Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Dis3l'

242482

Institutional Source

Beutler Lab

Gene Symbol

Dis3l

Ensembl Gene

ENSMUSG00000032396

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

Synonyms

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

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

Stock #

R2271 (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 64238165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 109 (D109V)

Ref Sequence

ENSEMBL: ENSMUSP00000129772 (fasta)

Gene Model

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

AlphaFold

Q8C0S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000068367
AA Change: D26V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: D26V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113890
AA Change: D26V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: D26V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120760
AA Change: D26V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: D26V

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: M1L

Predicted Effect

probably damaging
Transcript: ENSMUST00000168844
AA Change: D109V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: D109V

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

Meta Mutation Damage Score

0.6909

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,857,575 (GRCm39)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,449,699 (GRCm39)	K574*	probably null	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,604,719 (GRCm39)	D40Y	probably benign	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm39)	D612G	probably damaging	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cops6	A	T	5: 138,159,403 (GRCm39)	N10I	probably benign	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,775,846 (GRCm39)	N344D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Disp3	C	T	4: 148,356,059 (GRCm39)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,591,141 (GRCm39)	G31S	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,831,200 (GRCm39)	R571S	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Hps6	C	T	19: 45,994,121 (GRCm39)	A686V	possibly damaging	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mocs1	A	T	17: 49,756,137 (GRCm39)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Neu3	G	C	7: 99,462,650 (GRCm39)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1n1	G	A	2: 36,749,637 (GRCm39)	S241F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Or8j3	A	G	2: 86,028,161 (GRCm39)	F312L	probably benign	Het
Pik3c2b	T	C	1: 133,031,166 (GRCm39)	S1491P	probably benign	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,277,948 (GRCm39)	E383K	probably benign	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Ptprh	C	A	7: 4,606,132 (GRCm39)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Sacs	A	G	14: 61,442,109 (GRCm39)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,607,277 (GRCm39)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Sin3b	T	A	8: 73,460,047 (GRCm39)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,805,692 (GRCm39)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,371,220 (GRCm39)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,014,113 (GRCm39)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,234,942 (GRCm39)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
U2surp	T	C	9: 95,373,473 (GRCm39)	E232G	possibly damaging	Het
Usp25	T	A	16: 76,873,317 (GRCm39)	F458L	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,091,088 (GRCm39)	T227A	probably damaging	Het
Zcchc12	C	T	X: 35,462,118 (GRCm39)	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	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
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

Predicted Primers

PCR Primer
(F):5'- AGTACACAGCAATTCCAAAGAGC -3'
(R):5'- CGTGTGTACCAGAGCACTCAT -3'

Sequencing Primer
(F):5'- TTCCAAAGAGCCACAGATGAG -3'
(R):5'- ACAGCATCACTTGTTGAGCG -3'

Posted On

2014-10-16