Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02664:Dicer1'

302673

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dicer1

Ensembl Gene

ENSMUSG00000041415

Gene Name

dicer 1, ribonuclease type III

Synonyms

D12Ertd7e, Dicer1, 1110006F08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02664

Quality Score

Status

Chromosome

Chromosomal Location

104654001-104718211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104671388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 961 (Y961H)

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: Y961H

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

SMART Domains

Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: Y961H

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	T	5: 36,006,860 (GRCm39)	D425V	probably damaging	Het
Afdn	G	T	17: 14,072,728 (GRCm39)		probably benign	Het
Afg2a	A	G	3: 37,490,814 (GRCm39)	D453G	probably damaging	Het
Ap2a2	C	T	7: 141,209,136 (GRCm39)	T776I	probably benign	Het
Apcdd1	T	C	18: 63,084,891 (GRCm39)		probably benign	Het
Bdp1	A	T	13: 100,188,047 (GRCm39)	Y1513N	probably benign	Het
Btaf1	T	C	19: 36,955,828 (GRCm39)		probably benign	Het
C2cd3	A	T	7: 100,068,922 (GRCm39)	M917L	possibly damaging	Het
Cmtm6	T	C	9: 114,575,613 (GRCm39)	V174A	probably benign	Het
Cyp2d12	T	A	15: 82,443,535 (GRCm39)	I448K	probably benign	Het
Ddb1	A	G	19: 10,585,247 (GRCm39)	I101V	probably benign	Het
Dnaaf1	T	G	8: 120,309,260 (GRCm39)	I116S	probably damaging	Het
Ecscr	T	A	18: 35,854,451 (GRCm39)	I5F	possibly damaging	Het
Eftud2	T	C	11: 102,732,538 (GRCm39)	E691G	probably damaging	Het
Fat2	A	G	11: 55,201,922 (GRCm39)	V384A	probably damaging	Het
Ftcd	T	C	10: 76,420,439 (GRCm39)	M391T	probably damaging	Het
Gab2	T	G	7: 96,953,389 (GRCm39)	S587R	probably damaging	Het
Gm18856	G	A	13: 14,139,809 (GRCm39)		probably benign	Het
Herc2	A	T	7: 55,785,426 (GRCm39)	R1559*	probably null	Het
Inpp5f	G	A	7: 128,265,738 (GRCm39)	R161H	probably damaging	Het
Iws1	A	T	18: 32,203,217 (GRCm39)	D31V	possibly damaging	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
Lce6a	A	T	3: 92,527,607 (GRCm39)	C67S	possibly damaging	Het
Lrba	A	G	3: 86,233,038 (GRCm39)	I800V	possibly damaging	Het
Mis18bp1	A	C	12: 65,200,654 (GRCm39)	Y407*	probably null	Het
Mllt3	A	C	4: 87,949,860 (GRCm39)	W29G	probably damaging	Het
Mon2	A	G	10: 122,845,401 (GRCm39)		probably benign	Het
Mtbp	C	T	15: 55,483,039 (GRCm39)	T372M	probably benign	Het
Nefm	A	T	14: 68,357,664 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,335,424 (GRCm39)		probably null	Het
Nf1	G	A	11: 79,335,425 (GRCm39)		probably null	Het
Ntn1	T	A	11: 68,276,295 (GRCm39)	I218F	probably benign	Het
Numa1	T	G	7: 101,648,109 (GRCm39)	S613R	possibly damaging	Het
Or14a259	C	T	7: 86,012,811 (GRCm39)	V245I	possibly damaging	Het
Pcsk5	A	T	19: 17,434,134 (GRCm39)	D1411E	probably damaging	Het
Prl2b1	G	T	13: 27,569,225 (GRCm39)	N124K	possibly damaging	Het
Rab15	T	C	12: 76,851,225 (GRCm39)	I30M	possibly damaging	Het
Rnf215	G	T	11: 4,090,307 (GRCm39)	V342L	probably damaging	Het
Saxo4	A	T	19: 10,459,655 (GRCm39)	S17R	probably damaging	Het
Togaram2	T	A	17: 72,036,234 (GRCm39)	I908N	probably damaging	Het
Trim54	A	G	5: 31,293,391 (GRCm39)	N205S	probably damaging	Het
Ttn	G	A	2: 76,697,795 (GRCm39)	T80I	possibly damaging	Het
Vmn2r106	G	A	17: 20,488,344 (GRCm39)	T685I	possibly damaging	Het
Vwa5b2	T	C	16: 20,414,063 (GRCm39)		probably benign	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp40	G	A	17: 23,395,960 (GRCm39)	S209F	probably benign	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
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
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

Posted On

2015-04-16