Mutagenetix > Incidental Mutation

Incidental Mutation 'R9220:Dicer1'

699424

Institutional Source

Beutler Lab

Gene Symbol

Dicer1

Ensembl Gene

ENSMUSG00000041415

Gene Name

dicer 1, ribonuclease type III

Synonyms

D12Ertd7e, Dicer1, 1110006F08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9220 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104654001-104718211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104679415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 521 (C521R)

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: C521R

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

SMART Domains

Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: C521R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

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
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Afg3l2	T	G	18: 67,562,266 (GRCm39)	I270L	probably benign	Het
Akap6	A	T	12: 53,187,232 (GRCm39)	I1549F	possibly damaging	Het
Ank2	T	C	3: 126,737,086 (GRCm39)	T2933A	unknown	Het
Atp1a3	C	A	7: 24,696,625 (GRCm39)	E309*	probably null	Het
B4galt2	T	C	4: 117,734,399 (GRCm39)	Y250C	probably damaging	Het
Bcl2l13	C	A	6: 120,847,735 (GRCm39)	T129K	possibly damaging	Het
Bltp3b	A	T	10: 89,626,457 (GRCm39)	T384S	probably benign	Het
Clp1	A	T	2: 84,554,076 (GRCm39)	H364Q	probably damaging	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dnah10	A	T	5: 124,871,437 (GRCm39)	I2486F	probably benign	Het
Eml1	C	A	12: 108,480,702 (GRCm39)	C389*	probably null	Het
Fabp6	C	T	11: 43,489,572 (GRCm39)	G23D	probably benign	Het
Fam3b	A	T	16: 97,302,111 (GRCm39)	S38T	probably benign	Het
Fsd1l	A	T	4: 53,679,799 (GRCm39)	K166*	probably null	Het
Galc	A	G	12: 98,220,523 (GRCm39)	S115P	probably damaging	Het
Gpn1	G	A	5: 31,664,884 (GRCm39)	A303T	probably benign	Het
Grid2	A	T	6: 63,885,888 (GRCm39)	S95C	probably damaging	Het
Helz	T	A	11: 107,560,873 (GRCm39)	S1312T	probably benign	Het
Matn2	T	C	15: 34,410,325 (GRCm39)	F506L	possibly damaging	Het
Mcemp1	A	G	8: 3,717,512 (GRCm39)	S148G	probably benign	Het
Minar1	T	A	9: 89,484,398 (GRCm39)	D333V	probably damaging	Het
Ndrg1	A	G	15: 66,805,711 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,523 (GRCm39)	N377Y	probably damaging	Het
Nox4	C	T	7: 86,970,774 (GRCm39)	T217I	probably benign	Het
Or7g21	T	C	9: 19,033,193 (GRCm39)	F311S	possibly damaging	Het
Or8b52	A	T	9: 38,576,803 (GRCm39)	Y112*	probably null	Het
Phf8-ps	T	C	17: 33,286,494 (GRCm39)	I103V	probably benign	Het
Plekhd1	T	A	12: 80,768,726 (GRCm39)	F403Y	possibly damaging	Het
Plekhg1	T	C	10: 3,913,805 (GRCm39)	S1231P		Het
Plekhg3	T	A	12: 76,618,839 (GRCm39)	M497K	probably benign	Het
Rpap1	T	C	2: 119,604,669 (GRCm39)	H413R	probably damaging	Het
Rragd	A	G	4: 32,995,924 (GRCm39)	T90A	probably damaging	Het
Septin9	T	C	11: 117,242,396 (GRCm39)	M286T	probably benign	Het
Shpk	GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA	GA	11: 73,113,996 (GRCm39)		probably null	Het
Slc22a2	T	A	17: 12,838,757 (GRCm39)	D528E	probably benign	Het
Slirp	G	A	12: 87,494,376 (GRCm39)	R47K	probably benign	Het
Sncg	T	C	14: 34,096,474 (GRCm39)	T22A	possibly damaging	Het
Tnfrsf21	A	G	17: 43,398,801 (GRCm39)	S636G	probably damaging	Het
Unc80	T	G	1: 66,546,534 (GRCm39)	S535R	probably damaging	Het
Vmn1r149	A	T	7: 22,137,378 (GRCm39)	S93T	probably benign	Het
Vps13d	A	G	4: 144,783,058 (GRCm39)	Y3957H		Het
Wdr35	T	A	12: 9,036,000 (GRCm39)	V257E	possibly damaging	Het
Wscd1	A	G	11: 71,662,750 (GRCm39)	T264A	probably benign	Het
Zfp266	G	A	9: 20,413,337 (GRCm39)	Q108*	probably null	Het
Zfp62	T	A	11: 49,106,075 (GRCm39)	S55R	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
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
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
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'- GGAAGGTGCATTATCTTTCTGATC -3'
(R):5'- TTCTCTGGGCTGACCTTAGG -3'

Sequencing Primer
(F):5'- CTCACCTTTTCAATAGCTTTGTAGG -3'
(R):5'- GGTTGTAGTGTGCCTAAGAAATAG -3'

Posted On

2022-02-07