Mutagenetix > Incidental Mutation

Incidental Mutation 'R5251:Exosc5'

399038

Institutional Source

Beutler Lab

Gene Symbol

Exosc5

Ensembl Gene

ENSMUSG00000061286

Gene Name

exosome component 5

Synonyms

D7Wsu180e

MMRRC Submission

042822-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R5251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25358578-25367457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25367180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 224 (Y224C)

Ref Sequence

ENSEMBL: ENSMUSP00000145948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079439] [ENSMUST00000079634] [ENSMUST00000108404] [ENSMUST00000108405] [ENSMUST00000206561] [ENSMUST00000205743] [ENSMUST00000205966]

AlphaFold

Q9CRA8

Predicted Effect

probably benign
Transcript: ENSMUST00000079439

SMART Domains

Protein: ENSMUSP00000078407
Gene: ENSMUSG00000061702

Domain	Start	End	E-Value	Type
low complexity region	74	85	N/A	INTRINSIC
Pfam:CD225	86	158	2.9e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079634
AA Change: Y224C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078580
Gene: ENSMUSG00000061286
AA Change: Y224C

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	27	147	1.3e-25	PFAM
Pfam:RNase_PH_C	150	216	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108404

SMART Domains

Protein: ENSMUSP00000104041
Gene: ENSMUSG00000061702

Domain	Start	End	E-Value	Type
Pfam:Dispanin	82	121	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108405

SMART Domains

Protein: ENSMUSP00000104042
Gene: ENSMUSG00000061702

Domain	Start	End	E-Value	Type
Pfam:Dispanin	82	134	6.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150306

Predicted Effect

probably benign
Transcript: ENSMUST00000150883

SMART Domains

Protein: ENSMUSP00000115089
Gene: ENSMUSG00000061702

Domain	Start	End	E-Value	Type
Pfam:CD225	32	68	5e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206561
AA Change: Y224C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205275

Predicted Effect

probably benign
Transcript: ENSMUST00000205743

Predicted Effect

probably benign
Transcript: ENSMUST00000205966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205614

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,108,236 (GRCm39)	E194V	probably damaging	Het
Ankrd16	T	A	2: 11,783,552 (GRCm39)	D51E	probably damaging	Het
Arhgef5	A	G	6: 43,249,815 (GRCm39)	T189A	possibly damaging	Het
Camk4	A	G	18: 33,317,932 (GRCm39)	D363G	probably benign	Het
Camta1	A	G	4: 151,248,341 (GRCm39)	I199T	probably damaging	Het
Ccdc141	C	T	2: 76,858,118 (GRCm39)	C1021Y	probably damaging	Het
Cdc34	C	T	10: 79,521,090 (GRCm39)	S129L	probably damaging	Het
Cenph	T	A	13: 100,898,348 (GRCm39)	N185I	possibly damaging	Het
Colq	A	G	14: 31,261,776 (GRCm39)		probably null	Het
Dph2	A	T	4: 117,747,543 (GRCm39)	D280E	probably damaging	Het
Fgfr3	C	T	5: 33,892,900 (GRCm39)		probably benign	Het
Hs3st6	T	A	17: 24,976,959 (GRCm39)	D146E	probably benign	Het
Igkv13-84	A	T	6: 68,916,772 (GRCm39)	Q23L	probably benign	Het
Macf1	A	G	4: 123,343,760 (GRCm39)	V2154A	probably benign	Het
Man1a2	T	C	3: 100,527,415 (GRCm39)	E225G	probably damaging	Het
Mertk	T	C	2: 128,571,375 (GRCm39)	S110P	probably damaging	Het
Nav3	A	G	10: 109,689,114 (GRCm39)	F388L	probably damaging	Het
Nme8	T	C	13: 19,844,795 (GRCm39)	N98S	probably benign	Het
Nup205	A	G	6: 35,173,417 (GRCm39)		probably null	Het
Prl7d1	T	C	13: 27,893,227 (GRCm39)	N228S	probably benign	Het
Prss23	T	C	7: 89,159,530 (GRCm39)	K180E	probably damaging	Het
Psap	G	A	10: 60,137,479 (GRCm39)	D549N	probably damaging	Het
Sec16a	A	G	2: 26,329,357 (GRCm39)	V886A	probably benign	Het
Sh2d1b2	A	T	1: 170,077,642 (GRCm39)	E81D	probably benign	Het
Tbx6	A	T	7: 126,382,516 (GRCm39)	N254I	probably damaging	Het
Tchhl1	T	C	3: 93,377,860 (GRCm39)	V188A	possibly damaging	Het
Trpc3	A	T	3: 36,725,103 (GRCm39)	L291Q	probably damaging	Het
Zbtb38	G	T	9: 96,569,161 (GRCm39)	T641N	probably benign	Het

Other mutations in Exosc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02582:Exosc5	APN	7	25,364,988 (GRCm39)	critical splice donor site	probably null
IGL02730:Exosc5	APN	7	25,362,622 (GRCm39)	missense	possibly damaging	0.92
R2267:Exosc5	UTSW	7	25,363,809 (GRCm39)	missense	possibly damaging	0.89
R7175:Exosc5	UTSW	7	25,363,794 (GRCm39)	missense	probably damaging	0.96
R7297:Exosc5	UTSW	7	25,365,751 (GRCm39)	missense	probably benign	0.00
R7448:Exosc5	UTSW	7	25,358,734 (GRCm39)	missense	probably benign
R8188:Exosc5	UTSW	7	25,358,790 (GRCm39)	missense	probably damaging	1.00
R8190:Exosc5	UTSW	7	25,365,769 (GRCm39)	critical splice donor site	probably null
R8922:Exosc5	UTSW	7	25,363,673 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCGTGACATTGTCTCATTGTG -3'
(R):5'- CAGGCCTAGAATGTCCCTAAGC -3'

Sequencing Primer
(F):5'- ACATTGTCTCATTGTGGGGTG -3'
(R):5'- TAGAATGTCCCTAAGCCCCCAC -3'

Posted On

2016-07-06