Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01812:Dis3l'

154293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dis3l

Ensembl Gene

ENSMUSG00000032396

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

IGL01812

Quality Score

Status

Chromosome

Chromosomal Location

64214038-64248570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64217519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 822 (E822V)

Ref Sequence

ENSEMBL: ENSMUSP00000129772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000168844] [ENSMUST00000216594]

AlphaFold

Q8C0S1

Predicted Effect

probably benign
Transcript: ENSMUST00000068367
AA Change: E739V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: E739V

Domain	Start	End	E-Value	Type
low complexity region	125	137	N/A	INTRINSIC
RNB	382	734	4.82e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113890
AA Change: E739V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: E739V

Domain	Start	End	E-Value	Type
low complexity region	125	137	N/A	INTRINSIC
RNB	382	734	4.82e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120760
AA Change: E739V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: E739V

Domain	Start	End	E-Value	Type
low complexity region	125	137	N/A	INTRINSIC
RNB	382	734	4.82e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168844
AA Change: E822V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: E822V

Domain	Start	End	E-Value	Type
low complexity region	208	220	N/A	INTRINSIC
RNB	465	817	4.82e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000216594

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,749,950 (GRCm39)	Y1456C	probably damaging	Het
Apobr	A	G	7: 126,187,094 (GRCm39)	D840G	probably damaging	Het
Arb2a	T	A	13: 77,909,966 (GRCm39)	L27*	probably null	Het
Cd300lf	T	C	11: 115,011,114 (GRCm39)	R175G	probably damaging	Het
Chil5	A	G	3: 105,924,468 (GRCm39)	S426P	possibly damaging	Het
Cngb3	T	G	4: 19,461,728 (GRCm39)	I536M	possibly damaging	Het
Cracdl	T	A	1: 37,664,446 (GRCm39)	D484V	probably benign	Het
Cyp4f15	G	A	17: 32,905,131 (GRCm39)	R38H	probably benign	Het
Ddb1	A	C	19: 10,590,382 (GRCm39)	E303A	probably damaging	Het
Erich3	T	C	3: 154,419,608 (GRCm39)	V234A	possibly damaging	Het
Evi5l	T	C	8: 4,243,219 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,734,894 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,242,007 (GRCm39)	I62V	probably benign	Het
Itpkb	T	C	1: 180,247,851 (GRCm39)	F823S	probably damaging	Het
Izumo2	A	G	7: 44,358,519 (GRCm39)	N14S	possibly damaging	Het
Matcap1	C	T	8: 106,011,289 (GRCm39)		probably benign	Het
Nbas	T	C	12: 13,503,504 (GRCm39)	C1545R	probably damaging	Het
Or4c108	A	T	2: 88,803,868 (GRCm39)	Y122*	probably null	Het
Pds5b	A	T	5: 150,704,154 (GRCm39)	R852S	probably damaging	Het
Polh	G	A	17: 46,483,837 (GRCm39)	A476V	probably benign	Het
Prune2	T	A	19: 16,981,141 (GRCm39)	D99E	possibly damaging	Het
Tdrd6	A	G	17: 43,936,065 (GRCm39)	V1661A	probably benign	Het
Tor1aip2	A	G	1: 155,935,285 (GRCm39)	S7G	probably benign	Het
Vps13a	A	G	19: 16,692,424 (GRCm39)	V830A	probably benign	Het
Vps39	G	A	2: 120,151,271 (GRCm39)		probably benign	Het
Zdhhc17	T	A	10: 110,784,078 (GRCm39)	H466L	possibly damaging	Het

Other mutations in Dis3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Dis3l	APN	9	64,226,536 (GRCm39)	critical splice acceptor site	probably null
IGL01838:Dis3l	APN	9	64,215,581 (GRCm39)	missense	probably benign	0.41
IGL02104:Dis3l	APN	9	64,217,611 (GRCm39)	missense	possibly damaging	0.61
IGL02478:Dis3l	APN	9	64,222,055 (GRCm39)	missense	probably benign	0.00
IGL02481:Dis3l	APN	9	64,226,362 (GRCm39)	splice site	probably null
IGL02483:Dis3l	APN	9	64,226,362 (GRCm39)	splice site	probably null
IGL02965:Dis3l	APN	9	64,217,766 (GRCm39)	missense	probably damaging	0.99
IGL03139:Dis3l	APN	9	64,219,232 (GRCm39)	missense	probably damaging	0.99
IGL03054:Dis3l	UTSW	9	64,217,722 (GRCm39)	critical splice donor site	probably null
R0066:Dis3l	UTSW	9	64,226,447 (GRCm39)	missense	probably benign	0.27
R0066:Dis3l	UTSW	9	64,226,447 (GRCm39)	missense	probably benign	0.27
R0724:Dis3l	UTSW	9	64,214,408 (GRCm39)	missense	possibly damaging	0.92
R0801:Dis3l	UTSW	9	64,226,436 (GRCm39)	missense	probably benign
R0925:Dis3l	UTSW	9	64,248,412 (GRCm39)	start codon destroyed	probably null	0.97
R1502:Dis3l	UTSW	9	64,233,069 (GRCm39)	missense	possibly damaging	0.68
R1541:Dis3l	UTSW	9	64,214,771 (GRCm39)	missense	probably benign	0.07
R1794:Dis3l	UTSW	9	64,225,058 (GRCm39)	missense	possibly damaging	0.67
R1929:Dis3l	UTSW	9	64,238,165 (GRCm39)	missense	probably damaging	0.96
R2007:Dis3l	UTSW	9	64,215,558 (GRCm39)	splice site	probably null
R2062:Dis3l	UTSW	9	64,246,855 (GRCm39)	missense	probably benign	0.02
R2152:Dis3l	UTSW	9	64,214,545 (GRCm39)	missense	probably benign	0.00
R2153:Dis3l	UTSW	9	64,214,545 (GRCm39)	missense	probably benign	0.00
R2154:Dis3l	UTSW	9	64,214,545 (GRCm39)	missense	probably benign	0.00
R2186:Dis3l	UTSW	9	64,246,894 (GRCm39)	nonsense	probably null
R2271:Dis3l	UTSW	9	64,238,165 (GRCm39)	missense	probably damaging	0.96
R2280:Dis3l	UTSW	9	64,225,076 (GRCm39)	missense	possibly damaging	0.70
R2287:Dis3l	UTSW	9	64,214,779 (GRCm39)	missense	probably benign	0.20
R3156:Dis3l	UTSW	9	64,219,032 (GRCm39)	missense	probably benign	0.25
R4664:Dis3l	UTSW	9	64,238,080 (GRCm39)	missense	unknown
R4775:Dis3l	UTSW	9	64,238,190 (GRCm39)	missense	probably benign	0.16
R4977:Dis3l	UTSW	9	64,214,483 (GRCm39)	missense	probably benign	0.00
R4997:Dis3l	UTSW	9	64,219,224 (GRCm39)	missense	possibly damaging	0.76
R5097:Dis3l	UTSW	9	64,226,498 (GRCm39)	missense	probably damaging	1.00
R5579:Dis3l	UTSW	9	64,238,117 (GRCm39)	missense	probably benign	0.44
R5623:Dis3l	UTSW	9	64,214,885 (GRCm39)	missense	possibly damaging	0.70
R6310:Dis3l	UTSW	9	64,229,857 (GRCm39)	missense	probably benign	0.00
R6442:Dis3l	UTSW	9	64,214,837 (GRCm39)	missense	probably benign
R6505:Dis3l	UTSW	9	64,214,795 (GRCm39)	missense	probably benign	0.15
R6731:Dis3l	UTSW	9	64,217,720 (GRCm39)	splice site	probably null
R7008:Dis3l	UTSW	9	64,217,735 (GRCm39)	missense	possibly damaging	0.96
R7405:Dis3l	UTSW	9	64,221,986 (GRCm39)	missense	probably damaging	1.00
R7555:Dis3l	UTSW	9	64,219,219 (GRCm39)	nonsense	probably null
R7798:Dis3l	UTSW	9	64,248,299 (GRCm39)	missense	probably benign
R7890:Dis3l	UTSW	9	64,229,753 (GRCm39)	missense	probably benign	0.00
R8329:Dis3l	UTSW	9	64,219,112 (GRCm39)	missense	possibly damaging	0.50
R8715:Dis3l	UTSW	9	64,214,342 (GRCm39)	missense	probably benign
R8942:Dis3l	UTSW	9	64,214,875 (GRCm39)	missense	probably benign	0.22
R8973:Dis3l	UTSW	9	64,246,824 (GRCm39)	missense	probably damaging	0.96
R9189:Dis3l	UTSW	9	64,217,731 (GRCm39)	missense	probably benign	0.21
R9240:Dis3l	UTSW	9	64,217,447 (GRCm39)	critical splice donor site	probably null
R9354:Dis3l	UTSW	9	64,221,922 (GRCm39)	missense	probably benign	0.01
R9394:Dis3l	UTSW	9	64,225,017 (GRCm39)	missense	probably benign	0.24
R9569:Dis3l	UTSW	9	64,236,829 (GRCm39)	missense	unknown
X0020:Dis3l	UTSW	9	64,233,016 (GRCm39)	missense	probably damaging	1.00
X0065:Dis3l	UTSW	9	64,214,336 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04