Incidental Mutation 'R5800:Drosha'
| ID |
447367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drosha
|
| Ensembl Gene |
ENSMUSG00000022191 |
| Gene Name |
drosha, ribonuclease type III |
| Synonyms |
Etohi2, 1110013A17Rik, Rnasen |
| MMRRC Submission |
043389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R5800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
12824901-12935377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12865153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 627
(T627M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090292]
[ENSMUST00000169061]
|
| AlphaFold |
Q5HZJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090292
AA Change: T627M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: T627M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
499 |
N/A |
INTRINSIC |
|
SCOP:d1jfza_
|
878 |
902 |
4e-4 |
SMART |
|
RIBOc
|
942 |
1076 |
1.73e-45 |
SMART |
|
Blast:RIBOc
|
1086 |
1112 |
1e-6 |
BLAST |
|
RIBOc
|
1121 |
1253 |
1.6e-49 |
SMART |
|
DSRM
|
1260 |
1332 |
5.75e-20 |
SMART |
|
coiled coil region
|
1346 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121499
Gene: ENSMUSG00000022191
AA Change: T269M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
115 |
142 |
N/A |
INTRINSIC |
|
SCOP:d1jfza_
|
521 |
545 |
6e-4 |
SMART |
|
RIBOc
|
585 |
719 |
1.73e-45 |
SMART |
|
Blast:RIBOc
|
729 |
755 |
1e-6 |
BLAST |
|
RIBOc
|
764 |
896 |
1.6e-49 |
SMART |
|
DSRM
|
903 |
975 |
5.75e-20 |
SMART |
|
coiled coil region
|
988 |
1012 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150211
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169061
AA Change: T627M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: T627M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
499 |
N/A |
INTRINSIC |
|
SCOP:d1jfza_
|
878 |
902 |
4e-4 |
SMART |
|
RIBOc
|
942 |
1076 |
1.73e-45 |
SMART |
|
Blast:RIBOc
|
1086 |
1112 |
1e-6 |
BLAST |
|
RIBOc
|
1121 |
1253 |
1.6e-49 |
SMART |
|
DSRM
|
1260 |
1332 |
5.75e-20 |
SMART |
|
coiled coil region
|
1346 |
1370 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1984 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice heterozygous for a knock-out allele and a conditional allele activated in the immune system exhibit increased inflammation in multiple systems, cachexia and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
| Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
| B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
| Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
| Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
| Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
| Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
| H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
| Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
| Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
| Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
| Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
| Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
| Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
| Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
probably damaging |
Het |
|
| Other mutations in Drosha |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Drosha
|
APN |
15 |
12,883,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00736:Drosha
|
APN |
15 |
12,834,045 (GRCm39) |
missense |
unknown |
|
|
IGL00963:Drosha
|
APN |
15 |
12,926,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01010:Drosha
|
APN |
15 |
12,827,375 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01340:Drosha
|
APN |
15 |
12,834,109 (GRCm39) |
intron |
probably benign |
|
|
IGL01481:Drosha
|
APN |
15 |
12,842,525 (GRCm39) |
missense |
probably benign |
|
|
IGL01714:Drosha
|
APN |
15 |
12,878,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01721:Drosha
|
APN |
15 |
12,846,198 (GRCm39) |
nonsense |
probably null |
|
|
IGL01765:Drosha
|
APN |
15 |
12,902,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01893:Drosha
|
APN |
15 |
12,866,736 (GRCm39) |
splice site |
probably benign |
|
|
IGL01944:Drosha
|
APN |
15 |
12,889,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02285:Drosha
|
APN |
15 |
12,833,950 (GRCm39) |
missense |
unknown |
|
|
IGL02970:Drosha
|
APN |
15 |
12,914,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02990:Drosha
|
APN |
15 |
12,827,353 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03019:Drosha
|
APN |
15 |
12,846,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03279:Drosha
|
APN |
15 |
12,859,478 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03390:Drosha
|
APN |
15 |
12,885,069 (GRCm39) |
splice site |
probably null |
|
|
tippicanoe
|
UTSW |
15 |
12,859,551 (GRCm39) |
splice site |
probably null |
|
|
Tyler
|
UTSW |
15 |
12,861,792 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0115:Drosha
|
UTSW |
15 |
12,846,216 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0352:Drosha
|
UTSW |
15 |
12,837,374 (GRCm39) |
missense |
unknown |
|
|
R0401:Drosha
|
UTSW |
15 |
12,926,117 (GRCm39) |
nonsense |
probably null |
|
|
R0541:Drosha
|
UTSW |
15 |
12,907,474 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0784:Drosha
|
UTSW |
15 |
12,867,764 (GRCm39) |
splice site |
probably benign |
|
|
R0918:Drosha
|
UTSW |
15 |
12,842,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1473:Drosha
|
UTSW |
15 |
12,912,606 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1503:Drosha
|
UTSW |
15 |
12,848,159 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1526:Drosha
|
UTSW |
15 |
12,914,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Drosha
|
UTSW |
15 |
12,890,198 (GRCm39) |
missense |
probably null |
1.00 |
|
R1859:Drosha
|
UTSW |
15 |
12,878,804 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2004:Drosha
|
UTSW |
15 |
12,915,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2060:Drosha
|
UTSW |
15 |
12,924,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2516:Drosha
|
UTSW |
15 |
12,859,551 (GRCm39) |
splice site |
probably null |
|
|
R3691:Drosha
|
UTSW |
15 |
12,834,724 (GRCm39) |
missense |
unknown |
|
|
R3784:Drosha
|
UTSW |
15 |
12,890,615 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3789:Drosha
|
UTSW |
15 |
12,912,623 (GRCm39) |
nonsense |
probably null |
|
|
R3790:Drosha
|
UTSW |
15 |
12,912,623 (GRCm39) |
nonsense |
probably null |
|
|
R4020:Drosha
|
UTSW |
15 |
12,837,422 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4817:Drosha
|
UTSW |
15 |
12,914,133 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4989:Drosha
|
UTSW |
15 |
12,935,093 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5080:Drosha
|
UTSW |
15 |
12,842,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5132:Drosha
|
UTSW |
15 |
12,837,377 (GRCm39) |
missense |
unknown |
|
|
R5215:Drosha
|
UTSW |
15 |
12,885,219 (GRCm39) |
intron |
probably benign |
|
|
R5386:Drosha
|
UTSW |
15 |
12,842,207 (GRCm39) |
missense |
probably benign |
|
|
R5457:Drosha
|
UTSW |
15 |
12,926,115 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5536:Drosha
|
UTSW |
15 |
12,929,797 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5800:Drosha
|
UTSW |
15 |
12,902,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Drosha
|
UTSW |
15 |
12,935,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5988:Drosha
|
UTSW |
15 |
12,834,582 (GRCm39) |
intron |
probably benign |
|
|
R6033:Drosha
|
UTSW |
15 |
12,926,085 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6033:Drosha
|
UTSW |
15 |
12,926,085 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6063:Drosha
|
UTSW |
15 |
12,834,156 (GRCm39) |
intron |
probably benign |
|
|
R6391:Drosha
|
UTSW |
15 |
12,889,803 (GRCm39) |
nonsense |
probably null |
|
|
R6492:Drosha
|
UTSW |
15 |
12,861,792 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6799:Drosha
|
UTSW |
15 |
12,912,623 (GRCm39) |
nonsense |
probably null |
|
|
R6870:Drosha
|
UTSW |
15 |
12,907,479 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6920:Drosha
|
UTSW |
15 |
12,834,396 (GRCm39) |
missense |
unknown |
|
|
R7101:Drosha
|
UTSW |
15 |
12,865,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Drosha
|
UTSW |
15 |
12,924,232 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7275:Drosha
|
UTSW |
15 |
12,846,169 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7337:Drosha
|
UTSW |
15 |
12,846,285 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7471:Drosha
|
UTSW |
15 |
12,889,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Drosha
|
UTSW |
15 |
12,926,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Drosha
|
UTSW |
15 |
12,842,508 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7651:Drosha
|
UTSW |
15 |
12,859,522 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7652:Drosha
|
UTSW |
15 |
12,859,522 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7653:Drosha
|
UTSW |
15 |
12,859,522 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7727:Drosha
|
UTSW |
15 |
12,881,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Drosha
|
UTSW |
15 |
12,848,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8068:Drosha
|
UTSW |
15 |
12,883,276 (GRCm39) |
nonsense |
probably null |
|
|
R8283:Drosha
|
UTSW |
15 |
12,890,587 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8523:Drosha
|
UTSW |
15 |
12,834,408 (GRCm39) |
missense |
unknown |
|
|
R8985:Drosha
|
UTSW |
15 |
12,924,187 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9418:Drosha
|
UTSW |
15 |
12,885,167 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9501:Drosha
|
UTSW |
15 |
12,928,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Drosha
|
UTSW |
15 |
12,890,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Drosha
|
UTSW |
15 |
12,842,178 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGTAAACGTTTTGCCCAGG -3'
(R):5'- GGCACCAGAGCTACATCATAGTG -3'
Sequencing Primer
(F):5'- GTTTTGCCCAGGCTGCTC -3'
(R):5'- ATCATAGTGACCCTTCTGACAGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation