Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Dis3l'

600370

Institutional Source

Beutler Lab

Gene Symbol

Dis3l

Ensembl Gene

ENSMUSG00000032396

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

Synonyms

MMRRC Submission

045648-MU

Accession Numbers

Essential gene?

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

Stock #

R7798 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

64214038-64248570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64248299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 39 (P39T)

Ref Sequence

ENSEMBL: ENSMUSP00000129772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000154076] [ENSMUST00000168844]

AlphaFold

Q8C0S1

Predicted Effect

probably benign
Transcript: ENSMUST00000068367

SMART Domains

Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396

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

SMART Domains

Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396

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

SMART Domains

Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396

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: ENSMUST00000154076

Predicted Effect

probably benign
Transcript: ENSMUST00000168844
AA Change: P39T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: P39T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,932 (GRCm39)	N128I	probably damaging	Het
Abca13	A	G	11: 9,241,664 (GRCm39)	T1176A	probably benign	Het
Abca9	A	G	11: 110,029,005 (GRCm39)	V851A	probably benign	Het
Abcc6	C	A	7: 45,626,277 (GRCm39)	E1494*	probably null	Het
Adamts14	A	T	10: 61,106,952 (GRCm39)	V56E	probably damaging	Het
Adamts15	G	A	9: 30,815,939 (GRCm39)	T639M	probably damaging	Het
Albfm1	T	C	5: 90,745,370 (GRCm39)	S608P	possibly damaging	Het
Arhgap11a	A	C	2: 113,673,680 (GRCm39)	V70G	probably damaging	Het
BC051665	A	T	13: 60,932,249 (GRCm39)	D113E	probably benign	Het
Best1	T	C	19: 9,969,035 (GRCm39)	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,928,399 (GRCm39)	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,427,348 (GRCm39)	Q1018K	probably benign	Het
Cdhr17	T	C	5: 17,061,656 (GRCm39)	F801L	possibly damaging	Het
Cfap74	T	A	4: 155,507,079 (GRCm39)	V180D		Het
Clca3a1	T	A	3: 144,463,723 (GRCm39)	T185S	probably damaging	Het
Clca3b	T	C	3: 144,533,891 (GRCm39)	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,353,155 (GRCm39)	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 35,023,295 (GRCm39)	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,131,166 (GRCm39)	E321G	probably benign	Het
Des	T	C	1: 75,339,003 (GRCm39)	I228T	probably damaging	Het
Disp2	A	C	2: 118,622,360 (GRCm39)	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,786,757 (GRCm39)		probably null	Het
Fgf23	A	T	6: 127,050,177 (GRCm39)	D62V	probably damaging	Het
Galnt15	C	T	14: 31,751,862 (GRCm39)	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,326,367 (GRCm39)		probably benign	Het
Gpr180	T	A	14: 118,391,098 (GRCm39)	V209D	probably damaging	Het
Gzma	A	T	13: 113,232,858 (GRCm39)	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,094,355 (GRCm39)	C19S	probably benign	Het
Il1r1	G	A	1: 40,349,526 (GRCm39)	V361I	probably benign	Het
Intu	T	C	3: 40,646,359 (GRCm39)	V598A	probably damaging	Het
Itpr2	A	G	6: 146,287,513 (GRCm39)	F471L	probably benign	Het
Kntc1	T	A	5: 123,924,357 (GRCm39)	V1081E	probably benign	Het
Kntc1	T	A	5: 123,957,180 (GRCm39)	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,271,893 (GRCm39)	K6552E	probably damaging	Het
Marf1	T	C	16: 13,956,315 (GRCm39)	H842R	probably benign	Het
Mgat4b	A	G	11: 50,116,497 (GRCm39)	T10A	possibly damaging	Het
Muc21	C	G	17: 35,932,146 (GRCm39)	G680A	unknown	Het
Muc5ac	T	C	7: 141,347,778 (GRCm39)		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 137,883,426 (GRCm39)		probably benign	Het
Nsun4	T	G	4: 115,908,371 (GRCm39)	S730R	possibly damaging	Het
Or12e1	A	T	2: 87,022,636 (GRCm39)	I202L	probably benign	Het
Or12k7	A	T	2: 36,959,186 (GRCm39)	S290C	probably damaging	Het
Or1n1	T	C	2: 36,750,348 (GRCm39)	E4G	probably benign	Het
Or4f6	A	G	2: 111,838,617 (GRCm39)	F305L	probably benign	Het
Or4k15	A	T	14: 50,364,895 (GRCm39)	Y287F	probably damaging	Het
Padi3	C	T	4: 140,513,750 (GRCm39)	E653K	probably benign	Het
Pde4a	A	G	9: 21,109,959 (GRCm39)	E280G	possibly damaging	Het
Phactr3	G	A	2: 177,925,703 (GRCm39)	R326H	probably benign	Het
Prob1	G	A	18: 35,786,397 (GRCm39)	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,167,224 (GRCm39)	R368W	probably damaging	Het
Rgs6	A	G	12: 83,116,293 (GRCm39)	T240A	probably benign	Het
Rpa1	A	T	11: 75,203,635 (GRCm39)	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,252,579 (GRCm39)	D165E	probably damaging	Het
Sco1	A	G	11: 66,944,628 (GRCm39)	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,804,531 (GRCm39)	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slco3a1	A	G	7: 73,968,344 (GRCm39)	S459P	probably benign	Het
Smg1	A	T	7: 117,771,162 (GRCm39)	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,645,804 (GRCm39)	S613F	probably damaging	Het
Stab2	A	T	10: 86,793,776 (GRCm39)	Y440N	probably damaging	Het
Syn3	A	G	10: 85,916,117 (GRCm39)	Y290H	probably damaging	Het
Tex15	C	T	8: 34,071,875 (GRCm39)	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc1	A	T	6: 116,020,539 (GRCm39)	S304R		Het
Tmem130	T	G	5: 144,680,580 (GRCm39)	K275Q	probably damaging	Het
Tmem9	C	A	1: 135,961,927 (GRCm39)	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,620,538 (GRCm39)	R233Q	probably damaging	Het
Tut7	A	T	13: 59,963,389 (GRCm39)	M323K	possibly damaging	Het
Twnk	T	C	19: 44,996,107 (GRCm39)	M180T	probably benign	Het
Ube4a	A	G	9: 44,844,629 (GRCm39)	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,475,582 (GRCm39)	N350S	probably damaging	Het
Vegfa	C	T	17: 46,342,761 (GRCm39)	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,041,518 (GRCm39)	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,595,530 (GRCm39)	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,596,192 (GRCm39)	F164S	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
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
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'- AGCCTTCGCTACGTCAGG -3'
(R):5'- GAACGTGAACGCTGCTGC -3'

Sequencing Primer
(F):5'- CTACGTCAGGCCCCGGC -3'
(R):5'- GTCTCGCCTGAGCCTGC -3'

Posted On

2019-11-26