Mutagenetix > Incidental Mutations

Incidental Mutation 'R2154:Dis3l'

234634

Institutional Source

Beutler Lab

Gene Symbol

Dis3l

Ensembl Gene

ENSMUSG00000032396

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

Synonyms

MMRRC Submission

040157-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R2154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64306756-64341288 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64307263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 981 (N981I)

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: N898I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: N898I

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: N898I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: N898I

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: N898I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: N898I

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: N981I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: N981I

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,455,115	E363G	probably benign	Het
Abca3	A	G	17: 24,377,719	Y382C	probably damaging	Het
Abca5	A	G	11: 110,292,174	I1019T	probably benign	Het
Acox3	A	T	5: 35,605,224	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,031	M261K	probably benign	Het
Aqr	A	C	2: 114,137,004	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,092,559	T56S	probably benign	Het
Asap2	A	T	12: 21,112,083	T14S	probably damaging	Het
Aspg	A	G	12: 112,120,974	E288G	probably benign	Het
Atp2c2	A	G	8: 119,756,102	N901S	probably benign	Het
Cabcoco1	A	G	10: 68,431,262	L205P	probably damaging	Het
Cant1	A	G	11: 118,411,437	L18P	probably damaging	Het
Cdca2	G	A	14: 67,676,976	P945S	probably damaging	Het
Cfap74	A	G	4: 155,429,296	K522E	possibly damaging	Het
Chek1	C	A	9: 36,723,983	V35F	probably damaging	Het
Cpa6	A	T	1: 10,337,322	M330K	probably damaging	Het
Creb3l4	G	T	3: 90,238,485	N246K	probably damaging	Het
Cyp2c55	T	A	19: 39,034,375	V319D	probably damaging	Het
Dapk1	T	A	13: 60,729,503	S519T	probably benign	Het
Dhx38	T	C	8: 109,560,674	S221G	probably benign	Het
Dock4	T	A	12: 40,820,662	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,844,548		probably benign	Het
Dok5	G	A	2: 170,800,896	G38D	probably damaging	Het
Ercc6l2	T	C	13: 63,866,007	S631P	probably damaging	Het
Fat4	A	T	3: 38,887,539	S194C	probably damaging	Het
Fuk	T	A	8: 110,889,072	T542S	probably benign	Het
Garem2	T	C	5: 30,108,299	S54P	probably damaging	Het
Gdf10	T	C	14: 33,934,389	I436T	probably damaging	Het
Gfod1	T	C	13: 43,303,470	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,111,151		probably null	Het
Heatr5b	G	T	17: 78,831,444	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,485,649	K211*	probably null	Het
Itgam	A	C	7: 128,085,577	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,489,884	F484S	probably damaging	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Kif16b	T	C	2: 142,690,580	K1213R	probably damaging	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Mmp25	T	A	17: 23,631,074	Y504F	probably damaging	Het
Mtf2	A	G	5: 108,080,931	K38E	possibly damaging	Het
Myh14	A	C	7: 44,652,429		probably null	Het
Nedd4l	T	A	18: 65,210,330	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,601,479	T562A	probably benign	Het
Olfr913	G	T	9: 38,594,411	L63F	probably damaging	Het
Pds5a	A	T	5: 65,650,498	V464E	probably damaging	Het
Peak1	C	T	9: 56,207,212	V452M	probably damaging	Het
Phf2	T	C	13: 48,820,073	Y372C	unknown	Het
Poc1a	T	A	9: 106,285,574		probably null	Het
Prss33	C	T	17: 23,834,843	V87M	probably damaging	Het
Psmc2	C	G	5: 21,803,129	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,002,468	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,475,441	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,635	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,985	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,378,511	D1266E	probably benign	Het
Sidt2	T	C	9: 45,945,340	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,208,687	K125R	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Smg1	A	T	7: 118,158,076		probably benign	Het
Spinkl	A	T	18: 44,169,127	N32K	probably benign	Het
Stxbp1	T	A	2: 32,802,856	I383F	probably damaging	Het
Taf3	C	T	2: 9,951,566	E597K	possibly damaging	Het
Tln2	T	C	9: 67,302,560	T432A	probably damaging	Het
Tmco6	T	C	18: 36,741,687	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235	T198A	probably damaging	Het
Vmn1r230	T	A	17: 20,846,801	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,933,983	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,839,846	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,563,715	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 18,947,322	R613*	probably null	Het
Yme1l1	T	C	2: 23,162,508	L58P	probably damaging	Het
Zan	G	A	5: 137,414,249		probably benign	Het
Zfhx4	A	G	3: 5,401,741	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,209,649	D1945G	possibly damaging	Het

Other mutations in Dis3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Dis3l	APN	9	64319254	critical splice acceptor site	probably null
IGL01812:Dis3l	APN	9	64310237	missense	probably benign	0.00
IGL01838:Dis3l	APN	9	64308299	missense	probably benign	0.41
IGL02104:Dis3l	APN	9	64310329	missense	possibly damaging	0.61
IGL02478:Dis3l	APN	9	64314773	missense	probably benign	0.00
IGL02481:Dis3l	APN	9	64319080	splice site	probably null
IGL02483:Dis3l	APN	9	64319080	splice site	probably null
IGL02965:Dis3l	APN	9	64310484	missense	probably damaging	0.99
IGL03139:Dis3l	APN	9	64311950	missense	probably damaging	0.99
IGL03054:Dis3l	UTSW	9	64310440	critical splice donor site	probably null
R0066:Dis3l	UTSW	9	64319165	missense	probably benign	0.27
R0066:Dis3l	UTSW	9	64319165	missense	probably benign	0.27
R0724:Dis3l	UTSW	9	64307126	missense	possibly damaging	0.92
R0801:Dis3l	UTSW	9	64319154	missense	probably benign
R0925:Dis3l	UTSW	9	64341130	start codon destroyed	probably null	0.97
R1502:Dis3l	UTSW	9	64325787	missense	possibly damaging	0.68
R1541:Dis3l	UTSW	9	64307489	missense	probably benign	0.07
R1794:Dis3l	UTSW	9	64317776	missense	possibly damaging	0.67
R1929:Dis3l	UTSW	9	64330883	missense	probably damaging	0.96
R2007:Dis3l	UTSW	9	64308276	splice site	probably null
R2062:Dis3l	UTSW	9	64339573	missense	probably benign	0.02
R2152:Dis3l	UTSW	9	64307263	missense	probably benign	0.00
R2153:Dis3l	UTSW	9	64307263	missense	probably benign	0.00
R2186:Dis3l	UTSW	9	64339612	nonsense	probably null
R2271:Dis3l	UTSW	9	64330883	missense	probably damaging	0.96
R2280:Dis3l	UTSW	9	64317794	missense	possibly damaging	0.70
R2287:Dis3l	UTSW	9	64307497	missense	probably benign	0.20
R3156:Dis3l	UTSW	9	64311750	missense	probably benign	0.25
R4664:Dis3l	UTSW	9	64330798	missense	unknown
R4775:Dis3l	UTSW	9	64330908	missense	probably benign	0.16
R4977:Dis3l	UTSW	9	64307201	missense	probably benign	0.00
R4997:Dis3l	UTSW	9	64311942	missense	possibly damaging	0.76
R5097:Dis3l	UTSW	9	64319216	missense	probably damaging	1.00
R5579:Dis3l	UTSW	9	64330835	missense	probably benign	0.44
R5623:Dis3l	UTSW	9	64307603	missense	possibly damaging	0.70
R6310:Dis3l	UTSW	9	64322575	missense	probably benign	0.00
R6442:Dis3l	UTSW	9	64307555	missense	probably benign
R6505:Dis3l	UTSW	9	64307513	missense	probably benign	0.15
R6731:Dis3l	UTSW	9	64310438	splice site	probably null
R7008:Dis3l	UTSW	9	64310453	missense	possibly damaging	0.96
R7405:Dis3l	UTSW	9	64314704	missense	probably damaging	1.00
R7555:Dis3l	UTSW	9	64311937	nonsense	probably null
R7798:Dis3l	UTSW	9	64341017	missense	probably benign
R7890:Dis3l	UTSW	9	64322471	missense	probably benign	0.00
R8329:Dis3l	UTSW	9	64311830	missense	possibly damaging	0.50
R8715:Dis3l	UTSW	9	64307060	missense	probably benign
R8942:Dis3l	UTSW	9	64307593	missense	probably benign	0.22
R8973:Dis3l	UTSW	9	64339542	missense	probably damaging	0.96
R9189:Dis3l	UTSW	9	64310449	missense	probably benign	0.21
R9240:Dis3l	UTSW	9	64310165	critical splice donor site	probably null
R9354:Dis3l	UTSW	9	64314640	missense	probably benign	0.01
R9394:Dis3l	UTSW	9	64317735	missense	probably benign	0.24
X0020:Dis3l	UTSW	9	64325734	missense	probably damaging	1.00
X0065:Dis3l	UTSW	9	64307054	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCTCCTCCAGAAGTGTGTACAG -3'
(R):5'- TCATCTCTACCACAGCTGGAG -3'

Sequencing Primer
(F):5'- AAGTGTGTACAGACTTCTTCCC -3'
(R):5'- CATCTATTTGACCATGTGACGG -3'

Posted On

2014-10-01