Mutagenetix > Incidental Mutation

Incidental Mutation 'R5717:Dicer1'

451231

Institutional Source

Beutler Lab

Gene Symbol

Dicer1

Ensembl Gene

ENSMUSG00000041415

Gene Name

dicer 1, ribonuclease type III

Synonyms

D12Ertd7e, Dicer1, 1110006F08Rik

MMRRC Submission

043337-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104654001-104718211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104671387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 961 (Y961F)

Ref Sequence

ENSEMBL: ENSMUSP00000043676 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041987
AA Change: Y961F

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

SMART Domains

Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: Y961F

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

noncoding transcript
Transcript: ENSMUST00000222115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222528

Meta Mutation Damage Score

0.5942

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,041,484 (GRCm39)	H205L	probably benign	Het
Acss2	T	C	2: 155,403,073 (GRCm39)	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,197,971 (GRCm39)	V77A	probably benign	Het
Adnp2	A	G	18: 80,171,479 (GRCm39)	S977P	probably benign	Het
Ankrd11	T	C	8: 123,619,377 (GRCm39)	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,148,549 (GRCm39)	R190C	probably damaging	Het
Bbs1	A	G	19: 4,947,354 (GRCm39)	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,790,978 (GRCm39)		probably null	Het
Ckap2	T	C	8: 22,665,063 (GRCm39)	E467G	probably damaging	Het
Cry1	A	T	10: 84,982,280 (GRCm39)	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,793,082 (GRCm39)	M272I	probably benign	Het
Epha2	A	T	4: 141,049,382 (GRCm39)	M689L	probably benign	Het
Foxc1	C	T	13: 31,991,471 (GRCm39)	A94V	probably benign	Het
Fras1	T	C	5: 96,929,596 (GRCm39)	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,923,396 (GRCm39)		probably benign	Het
Gm5218	A	G	15: 81,383,478 (GRCm39)		noncoding transcript	Het
Gm7735	T	C	16: 88,966,430 (GRCm39)	L18P	unknown	Het
Hr	C	T	14: 70,803,616 (GRCm39)	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,690 (GRCm39)	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,313,412 (GRCm39)		probably benign	Het
Igkv8-27	T	A	6: 70,148,918 (GRCm39)	T59S	probably benign	Het
Itga11	A	G	9: 62,659,531 (GRCm39)	T428A	probably benign	Het
Klk1b16	A	G	7: 43,788,913 (GRCm39)	I49V	probably benign	Het
Matn2	G	T	15: 34,399,237 (GRCm39)	E375*	probably null	Het
Msgn1	T	C	12: 11,258,519 (GRCm39)	Y144C	probably damaging	Het
Myh1	A	G	11: 67,099,782 (GRCm39)	N564S	probably benign	Het
Mypn	A	G	10: 62,963,555 (GRCm39)	V972A	probably damaging	Het
Or4c29	T	C	2: 88,740,366 (GRCm39)	I124V	possibly damaging	Het
Or5an11	A	G	19: 12,246,520 (GRCm39)	K309E	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,998,820 (GRCm39)	S81P	probably damaging	Het
Ptgis	C	T	2: 167,050,284 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,018 (GRCm39)	N25S	probably benign	Het
Rnf123	G	A	9: 107,944,623 (GRCm39)	T456I	probably damaging	Het
Rpl6l	T	C	10: 110,961,884 (GRCm39)		noncoding transcript	Het
Rps25	A	G	9: 44,320,047 (GRCm39)	Y23C	probably benign	Het
Sec24a	A	G	11: 51,598,037 (GRCm39)	V879A	probably benign	Het
Sema6a	G	A	18: 47,382,330 (GRCm39)	A739V	probably benign	Het
Senp6	A	T	9: 79,999,594 (GRCm39)	I4F	probably damaging	Het
Slc49a4	A	G	16: 35,539,799 (GRCm39)	F341L	probably benign	Het
Stoml3	A	T	3: 53,412,937 (GRCm39)	Q197L	probably damaging	Het
Ttn	T	A	2: 76,578,091 (GRCm39)	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,846,905 (GRCm39)	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,575,140 (GRCm39)	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,055,487 (GRCm39)	Y239N	probably damaging	Het
Zfp423	A	T	8: 88,413,187 (GRCm39)		probably null	Het
Zfp759	T	A	13: 67,286,772 (GRCm39)	C114S	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
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
R6956:Dicer1	UTSW	12	104,697,282 (GRCm39)	missense	probably damaging	1.00
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'- ACAAGTCTGTCCAAAGGGGC -3'
(R):5'- TGCAAAGGACTTACTCTGTTGG -3'

Sequencing Primer
(F):5'- TCTGTCCAAAGGGGCCATGAG -3'
(R):5'- TACGGATCTTACCCCACT -3'

Posted On

2017-01-03