Incidental Mutation 'PIT4480001:Dicer1'
| ID |
554878 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
PIT4480001 (G1)
|
| Quality Score |
161.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104654001-104718211 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 104662803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1593
(Q1593K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041987]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041987
AA Change: Q1593K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: Q1593K
| 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: 93.3%
- 3x: 90.7%
- 10x: 83.8%
- 20x: 69.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
G |
A |
19: 4,917,605 (GRCm39) |
Q413* |
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,740,358 (GRCm39) |
S1238N |
possibly damaging |
Het |
| Arsk |
T |
C |
13: 76,210,484 (GRCm39) |
E521G |
probably damaging |
Het |
| Baiap2 |
A |
G |
11: 119,887,913 (GRCm39) |
T356A |
probably benign |
Het |
| Baz1b |
G |
A |
5: 135,246,819 (GRCm39) |
R756H |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,615 (GRCm39) |
P453S |
probably damaging |
Het |
| Cep41 |
G |
A |
6: 30,658,412 (GRCm39) |
P196S |
probably damaging |
Het |
| Cln5 |
T |
A |
14: 103,309,214 (GRCm39) |
Y89* |
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,905,024 (GRCm39) |
F919S |
probably damaging |
Het |
| Cntrl |
C |
T |
2: 35,045,440 (GRCm39) |
H1383Y |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,592 (GRCm39) |
S1037P |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,659,813 (GRCm39) |
S380T |
probably benign |
Het |
| Cyrib |
G |
A |
15: 63,828,490 (GRCm39) |
T11I |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,238,022 (GRCm39) |
S323T |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,078,863 (GRCm39) |
I2367V |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,086,588 (GRCm39) |
S184P |
possibly damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,114,702 (GRCm39) |
M914K |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,068,784 (GRCm39) |
E37G |
probably damaging |
Het |
| Fyco1 |
G |
T |
9: 123,657,715 (GRCm39) |
Y820* |
probably null |
Het |
| Gipr |
T |
C |
7: 18,896,859 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,536,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,685 (GRCm39) |
V79A |
probably damaging |
Het |
| Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
| Inpp4b |
A |
C |
8: 82,772,896 (GRCm39) |
E730A |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,286,858 (GRCm39) |
T579I |
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,840,608 (GRCm39) |
M1201L |
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,801,254 (GRCm39) |
N631S |
possibly damaging |
Het |
| Mdh1 |
G |
A |
11: 21,508,538 (GRCm39) |
S268L |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,103 (GRCm39) |
T314S |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,731 (GRCm39) |
Q233R |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,372 (GRCm39) |
F124L |
probably benign |
Het |
| Or5w17 |
T |
C |
2: 87,584,127 (GRCm39) |
D70G |
possibly damaging |
Het |
| Paqr5 |
T |
A |
9: 61,863,438 (GRCm39) |
I295L |
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,756,560 (GRCm39) |
H379Y |
unknown |
Het |
| Phtf2 |
A |
T |
5: 21,018,242 (GRCm39) |
I33N |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,553,977 (GRCm39) |
M115V |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,003,576 (GRCm39) |
Y431H |
possibly damaging |
Het |
| Prph2 |
GT |
G |
17: 47,222,039 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
C |
T |
1: 86,055,960 (GRCm39) |
P774L |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,247,340 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,304,977 (GRCm39) |
D770G |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,087 (GRCm39) |
L439P |
probably damaging |
Het |
| Slitrk6 |
TTTTAGTCTGTTCTACCAACACCTT |
TTT |
14: 110,987,257 (GRCm39) |
|
probably null |
Het |
| Sox6 |
T |
C |
7: 115,196,744 (GRCm39) |
I295M |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,586 (GRCm39) |
M4475V |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,929,637 (GRCm39) |
D301E |
probably benign |
Het |
| Tas2r117 |
G |
A |
6: 132,780,014 (GRCm39) |
V51I |
possibly damaging |
Het |
| Tbx2 |
C |
T |
11: 85,725,561 (GRCm39) |
R171C |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,402,955 (GRCm39) |
I320V |
probably benign |
Het |
| Tjp3 |
C |
A |
10: 81,115,091 (GRCm39) |
G396W |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,400,460 (GRCm39) |
N4D |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,071 (GRCm39) |
N165D |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,802 (GRCm39) |
Y138F |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,632,817 (GRCm39) |
S267P |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,940,328 (GRCm39) |
L803* |
probably null |
Het |
| Zbbx |
T |
A |
3: 75,043,794 (GRCm39) |
D35V |
probably damaging |
Het |
| Zscan12 |
T |
G |
13: 21,552,744 (GRCm39) |
N189K |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGATATCAGGTGGTTGAGGG -3'
(R):5'- CATCAGAAGAGAACTGTGGCGTC -3'
Sequencing Primer
(F):5'- CAGATATCAGGTGGTTGAGGGTTTTC -3'
(R):5'- GGAAGCAGTCCATTTCTTACGAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation