Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Dicer1'

541471

Institutional Source

Beutler Lab

Gene Symbol

Dicer1

Ensembl Gene

ENSMUSG00000041415

Gene Name

dicer 1, ribonuclease type III

Synonyms

D12Ertd7e, Dicer1, 1110006F08Rik

MMRRC Submission

045067-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104654001-104718211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104697282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 92 (S92P)

Ref Sequence

ENSEMBL: ENSMUSP00000043676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041987] [ENSMUST00000222002]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041987
AA Change: S92P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: S92P

Domain	Start	End	E-Value	Type
DEXDc	30	233	5.14e-24	SMART
low complexity region	403	419	N/A	INTRINSIC
HELICc	449	546	3.15e-10	SMART
Pfam:Dicer_dimer	620	707	1.4e-25	PFAM
low complexity region	713	723	N/A	INTRINSIC
PAZ	881	1056	1.67e-48	SMART
Blast:PAZ	1080	1129	2e-8	BLAST
RIBOc	1285	1582	1.83e-35	SMART
RIBOc	1665	1831	5.97e-49	SMART
DSRM	1834	1897	6.89e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000222002
AA Change: S92P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.2435

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mutation of this locus results in arrest of early embryonic development. [provided by MGI curators]

Allele List at MGI

All alleles(25) : Targeted(14) Gene trapped(11)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,781,762 (GRCm39)	V945M	probably benign	Het
Amotl2	A	G	9: 102,601,967 (GRCm39)	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,163,132 (GRCm39)	I86T	possibly damaging	Het
C9	A	T	15: 6,474,945 (GRCm39)	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,862,528 (GRCm39)	P661T	probably damaging	Het
Ccdc202	T	A	14: 96,119,869 (GRCm39)	W209R	probably damaging	Het
Dcdc2a	T	A	13: 25,303,349 (GRCm39)	S293R	probably benign	Het
Dchs2	T	A	3: 83,261,233 (GRCm39)	N2500K	probably benign	Het
Dnah7a	T	A	1: 53,616,446 (GRCm39)	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,471,470 (GRCm39)	S364G	probably damaging	Het
Dpp6	A	T	5: 27,803,819 (GRCm39)	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,252,748 (GRCm39)	I440T	probably damaging	Het
Fam184b	T	C	5: 45,688,099 (GRCm39)	T937A	probably damaging	Het
Fam229b	T	A	10: 39,009,843 (GRCm39)		probably null	Het
Gbp11	A	G	5: 105,476,241 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
H2-T3	T	A	17: 36,500,263 (GRCm39)	Y144F	probably damaging	Het
Kel	T	G	6: 41,664,907 (GRCm39)	D7A	probably damaging	Het
Lrrc7	A	G	3: 157,994,668 (GRCm39)	V166A	probably benign	Het
Mapt	T	C	11: 104,209,081 (GRCm39)		probably null	Het
Marchf3	A	G	18: 56,909,053 (GRCm39)	V244A	probably benign	Het
Mboat1	T	C	13: 30,422,059 (GRCm39)	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,435,621 (GRCm39)	D604G	probably damaging	Het
Muc16	T	C	9: 18,556,322 (GRCm39)	T3324A	unknown	Het
Nalf1	T	A	8: 9,820,744 (GRCm39)	Q92L	probably benign	Het
Nat10	T	C	2: 103,564,757 (GRCm39)	I495V	probably benign	Het
Or6c208	A	T	10: 129,224,166 (GRCm39)	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,635,337 (GRCm39)	N75D	probably damaging	Het
Psmd3	T	A	11: 98,586,377 (GRCm39)	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 92,012,941 (GRCm39)		probably null	Het
Scube1	T	C	15: 83,606,077 (GRCm39)	Y65C	probably damaging	Het
Slc12a4	A	G	8: 106,680,484 (GRCm39)	F211L	probably damaging	Het
Socs7	T	C	11: 97,267,849 (GRCm39)	S327P	probably benign	Het
Spef2	A	T	15: 9,685,021 (GRCm39)	D591E	probably damaging	Het
Sult2a6	T	A	7: 13,988,748 (GRCm39)	D4V	possibly damaging	Het
Tdpoz8	T	C	3: 92,981,279 (GRCm39)	V25A	possibly damaging	Het
Tdrd9	A	G	12: 112,002,788 (GRCm39)		probably benign	Het
Tgm4	G	T	9: 122,893,768 (GRCm39)	M155I	possibly damaging	Het
Togaram2	T	C	17: 72,036,183 (GRCm39)	V891A	probably benign	Het
Usp1	A	G	4: 98,819,243 (GRCm39)	E235G	probably damaging	Het
Usp2	T	A	9: 44,004,053 (GRCm39)	V533E	probably damaging	Het
Vcan	T	A	13: 89,837,550 (GRCm39)	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,397,505 (GRCm39)	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,225,136 (GRCm39)	C458F	probably damaging	Het

Other mutations in Dicer1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Dicer1	APN	12	104,663,031 (GRCm39)	missense	possibly damaging	0.93
IGL01061:Dicer1	APN	12	104,672,586 (GRCm39)	missense	probably null	0.75
IGL01527:Dicer1	APN	12	104,657,869 (GRCm39)	nonsense	probably null
IGL01597:Dicer1	APN	12	104,671,469 (GRCm39)	nonsense	probably null
IGL01636:Dicer1	APN	12	104,688,500 (GRCm39)	missense	probably damaging	1.00
IGL01717:Dicer1	APN	12	104,669,046 (GRCm39)	nonsense	probably null
IGL01765:Dicer1	APN	12	104,672,999 (GRCm39)	missense	probably damaging	1.00
IGL01871:Dicer1	APN	12	104,670,439 (GRCm39)	missense	probably damaging	1.00
IGL02316:Dicer1	APN	12	104,668,812 (GRCm39)	missense	probably damaging	1.00
IGL02317:Dicer1	APN	12	104,663,279 (GRCm39)	missense	probably damaging	1.00
IGL02539:Dicer1	APN	12	104,663,294 (GRCm39)	missense	probably damaging	0.97
IGL02544:Dicer1	APN	12	104,681,091 (GRCm39)	missense	probably damaging	1.00
IGL02664:Dicer1	APN	12	104,671,388 (GRCm39)	missense	probably damaging	1.00
IGL02667:Dicer1	APN	12	104,681,165 (GRCm39)	missense	probably damaging	1.00
IGL03353:Dicer1	APN	12	104,679,366 (GRCm39)	missense	probably damaging	1.00
IGL03377:Dicer1	APN	12	104,678,456 (GRCm39)	missense	probably damaging	0.98
everest	UTSW	12	104,671,387 (GRCm39)	missense	probably damaging	1.00
PIT4480001:Dicer1	UTSW	12	104,662,803 (GRCm39)	missense	probably benign
R0032:Dicer1	UTSW	12	104,671,057 (GRCm39)	nonsense	probably null
R0032:Dicer1	UTSW	12	104,671,057 (GRCm39)	nonsense	probably null
R0219:Dicer1	UTSW	12	104,658,384 (GRCm39)	critical splice donor site	probably null
R0242:Dicer1	UTSW	12	104,668,710 (GRCm39)	missense	probably benign	0.02
R0242:Dicer1	UTSW	12	104,668,710 (GRCm39)	missense	probably benign	0.02
R0385:Dicer1	UTSW	12	104,670,433 (GRCm39)	missense	probably damaging	1.00
R0402:Dicer1	UTSW	12	104,697,323 (GRCm39)	missense	probably benign	0.04
R0426:Dicer1	UTSW	12	104,668,801 (GRCm39)	missense	probably damaging	1.00
R0453:Dicer1	UTSW	12	104,668,889 (GRCm39)	missense	probably benign
R0502:Dicer1	UTSW	12	104,671,319 (GRCm39)	missense	probably damaging	1.00
R0507:Dicer1	UTSW	12	104,657,917 (GRCm39)	missense	probably damaging	1.00
R0511:Dicer1	UTSW	12	104,669,100 (GRCm39)	missense	possibly damaging	0.95
R0523:Dicer1	UTSW	12	104,668,750 (GRCm39)	missense	probably damaging	1.00
R0559:Dicer1	UTSW	12	104,672,560 (GRCm39)	missense	probably damaging	1.00
R0600:Dicer1	UTSW	12	104,673,123 (GRCm39)	missense	probably damaging	1.00
R0707:Dicer1	UTSW	12	104,673,144 (GRCm39)	missense	probably damaging	1.00
R1225:Dicer1	UTSW	12	104,657,866 (GRCm39)	missense	probably damaging	0.98
R1351:Dicer1	UTSW	12	104,695,401 (GRCm39)	missense	probably damaging	0.99
R1449:Dicer1	UTSW	12	104,695,502 (GRCm39)	missense	possibly damaging	0.85
R1575:Dicer1	UTSW	12	104,688,228 (GRCm39)	critical splice donor site	probably null
R1642:Dicer1	UTSW	12	104,679,415 (GRCm39)	missense	probably damaging	1.00
R1651:Dicer1	UTSW	12	104,675,064 (GRCm39)	missense	probably damaging	1.00
R1658:Dicer1	UTSW	12	104,666,673 (GRCm39)	missense	probably benign
R1815:Dicer1	UTSW	12	104,688,410 (GRCm39)	missense	probably damaging	1.00
R1816:Dicer1	UTSW	12	104,688,410 (GRCm39)	missense	probably damaging	1.00
R1927:Dicer1	UTSW	12	104,669,143 (GRCm39)	missense	possibly damaging	0.91
R2113:Dicer1	UTSW	12	104,679,473 (GRCm39)	missense	probably damaging	1.00
R2129:Dicer1	UTSW	12	104,688,290 (GRCm39)	missense	probably damaging	1.00
R2157:Dicer1	UTSW	12	104,669,208 (GRCm39)	missense	probably benign	0.17
R2202:Dicer1	UTSW	12	104,697,297 (GRCm39)	missense	possibly damaging	0.95
R2203:Dicer1	UTSW	12	104,697,297 (GRCm39)	missense	possibly damaging	0.95
R2243:Dicer1	UTSW	12	104,696,447 (GRCm39)	missense	probably damaging	0.99
R4237:Dicer1	UTSW	12	104,695,487 (GRCm39)	missense	possibly damaging	0.48
R4419:Dicer1	UTSW	12	104,671,373 (GRCm39)	missense	probably damaging	1.00
R4482:Dicer1	UTSW	12	104,672,536 (GRCm39)	missense	probably damaging	1.00
R4564:Dicer1	UTSW	12	104,671,010 (GRCm39)	nonsense	probably null
R4776:Dicer1	UTSW	12	104,658,705 (GRCm39)	missense	probably damaging	0.99
R4834:Dicer1	UTSW	12	104,662,850 (GRCm39)	missense	probably benign	0.44
R4904:Dicer1	UTSW	12	104,679,325 (GRCm39)	missense	probably benign
R5202:Dicer1	UTSW	12	104,660,990 (GRCm39)	nonsense	probably null
R5272:Dicer1	UTSW	12	104,670,499 (GRCm39)	missense	probably damaging	1.00
R5363:Dicer1	UTSW	12	104,669,410 (GRCm39)	missense	probably damaging	1.00
R5717:Dicer1	UTSW	12	104,671,387 (GRCm39)	missense	probably damaging	1.00
R6381:Dicer1	UTSW	12	104,662,721 (GRCm39)	missense	probably benign	0.00
R6479:Dicer1	UTSW	12	104,662,982 (GRCm39)	missense	probably damaging	0.97
R7234:Dicer1	UTSW	12	104,675,108 (GRCm39)	missense	probably damaging	1.00
R7401:Dicer1	UTSW	12	104,678,537 (GRCm39)	missense	probably benign
R7407:Dicer1	UTSW	12	104,688,610 (GRCm39)	nonsense	probably null
R7471:Dicer1	UTSW	12	104,660,969 (GRCm39)	missense	probably damaging	1.00
R7699:Dicer1	UTSW	12	104,671,429 (GRCm39)	missense	probably damaging	1.00
R7768:Dicer1	UTSW	12	104,672,956 (GRCm39)	missense	probably damaging	0.99
R7831:Dicer1	UTSW	12	104,675,059 (GRCm39)	missense	probably damaging	1.00
R7998:Dicer1	UTSW	12	104,670,328 (GRCm39)	missense	probably damaging	1.00
R8010:Dicer1	UTSW	12	104,658,391 (GRCm39)	missense	probably damaging	0.99
R8061:Dicer1	UTSW	12	104,669,077 (GRCm39)	nonsense	probably null
R8213:Dicer1	UTSW	12	104,668,952 (GRCm39)	missense	probably benign	0.00
R8261:Dicer1	UTSW	12	104,657,865 (GRCm39)	missense	probably damaging	1.00
R8419:Dicer1	UTSW	12	104,668,936 (GRCm39)	missense	probably benign	0.00
R8708:Dicer1	UTSW	12	104,694,704 (GRCm39)	missense	possibly damaging	0.65
R8851:Dicer1	UTSW	12	104,690,300 (GRCm39)	missense	possibly damaging	0.76
R9220:Dicer1	UTSW	12	104,679,415 (GRCm39)	missense	probably damaging	1.00
R9371:Dicer1	UTSW	12	104,670,991 (GRCm39)	missense	probably damaging	1.00
R9387:Dicer1	UTSW	12	104,695,499 (GRCm39)	missense	possibly damaging	0.48
R9505:Dicer1	UTSW	12	104,697,297 (GRCm39)	missense	possibly damaging	0.95
R9636:Dicer1	UTSW	12	104,688,406 (GRCm39)	nonsense	probably null
R9682:Dicer1	UTSW	12	104,672,484 (GRCm39)	missense	probably damaging	1.00
X0018:Dicer1	UTSW	12	104,663,193 (GRCm39)	missense	probably benign	0.00
Z1176:Dicer1	UTSW	12	104,697,279 (GRCm39)	missense	probably null	0.97

Predicted Primers

PCR Primer
(F):5'- TAGCCATCTCCCCAGAAGTC -3'
(R):5'- CATGTTTCAGGTTGAGCTGC -3'

Sequencing Primer
(F):5'- TCATCTAAGAGAAACACAGAGTCTG -3'
(R):5'- CAGGTTGAGCTGCTGGAAGC -3'

Posted On

2018-11-28