Mutagenetix > Incidental Mutation

Incidental Mutation 'R4881:Exosc4'

375302

Institutional Source

Beutler Lab

Gene Symbol

Exosc4

Ensembl Gene

ENSMUSG00000034259

Gene Name

exosome component 4

Synonyms

1500001N04Rik, 1110039I09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4881 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

76211597-76214870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76213770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 198 (L198P)

Ref Sequence

ENSEMBL: ENSMUSP00000050940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000165279] [ENSMUST00000172281] [ENSMUST00000170121] [ENSMUST00000169378] [ENSMUST00000230512]

AlphaFold

Q921I9

Predicted Effect

probably benign
Transcript: ENSMUST00000023221

SMART Domains

Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	68	81	N/A	INTRINSIC
Pfam:Gaa1	125	615	3.8e-155	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000059045
AA Change: L198P

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

SMART Domains

Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259
AA Change: L198P

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	21	152	5.1e-37	PFAM
Pfam:RNase_PH_C	155	220	1.9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164680

Predicted Effect

probably benign
Transcript: ENSMUST00000164972

SMART Domains

Protein: ENSMUSP00000127108
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165179

Predicted Effect

probably benign
Transcript: ENSMUST00000165279

SMART Domains

Protein: ENSMUSP00000127955
Gene: ENSMUSG00000022562

Domain	Start	End	E-Value	Type
Pfam:Hydant_A_N	9	53	8.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171005

Predicted Effect

probably benign
Transcript: ENSMUST00000172281

SMART Domains

Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Gaa1	64	560	3e-205	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168948

SMART Domains

Protein: ENSMUSP00000126326
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
Pfam:Gaa1	1	129	1.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170121

SMART Domains

Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230683

Predicted Effect

probably benign
Transcript: ENSMUST00000169378

SMART Domains

Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230818

Meta Mutation Damage Score

0.8603

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,877,472 (GRCm39)	L1040P	possibly damaging	Het
Acot11	C	A	4: 106,612,502 (GRCm39)		probably null	Het
Aldoart2	C	A	12: 55,612,899 (GRCm39)	Q275K	probably damaging	Het
Auts2	T	C	5: 131,501,288 (GRCm39)	T42A	probably damaging	Het
Bora	C	T	14: 99,299,003 (GRCm39)	L187F	probably damaging	Het
Cbln4	A	G	2: 171,884,059 (GRCm39)	S54P	possibly damaging	Het
Celsr3	T	A	9: 108,721,140 (GRCm39)	L2661Q	probably damaging	Het
Cfap65	T	C	1: 74,946,772 (GRCm39)	T1313A	probably damaging	Het
Dbndd2	C	A	2: 164,332,225 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,746,126 (GRCm39)	D4G	possibly damaging	Het
Dmxl1	T	A	18: 50,090,348 (GRCm39)		probably benign	Het
Dnah7b	T	C	1: 46,240,478 (GRCm39)	C1532R	probably damaging	Het
Erbb3	A	T	10: 128,412,816 (GRCm39)	H591Q	probably benign	Het
F2r	A	T	13: 95,754,837 (GRCm39)	C16S	possibly damaging	Het
Gtf2h4	A	T	17: 35,981,125 (GRCm39)	I234N	possibly damaging	Het
Ift27	A	T	15: 78,049,448 (GRCm39)	V84D	probably damaging	Het
Ints10	C	T	8: 69,263,256 (GRCm39)	A389V	probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Klrc2	T	A	6: 129,637,471 (GRCm39)	T17S	possibly damaging	Het
Matr3	T	A	18: 35,705,428 (GRCm39)	S118T	probably damaging	Het
Mfsd6l	C	T	11: 68,448,748 (GRCm39)	A533V	probably benign	Het
Msh3	A	G	13: 92,402,549 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,191,434 (GRCm39)	M1103V	probably benign	Het
Niban2	C	A	2: 32,812,590 (GRCm39)	Y446*	probably null	Het
Or2y1e	T	A	11: 49,219,124 (GRCm39)	D295E	probably benign	Het
Or5e1	T	C	7: 108,354,612 (GRCm39)	L183P	probably damaging	Het
Or6z3	A	T	7: 6,463,753 (GRCm39)	M82L	probably benign	Het
Osbpl3	A	T	6: 50,329,764 (GRCm39)	D88E	possibly damaging	Het
Pou1f1	C	T	16: 65,328,728 (GRCm39)	T149I	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pstpip2	T	A	18: 77,962,032 (GRCm39)	Y267*	probably null	Het
Rcor1	A	G	12: 111,063,986 (GRCm39)	D95G	probably damaging	Het
Rttn	T	C	18: 89,119,809 (GRCm39)	L1748P	probably damaging	Het
Slco2a1	A	G	9: 102,963,031 (GRCm39)	K629E	possibly damaging	Het
Smarcc1	A	G	9: 109,964,696 (GRCm39)		probably benign	Het
Son	A	G	16: 91,472,397 (GRCm39)	K360E	probably benign	Het
Stab1	A	T	14: 30,865,629 (GRCm39)	M1753K	probably benign	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tmem63c	A	T	12: 87,133,192 (GRCm39)	T736S	possibly damaging	Het
Tmpo	G	A	10: 90,998,503 (GRCm39)	P428L	possibly damaging	Het
Tmprss11a	G	T	5: 86,570,432 (GRCm39)	Q176K	probably damaging	Het
Trappc4	A	G	9: 44,315,322 (GRCm39)	S219P	probably damaging	Het
Vmn2r117	G	T	17: 23,696,859 (GRCm39)	P183T	probably damaging	Het
Vmn2r54	C	T	7: 12,363,598 (GRCm39)	V432I	probably benign	Het
Vtcn1	G	A	3: 100,799,909 (GRCm39)	G257R	probably benign	Het
Yipf1	T	A	4: 107,202,288 (GRCm39)	M217K	possibly damaging	Het
Zfc3h1	T	C	10: 115,236,647 (GRCm39)	S374P	probably benign	Het
Zfp407	T	C	18: 84,577,828 (GRCm39)	H1095R	probably benign	Het
Zfp661	A	T	2: 127,420,564 (GRCm39)	H78Q	probably benign	Het
Zfp957	T	C	14: 79,450,849 (GRCm39)	T317A	unknown	Het
Zfyve9	T	A	4: 108,584,688 (GRCm39)		probably null	Het

Other mutations in Exosc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Exosc4	APN	15	76,213,836 (GRCm39)	missense	probably damaging	1.00
R0499:Exosc4	UTSW	15	76,213,766 (GRCm39)	missense	probably benign	0.01
R0622:Exosc4	UTSW	15	76,211,736 (GRCm39)	missense	probably damaging	1.00
R0718:Exosc4	UTSW	15	76,213,689 (GRCm39)	missense	probably benign	0.01
R0733:Exosc4	UTSW	15	76,213,616 (GRCm39)	missense	probably benign
R0930:Exosc4	UTSW	15	76,211,734 (GRCm39)	missense	probably benign	0.13
R6560:Exosc4	UTSW	15	76,211,813 (GRCm39)	missense	probably benign	0.00
R8247:Exosc4	UTSW	15	76,213,279 (GRCm39)	missense	probably damaging	0.99
R8269:Exosc4	UTSW	15	76,211,732 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCAGATGGTGGGACCTAC -3'
(R):5'- GTACAGTAAGGTGTACTCGGG -3'

Sequencing Primer
(F):5'- CCTACGCAGCATGTGTGAATG -3'
(R):5'- GAAGAACAGGCCTTTATTCTGG -3'

Posted On

2016-03-17