Mutagenetix > Incidental Mutation

Incidental Mutation 'R2287:Dis3l'

244158

Institutional Source

Beutler Lab

Gene Symbol

Dis3l

Ensembl Gene

ENSMUSG00000032396

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

Synonyms

MMRRC Submission

040286-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R2287 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64214038-64248570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64214779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 930 (Q930L)

Ref Sequence

ENSEMBL: ENSMUSP00000129772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034964] [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000168844] [ENSMUST00000216594]

AlphaFold

Q8C0S1

Predicted Effect

probably benign
Transcript: ENSMUST00000034964

SMART Domains

Protein: ENSMUSP00000034964
Gene: ENSMUSG00000032397

Domain	Start	End	E-Value	Type
low complexity region	19	43	N/A	INTRINSIC
Pfam:Swi3	63	143	2.8e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068367
AA Change: Q847L

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: Q847L

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: Q847L

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: Q847L

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: Q847L

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: Q847L

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: Q930L

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: Q930L

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clec4f	CTT	CT	6: 83,630,247 (GRCm39)		probably null	Het
Edem2	T	C	2: 155,555,279 (GRCm39)	K275E	probably benign	Het
Ehf	T	C	2: 103,097,469 (GRCm39)	I193V	possibly damaging	Het
Gsdma3	A	G	11: 98,528,830 (GRCm39)	N428S	possibly damaging	Het
Gtf2h4	C	A	17: 35,982,117 (GRCm39)		probably null	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Naalad2	A	T	9: 18,246,317 (GRCm39)		probably null	Het
Ndufa8	C	T	2: 35,926,554 (GRCm39)	A161T	probably benign	Het
Nlrp14	A	T	7: 106,781,869 (GRCm39)	L355F	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pcnx4	T	C	12: 72,622,172 (GRCm39)	I1047T	probably benign	Het
Pcolce2	G	A	9: 95,560,458 (GRCm39)	W169*	probably null	Het
Plxdc2	A	G	2: 16,517,001 (GRCm39)	D94G	probably benign	Het
Rp1	A	T	1: 4,416,182 (GRCm39)	Y1643*	probably null	Het
Skint4	A	G	4: 111,975,402 (GRCm39)	T121A	possibly damaging	Het
Speg	A	G	1: 75,407,109 (GRCm39)	I3133V	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trim34a	T	A	7: 103,910,262 (GRCm39)	S355T	probably damaging	Het
Trpv6	T	G	6: 41,603,045 (GRCm39)	N276H	probably damaging	Het
Vps8	T	C	16: 21,387,163 (GRCm39)	V1175A	probably 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
IGL01812:Dis3l	APN	9	64,217,519 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CGAGGCCTGGACAGAAATTC -3'
(R):5'- GGAGTACATGTAGACACACATCCC -3'

Sequencing Primer
(F):5'- GCCTGGACAGAAATTCTTACCTGG -3'
(R):5'- CCAGTCTTAGAACTCTTCTTAGCTAG -3'

Posted On

2014-10-30