Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Dis3l'

438292

Institutional Source

Beutler Lab

Gene Symbol

Dis3l

Ensembl Gene

ENSMUSG00000032396

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

Synonyms

MMRRC Submission

043267-MU

Accession Numbers

Essential gene?

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

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64214038-64248570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64238117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 125 (C125F)

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
AA Change: C42F

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: C42F

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: C42F

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: C42F

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: C42F

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: C42F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134843

Predicted Effect

unknown
Transcript: ENSMUST00000154076
AA Change: V17F

Predicted Effect

probably benign
Transcript: ENSMUST00000168844
AA Change: C125F

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: C125F

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	T	17: 24,595,703 (GRCm39)	C352F	probably damaging	Het
Abce1	A	T	8: 80,427,215 (GRCm39)	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam8	T	A	7: 139,568,897 (GRCm39)	Y201F	probably benign	Het
Adgrf1	T	A	17: 43,621,955 (GRCm39)	C731S	probably damaging	Het
Akap8l	A	T	17: 32,540,916 (GRCm39)	I529N	probably damaging	Het
Akap9	G	A	5: 4,114,714 (GRCm39)	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,053,758 (GRCm39)	D158E	probably benign	Het
Ankrd11	A	G	8: 123,610,970 (GRCm39)	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,239,390 (GRCm39)	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,186,847 (GRCm39)	I786T	probably benign	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Btnl1	T	C	17: 34,600,526 (GRCm39)		probably null	Het
Ccdc174	A	G	6: 91,858,331 (GRCm39)		probably null	Het
Ccdc183	T	C	2: 25,505,434 (GRCm39)	D177G	possibly damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cep162	G	A	9: 87,085,724 (GRCm39)	A1200V	probably benign	Het
Clic3	T	C	2: 25,348,319 (GRCm39)	L128P	probably damaging	Het
Cntnap5b	A	T	1: 100,311,120 (GRCm39)	R538*	probably null	Het
Cntnap5b	A	T	1: 100,311,124 (GRCm39)	Q539L	probably benign	Het
Coq7	A	T	7: 118,116,558 (GRCm39)	N214K	unknown	Het
Cramp1	G	A	17: 25,192,087 (GRCm39)	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,293,245 (GRCm39)	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,605,339 (GRCm39)	R132*	probably null	Het
Dnmt1	A	T	9: 20,831,501 (GRCm39)	V543D	probably damaging	Het
Dock9	A	T	14: 121,837,107 (GRCm39)	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,087,846 (GRCm39)	S413T	probably damaging	Het
Endov	A	G	11: 119,395,923 (GRCm39)	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802 (GRCm39)	V469A	possibly damaging	Het
Etf1	G	A	18: 35,046,654 (GRCm39)	P119S	probably damaging	Het
Fam135a	A	G	1: 24,068,808 (GRCm39)	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,537,012 (GRCm39)		probably null	Het
Fank1	T	A	7: 133,471,058 (GRCm39)		probably null	Het
Fbh1	A	G	2: 11,753,804 (GRCm39)	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,249,928 (GRCm39)	T397A	probably benign	Het
Gga1	T	C	15: 78,777,388 (GRCm39)	V513A	probably damaging	Het
Ggt1	T	C	10: 75,421,782 (GRCm39)	V543A	probably damaging	Het
Gm11596	A	T	11: 99,683,717 (GRCm39)	C134*	probably null	Het
Gnal	C	T	18: 67,221,842 (GRCm39)	R82C	unknown	Het
Hat1	T	C	2: 71,240,582 (GRCm39)	V92A	possibly damaging	Het
Icosl	C	T	10: 77,909,597 (GRCm39)	R181C	probably damaging	Het
Ift46	A	G	9: 44,698,160 (GRCm39)	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,752,219 (GRCm39)	K42E	possibly damaging	Het
Ipo5	A	G	14: 121,176,025 (GRCm39)	K617E	probably benign	Het
Irx5	A	G	8: 93,086,541 (GRCm39)	D208G	probably benign	Het
Itgal	T	G	7: 126,906,101 (GRCm39)	V397G	probably benign	Het
Itpr2	G	A	6: 146,074,864 (GRCm39)	R2297*	probably null	Het
Itpr3	A	G	17: 27,332,493 (GRCm39)	D1779G	probably damaging	Het
Khdc4	T	C	3: 88,607,582 (GRCm39)	S345P	probably benign	Het
Krt4	T	A	15: 101,829,669 (GRCm39)	E286D	probably benign	Het
Loxl4	C	T	19: 42,592,729 (GRCm39)	G317E	probably damaging	Het
Mapk6	T	G	9: 75,295,344 (GRCm39)	H718P	possibly damaging	Het
Mark2	A	C	19: 7,260,181 (GRCm39)	V14G	probably damaging	Het
Mbd5	A	G	2: 49,162,826 (GRCm39)	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,682,309 (GRCm39)	E482G	probably benign	Het
Mme	G	A	3: 63,256,066 (GRCm39)	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,227,276 (GRCm39)	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,528,769 (GRCm39)	F430I	probably damaging	Het
Myo6	A	G	9: 80,125,002 (GRCm39)	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,248,597 (GRCm39)	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,237,901 (GRCm39)	F235Y	possibly damaging	Het
Nmur2	A	T	11: 55,923,835 (GRCm39)	S240T	probably benign	Het
Or14c44	T	A	7: 86,061,934 (GRCm39)	Y121*	probably null	Het
Or52ae7	G	A	7: 103,120,121 (GRCm39)	V292M	probably damaging	Het
Or5d46	A	T	2: 88,170,757 (GRCm39)	I283F	possibly damaging	Het
Osbpl1a	G	T	18: 12,974,249 (GRCm39)	A62E	probably damaging	Het
Osbpl1a	A	C	18: 13,025,319 (GRCm39)	S333A	probably benign	Het
Otud4	C	T	8: 80,390,737 (GRCm39)	T417I	probably benign	Het
Pagr1a	T	C	7: 126,614,614 (GRCm39)	E197G	probably damaging	Het
Pcdh18	T	C	3: 49,699,426 (GRCm39)	Q1012R	probably damaging	Het
Pcdhgb5	A	C	18: 37,864,690 (GRCm39)	I162L	probably benign	Het
Pdpr	T	A	8: 111,850,448 (GRCm39)	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,593,366 (GRCm39)	H1582Q	probably damaging	Het
Polr1b	A	G	2: 128,952,028 (GRCm39)	K352R	probably damaging	Het
Poteg	G	A	8: 27,938,065 (GRCm39)	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,742,731 (GRCm39)	V54G	probably damaging	Het
Ppme1	A	G	7: 99,994,182 (GRCm39)	L177P	probably damaging	Het
Prkce	A	G	17: 86,927,376 (GRCm39)	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,508,327 (GRCm39)		probably null	Het
Ptpn22	A	G	3: 103,789,455 (GRCm39)		probably null	Het
Rabif	G	A	1: 134,433,943 (GRCm39)	V86M	probably damaging	Het
Rbm25	T	A	12: 83,715,281 (GRCm39)	M484K	probably benign	Het
Rcn2	G	A	9: 55,964,713 (GRCm39)	A224T	probably benign	Het
Rexo5	T	A	7: 119,433,626 (GRCm39)		probably null	Het
Rnase1	A	T	14: 51,383,219 (GRCm39)	I45N	probably benign	Het
Rnmt	T	A	18: 68,439,186 (GRCm39)	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,692,371 (GRCm39)	F188L	probably damaging	Het
Scube2	G	A	7: 109,409,944 (GRCm39)	T643M	probably damaging	Het
Skic3	T	C	13: 76,333,319 (GRCm39)	W25R	probably damaging	Het
Slc7a15	T	C	12: 8,589,344 (GRCm39)	I68V	probably benign	Het
Slco1a5	A	T	6: 142,187,851 (GRCm39)	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,988,649 (GRCm39)	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,179,325 (GRCm39)	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,471,021 (GRCm39)	S166P	probably benign	Het
Tcstv7a	T	A	13: 120,289,951 (GRCm39)	M82L	probably benign	Het
Tecpr1	C	A	5: 144,151,162 (GRCm39)	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,689,799 (GRCm39)	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,782,874 (GRCm39)	F412C	probably damaging	Het
Timm17a	A	T	1: 135,233,926 (GRCm39)	S74T	possibly damaging	Het
Tle1	A	T	4: 72,058,045 (GRCm39)	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,873,064 (GRCm39)	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,666,246 (GRCm39)	N115S	probably benign	Het
Trmt5	C	A	12: 73,328,426 (GRCm39)	R259L	possibly damaging	Het
Trmt9b	T	C	8: 36,979,195 (GRCm39)	V266A	probably benign	Het
Vmn2r50	A	T	7: 9,784,016 (GRCm39)	W153R	probably benign	Het
Vwa3a	T	G	7: 120,367,396 (GRCm39)	S184A	probably benign	Het
Zbtb25	A	G	12: 76,395,938 (GRCm39)	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,358,160 (GRCm39)	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,234,528 (GRCm39)	D35E	probably damaging	Het
Zfp316	T	C	5: 143,250,246 (GRCm39)	T56A	unknown	Het
Zfp334	A	T	2: 165,222,407 (GRCm39)	C545*	probably null	Het
Zmiz1	C	A	14: 25,645,280 (GRCm39)	S247R	probably damaging	Het
Zscan18	A	G	7: 12,509,308 (GRCm39)		probably benign	Het
Zzef1	T	C	11: 72,791,463 (GRCm39)	V2189A	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
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'- CGCAATCCCGAGTTTAACAATTGTG -3'
(R):5'- CGCACTCTGAAATGTCTCATCTG -3'

Sequencing Primer
(F):5'- CAATTGTGTATTCAGATGCCACGC -3'
(R):5'- CATCTGTTTTGATCCTTGGCAG -3'

Posted On

2016-10-26