Mutagenetix > Incidental Mutation

Incidental Mutation 'R8269:Exosc4'

639512

Institutional Source

Beutler Lab

Gene Symbol

Exosc4

Ensembl Gene

ENSMUSG00000034259

Gene Name

exosome component 4

Synonyms

1500001N04Rik, 1110039I09Rik

MMRRC Submission

067693-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R8269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76211597-76214870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76211732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 14 (I14L)

Ref Sequence

ENSEMBL: ENSMUSP00000050940 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000059045
AA Change: I14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259
AA Change: I14L

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

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

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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,246,325 (GRCm38)	T489A	probably benign	Het
Adgra3	A	T	5: 50,121,079 (GRCm39)	C850S	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Akap11	G	A	14: 78,750,818 (GRCm39)	T523I		Het
Amigo2	G	T	15: 97,144,112 (GRCm39)	N103K	possibly damaging	Het
Arfgap3	A	C	15: 83,194,542 (GRCm39)	S377A	probably benign	Het
Arhgap39	G	T	15: 76,635,942 (GRCm39)	Q98K	probably benign	Het
Atp1a4	T	C	1: 172,059,892 (GRCm39)	D779G	probably damaging	Het
Bckdhb	T	C	9: 84,004,417 (GRCm39)	I388T	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cd109	A	G	9: 78,572,964 (GRCm39)	K496R	probably benign	Het
Cnot1	A	G	8: 96,478,389 (GRCm39)	F979L	probably damaging	Het
Cyb5r1	T	A	1: 134,334,803 (GRCm39)		probably benign	Het
D130040H23Rik	T	A	8: 69,755,800 (GRCm39)	S402T	probably benign	Het
Dmtf1	A	T	5: 9,182,500 (GRCm39)	Y211*	probably null	Het
Dnah6	A	G	6: 73,145,810 (GRCm39)		probably null	Het
Emc10	G	T	7: 44,141,408 (GRCm39)	Q227K	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fat2	T	C	11: 55,173,535 (GRCm39)	T2393A	possibly damaging	Het
Flg2	A	T	3: 93,109,187 (GRCm39)	H405L	possibly damaging	Het
Gin1	T	A	1: 97,710,929 (GRCm39)	M204K	probably damaging	Het
Gm57858	A	T	3: 36,100,862 (GRCm39)	N103K	possibly damaging	Het
Gnal	A	G	18: 67,268,693 (GRCm39)	D193G	possibly damaging	Het
Itpr3	G	T	17: 27,312,258 (GRCm39)	R554L	possibly damaging	Het
Lipc	A	G	9: 70,727,655 (GRCm39)	L149P	probably damaging	Het
Lrrc37a	A	G	11: 103,388,724 (GRCm39)	Y2234H	unknown	Het
Lsm14b	T	C	2: 179,674,407 (GRCm39)	S317P	probably damaging	Het
Mapk4	G	C	18: 74,063,622 (GRCm39)	F533L	probably damaging	Het
Mgll	T	A	6: 88,790,930 (GRCm39)	Y183*	probably null	Het
Mrrf	T	A	2: 36,037,973 (GRCm39)	D81E	possibly damaging	Het
Ncan	T	A	8: 70,560,330 (GRCm39)	Q879L	probably benign	Het
Nox4	T	G	7: 86,955,930 (GRCm39)		probably benign	Het
Or4p18	A	T	2: 88,232,381 (GRCm39)	V299D	probably damaging	Het
Or5p67	A	T	7: 107,922,776 (GRCm39)	C36S	probably benign	Het
Pcdhb10	A	G	18: 37,547,062 (GRCm39)	K713E	probably benign	Het
Phkb	A	G	8: 86,756,211 (GRCm39)	D835G	probably benign	Het
Pld1	A	G	3: 28,079,388 (GRCm39)	N63D	probably benign	Het
Pls1	G	T	9: 95,644,023 (GRCm39)	T491K	probably damaging	Het
Plscr1	A	G	9: 92,145,095 (GRCm39)	D35G	unknown	Het
Slc28a2b	C	T	2: 122,352,169 (GRCm39)	H336Y	probably damaging	Het
Slc3a1	A	G	17: 85,339,982 (GRCm39)	K180R	probably benign	Het
Suv39h1	G	T	X: 7,937,270 (GRCm39)	Q129K	probably benign	Het
Tbc1d8	A	G	1: 39,465,169 (GRCm39)	V73A	probably benign	Het
Tmem161a	T	A	8: 70,634,608 (GRCm39)	V421E	probably benign	Het
Topbp1	C	A	9: 103,205,792 (GRCm39)	P810Q	possibly damaging	Het
Ttc28	G	A	5: 111,425,325 (GRCm39)	V1717M	probably benign	Het
Vmn2r55	T	A	7: 12,404,585 (GRCm39)	T273S	possibly damaging	Het
Vwa5b2	A	G	16: 20,423,188 (GRCm39)	D1062G	probably damaging	Het
Zcrb1	A	G	15: 93,295,056 (GRCm39)	Y27H	probably benign	Het
Zfp128	G	A	7: 12,624,663 (GRCm39)	G344R	probably damaging	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
R4881:Exosc4	UTSW	15	76,213,770 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TTCCCTTTGACCGGAAAGCG -3'
(R):5'- GTATACTGCTGCATGGGCTCAG -3'

Sequencing Primer
(F):5'- GACTAGGCTACCGGAAGCTATAGTTC -3'
(R):5'- AGTTAAGCCGTACGACTTAGGTCTC -3'

Posted On

2020-07-28