195,439 (GRCm39)	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,281,183 (GRCm39)		probably benign	Het
Gpr142	A	T	11: 114,697,203 (GRCm39)	I250F	probably damaging	Het
Hexa	A	G	9: 59,470,519 (GRCm39)	Q447R	probably damaging	Het
Leng8	T	C	7: 4,148,568 (GRCm39)	L780P	probably benign	Het
Lrrk1	T	C	7: 65,911,881 (GRCm39)	D1893G	probably benign	Het
Macf1	T	A	4: 123,407,641 (GRCm39)	I139F	probably damaging	Het
Megf10	A	T	18: 57,313,621 (GRCm39)	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549 (GRCm39)		noncoding transcript	Het
Myh13	A	T	11: 67,255,556 (GRCm39)	E1642V	probably damaging	Het
Myof	A	G	19: 37,913,068 (GRCm39)	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,353,748 (GRCm39)	D1765V	probably damaging	Het
Npy5r	A	T	8: 67,134,675 (GRCm39)	N39K	possibly damaging	Het
Or5m13b	G	A	2: 85,753,735 (GRCm39)	G41D	probably damaging	Het
Pax6	A	G	2: 105,514,247 (GRCm39)	I29V	probably damaging	Het
Pi4ka	A	G	16: 17,178,436 (GRCm39)	Y307H	probably benign	Het
Pmf1	A	C	3: 88,303,358 (GRCm39)	Y68D	probably damaging	Het
Psen2	C	A	1: 180,073,292 (GRCm39)	E10*	probably null	Het
Ptprs	T	A	17: 56,726,080 (GRCm39)	M991L	probably benign	Het
R3hdm4	A	G	10: 79,749,495 (GRCm39)	V20A	possibly damaging	Het
Rad17	T	C	13: 100,754,274 (GRCm39)	N649D	probably benign	Het
Rad9b	A	T	5: 122,489,415 (GRCm39)	C38S	probably damaging	Het
Rapgef2	T	C	3: 78,976,469 (GRCm39)	M1296V	probably benign	Het
Rbp3	T	C	14: 33,678,439 (GRCm39)	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,256,082 (GRCm39)	S54P	probably benign	Het
Sclt1	T	A	3: 41,581,612 (GRCm39)	I688F	probably damaging	Het
Scn10a	A	G	9: 119,438,535 (GRCm39)	I1778T	probably damaging	Het
Scrib	C	T	15: 75,939,021 (GRCm39)	R159Q	possibly damaging	Het
Senp1	C	T	15: 97,956,097 (GRCm39)	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,389,024 (GRCm39)	F417I	probably damaging	Het
Slco1a7	A	C	6: 141,684,764 (GRCm39)	D230E	probably benign	Het
Smcr8	A	G	11: 60,670,394 (GRCm39)	D514G	probably damaging	Het
Tbc1d23	T	G	16: 56,993,513 (GRCm39)	D551A	probably benign	Het
Tet1	G	T	10: 62,649,152 (GRCm39)	T149N	probably damaging	Het
Them4	A	T	3: 94,224,806 (GRCm39)	D61V	possibly damaging	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trank1	A	G	9: 111,206,864 (GRCm39)	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,106,604 (GRCm39)	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,821,231 (GRCm39)	R575G	probably benign	Het
Zfp941	A	T	7: 140,392,158 (GRCm39)	C400*	probably null	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	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
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
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'- TTGGGACCTCAGAAGTGTAGAG -3'
(R):5'- TGTCCTGCAGACCTTTAAGG -3'

Sequencing Primer
(F):5'- ACCTCAGAAGTGTAGAGTGTTTAG -3'
(R):5'- CAATGTGAAATGACCACTGCG -3'

Posted On

2017-07-14