Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Exosc4'

185556

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exosc4

Ensembl Gene

ENSMUSG00000034259

Gene Name

exosome component 4

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

76327397-76330677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76329636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 220 (A220E)

Ref Sequence

ENSEMBL: ENSMUSP00000050940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000165279] [ENSMUST00000169378] [ENSMUST00000170121] [ENSMUST00000172281] [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: A220E

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

SMART Domains

Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259
AA Change: A220E

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: 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: 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: 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: 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

probably benign
Transcript: ENSMUST00000230512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230683

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Chrm4	A	G	2: 91,927,831	T195A	probably damaging	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Musk	A	G	4: 58,286,128	N6S	possibly damaging	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prdm1	A	G	10: 44,441,342	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc15a1	T	C	14: 121,462,499	I636V	possibly damaging	Het
Slc15a1	G	T	14: 121,462,474	P644H	probably benign	Het
Slc6a21	T	A	7: 45,286,459	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,507,675	L237*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	probably damaging	Het

Other mutations in Exosc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0499:Exosc4	UTSW	15	76329566	missense	probably benign	0.01
R0622:Exosc4	UTSW	15	76327536	missense	probably damaging	1.00
R0718:Exosc4	UTSW	15	76329489	missense	probably benign	0.01
R0733:Exosc4	UTSW	15	76329416	missense	probably benign
R0930:Exosc4	UTSW	15	76327534	missense	probably benign	0.13
R4881:Exosc4	UTSW	15	76329570	missense	probably damaging	1.00
R6560:Exosc4	UTSW	15	76327613	missense	probably benign	0.00
R8247:Exosc4	UTSW	15	76329079	missense	probably damaging	0.99
R8269:Exosc4	UTSW	15	76327532	missense	probably benign

Posted On

2014-05-07