Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02730:Exosc5'

305429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exosc5

Ensembl Gene

ENSMUSG00000061286

Gene Name

exosome component 5

Synonyms

D7Wsu180e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02730

Quality Score

Status

Chromosome

Chromosomal Location

25358578-25367457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25362622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 70 (I70T)

Ref Sequence

ENSEMBL: ENSMUSP00000145921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000079634] [ENSMUST00000205743] [ENSMUST00000205966] [ENSMUST00000206561]

AlphaFold

Q9CRA8

Predicted Effect

probably benign
Transcript: ENSMUST00000071329

SMART Domains

Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
Pfam:E1_dh	107	407	2.9e-117	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079634
AA Change: I70T

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078580
Gene: ENSMUSG00000061286
AA Change: I70T

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

noncoding transcript
Transcript: ENSMUST00000205275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205614

Predicted Effect

probably benign
Transcript: ENSMUST00000205743

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205966
AA Change: I70T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206561
AA Change: I70T

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,304,210 (GRCm39)		probably benign	Het
Ankib1	A	T	5: 3,752,995 (GRCm39)	V651E	probably damaging	Het
BC051665	G	A	13: 60,932,826 (GRCm39)		probably benign	Het
Ces1d	C	T	8: 93,912,644 (GRCm39)	G265S	probably benign	Het
Dsg1c	A	C	18: 20,407,887 (GRCm39)	D411A	probably damaging	Het
Fgf20	T	A	8: 40,732,828 (GRCm39)	L203F	probably damaging	Het
Gpsm1	T	A	2: 26,215,390 (GRCm39)	V316E	probably benign	Het
Gtpbp1	T	A	15: 79,603,372 (GRCm39)	D620E	probably benign	Het
Hs6st1	A	G	1: 36,142,709 (GRCm39)	T215A	probably damaging	Het
Irgm2	T	A	11: 58,110,816 (GRCm39)	M169K	probably benign	Het
Kcns3	A	G	12: 11,142,076 (GRCm39)	S208P	probably benign	Het
Klra6	T	C	6: 129,999,660 (GRCm39)	T103A	probably benign	Het
Lrba	T	A	3: 86,235,506 (GRCm39)	M870K	probably damaging	Het
Mapk1ip1l	C	T	14: 47,548,377 (GRCm39)	T175I	possibly damaging	Het
Meig1	A	G	2: 3,412,947 (GRCm39)	Y25H	probably damaging	Het
Msh2	T	C	17: 88,014,643 (GRCm39)	F474L	probably damaging	Het
Nlrp4b	T	C	7: 10,448,685 (GRCm39)	F296S	probably damaging	Het
Or10d1b	C	T	9: 39,613,534 (GRCm39)	C177Y	probably damaging	Het
Or12d17	T	A	17: 37,777,750 (GRCm39)	Y218N	probably damaging	Het
Or14c40	T	C	7: 86,313,275 (GRCm39)	L135P	probably damaging	Het
Or2m12	T	A	16: 19,105,432 (GRCm39)	L20F	probably benign	Het
Or5al6	C	T	2: 85,976,443 (GRCm39)	V212M	probably benign	Het
Or5w15	T	A	2: 87,567,985 (GRCm39)	I228F	probably damaging	Het
Or6z3	T	C	7: 6,464,123 (GRCm39)	I205T	possibly damaging	Het
Or8s8	A	G	15: 98,354,317 (GRCm39)	N42S	probably damaging	Het
Pds5b	A	G	5: 150,704,217 (GRCm39)		probably benign	Het
Plekhg1	A	G	10: 3,823,242 (GRCm39)	D70G	possibly damaging	Het
Rubcnl	C	T	14: 75,287,588 (GRCm39)	T624M	probably damaging	Het
Runx1t1	C	T	4: 13,860,019 (GRCm39)	H317Y	probably benign	Het
Sec22a	T	C	16: 35,134,470 (GRCm39)	D282G	probably damaging	Het
Serpina3a	T	C	12: 104,085,922 (GRCm39)	F126L	probably damaging	Het
Serpinc1	A	G	1: 160,827,598 (GRCm39)	D399G	probably damaging	Het
Sorcs2	A	G	5: 36,219,896 (GRCm39)	Y383H	probably benign	Het
Speer3	T	A	5: 13,843,285 (GRCm39)	M64K	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stx1b	C	A	7: 127,414,549 (GRCm39)	R25L	probably benign	Het
Syt5	A	G	7: 4,545,356 (GRCm39)	V181A	probably damaging	Het
Tspoap1	G	T	11: 87,672,535 (GRCm39)	V1788F	probably damaging	Het
Vinac1	T	C	2: 128,880,646 (GRCm39)	T427A	possibly damaging	Het
Vmn1r233	A	G	17: 21,214,057 (GRCm39)	S298P	possibly damaging	Het
Xntrpc	T	C	7: 101,731,319 (GRCm39)	S353P	probably damaging	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
R2267:Exosc5	UTSW	7	25,363,809 (GRCm39)	missense	possibly damaging	0.89
R5251:Exosc5	UTSW	7	25,367,180 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16