Mutagenetix > Incidental Mutation

Incidental Mutation 'R6560:Exosc4'

522040

Institutional Source

Beutler Lab

Gene Symbol

Exosc4

Ensembl Gene

ENSMUSG00000034259

Gene Name

exosome component 4

Synonyms

1500001N04Rik, 1110039I09Rik

MMRRC Submission

044684-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R6560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76211597-76214870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76211813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 41 (I41V)

Ref Sequence

ENSEMBL: ENSMUSP00000155254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000165279] [ENSMUST00000230512] [ENSMUST00000170121] [ENSMUST00000169378] [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: I41V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259
AA Change: I41V

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

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

probably benign
Transcript: ENSMUST00000230512
AA Change: I41V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

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: ENSMUST00000169378

SMART Domains

Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230818

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,843,230 (GRCm39)	L1235Q	probably damaging	Het
Acin1	T	C	14: 54,916,290 (GRCm39)	T174A	probably benign	Het
Adamtsl1	G	A	4: 86,255,130 (GRCm39)	R733H	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Arsk	A	T	13: 76,223,105 (GRCm39)	I164N	probably benign	Het
Bbs5	T	A	2: 69,487,300 (GRCm39)	N194K	probably damaging	Het
Bicra	T	C	7: 15,723,119 (GRCm39)	T133A	possibly damaging	Het
Card6	G	A	15: 5,128,367 (GRCm39)	P1010S	probably damaging	Het
Ccdc18	T	A	5: 108,339,790 (GRCm39)	N778K	probably benign	Het
Cept1	T	C	3: 106,412,594 (GRCm39)	I240V	possibly damaging	Het
Crip3	A	G	17: 46,741,962 (GRCm39)	R150G	probably damaging	Het
Cyp2c50	A	G	19: 40,085,299 (GRCm39)	T320A	probably benign	Het
Dio2	G	C	12: 90,696,607 (GRCm39)	S127*	probably null	Het
Dnai3	T	C	3: 145,801,161 (GRCm39)	E99G	possibly damaging	Het
Dscam	T	C	16: 96,626,935 (GRCm39)	S325G	probably benign	Het
Glb1l3	C	T	9: 26,739,720 (GRCm39)		probably null	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm3072	T	A	14: 41,345,510 (GRCm39)	D89V	unknown	Het
Gosr2	T	C	11: 103,577,508 (GRCm39)	H79R	probably damaging	Het
Has2	T	A	15: 56,531,660 (GRCm39)	T352S	probably damaging	Het
Insig1	T	A	5: 28,276,531 (GRCm39)	C32*	probably null	Het
Klf9	A	G	19: 23,119,314 (GRCm39)	S66G	probably damaging	Het
Mfn1	T	C	3: 32,623,665 (GRCm39)	I263T	probably damaging	Het
Myl2	G	A	5: 122,240,834 (GRCm39)	G38R	probably null	Het
Negr1	A	G	3: 157,018,494 (GRCm39)	T332A	probably benign	Het
Neo1	A	G	9: 58,787,884 (GRCm39)	S1417P	possibly damaging	Het
Or52ab4	T	C	7: 102,987,945 (GRCm39)	F228S	probably benign	Het
Or7e168	G	A	9: 19,720,412 (GRCm39)	S266N	probably benign	Het
Pcgf3	C	A	5: 108,621,768 (GRCm39)	H35Q	probably damaging	Het
Plppr5	A	G	3: 117,465,639 (GRCm39)	I297V	probably benign	Het
Plxna4	C	T	6: 32,192,613 (GRCm39)	V783M	probably damaging	Het
Prx	A	T	7: 27,214,746 (GRCm39)	Q85H	probably damaging	Het
Tex14	T	G	11: 87,388,688 (GRCm39)	M305R	possibly damaging	Het
Ythdc1	T	C	5: 86,964,467 (GRCm39)	V92A	probably benign	Het
Zfp619	G	A	7: 39,186,954 (GRCm39)	E995K	probably damaging	Het
Zfp90	A	G	8: 107,142,379 (GRCm39)	R4G	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
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'- AAGTCGTAGTCCTGAAGGTCCAG -3'
(R):5'- ATCCCCGCTACAACACGTTG -3'

Sequencing Primer
(F):5'- AAGGTCCAGGTCGAGCTGTC -3'
(R):5'- ACAACCTGTGTGAGATGCTTTC -3'

Posted On

2018-06-06