Incidental Mutation 'R1587:Dgcr8'
| ID |
177596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgcr8
|
| Ensembl Gene |
ENSMUSG00000022718 |
| Gene Name |
DGCR8, microprocessor complex subunit |
| Synonyms |
D16Wis2, D16H22S788E, DiGeorge syndrome critical region gene 8, D16H22S1742E, Vo59c07, N41, Gy1 |
| MMRRC Submission |
039624-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1587 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
18071812-18107110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18098155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 412
(G412E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009321]
[ENSMUST00000115633]
[ENSMUST00000232424]
|
| AlphaFold |
Q9EQM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009321
AA Change: G412E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: G412E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
165 |
176 |
N/A |
INTRINSIC |
|
WW
|
302 |
334 |
7.26e-6 |
SMART |
|
low complexity region
|
411 |
421 |
N/A |
INTRINSIC |
|
DSRM
|
512 |
577 |
5.68e-10 |
SMART |
|
DSRM
|
620 |
685 |
8.26e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115633
|
| SMART Domains |
Protein: ENSMUSP00000111296
Gene: ENSMUSG00000022718
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
165 |
176 |
N/A |
INTRINSIC |
|
WW
|
302 |
334 |
7.26e-6 |
SMART |
|
low complexity region
|
411 |
421 |
N/A |
INTRINSIC |
|
DSRM
|
512 |
577 |
5.68e-10 |
SMART |
|
DSRM
|
620 |
685 |
8.26e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232476
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice heterozygous for a gene trap allele exhibit reduced dendritic spine number and dendritiic complexity along with abnormal prepulse inhibition and abnormal spatial working memory. Homozygous mice are embryonic lethal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,585 (GRCm39) |
S111T |
probably benign |
Het |
| Abhd2 |
A |
T |
7: 79,003,758 (GRCm39) |
H279L |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Agrn |
T |
C |
4: 156,263,897 (GRCm39) |
Q122R |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,230,184 (GRCm39) |
F1218I |
probably damaging |
Het |
| Bud13 |
C |
T |
9: 46,201,513 (GRCm39) |
P395S |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,783 (GRCm39) |
V225M |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,210,373 (GRCm39) |
S248T |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 110,027,757 (GRCm39) |
Q501K |
probably damaging |
Het |
| Cwc27 |
T |
C |
13: 104,929,145 (GRCm39) |
D266G |
probably benign |
Het |
| Cyp2d40 |
T |
A |
15: 82,645,334 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
G |
4: 115,467,731 (GRCm39) |
N238K |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,456,251 (GRCm39) |
L770P |
probably damaging |
Het |
| Disp2 |
C |
A |
2: 118,622,064 (GRCm39) |
A932D |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,922,572 (GRCm39) |
N291K |
possibly damaging |
Het |
| Dnajc7 |
A |
G |
11: 100,492,556 (GRCm39) |
I39T |
probably damaging |
Het |
| Elp1 |
G |
A |
4: 56,786,666 (GRCm39) |
Q426* |
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,296 (GRCm39) |
V316A |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,874,768 (GRCm39) |
T944I |
probably benign |
Het |
| Ezh2 |
T |
G |
6: 47,529,424 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,084,783 (GRCm39) |
I270F |
possibly damaging |
Het |
| Fancc |
A |
G |
13: 63,488,246 (GRCm39) |
F245L |
probably benign |
Het |
| Fzd7 |
G |
A |
1: 59,522,165 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Gm29394 |
A |
G |
15: 57,892,008 (GRCm39) |
*200Q |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,245,722 (GRCm39) |
|
probably null |
Het |
| Krt36 |
A |
T |
11: 99,993,128 (GRCm39) |
I449N |
probably damaging |
Het |
| Ldlr |
A |
T |
9: 21,649,209 (GRCm39) |
H328L |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,303,455 (GRCm39) |
N101S |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,306,650 (GRCm39) |
N321S |
probably benign |
Het |
| Mafk |
T |
C |
5: 139,785,900 (GRCm39) |
S33P |
probably damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,244,958 (GRCm39) |
Y831C |
probably damaging |
Het |
| Mfge8 |
T |
A |
7: 78,784,513 (GRCm39) |
I344F |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,867,061 (GRCm39) |
V1430A |
probably benign |
Het |
| Nbas |
G |
A |
12: 13,608,686 (GRCm39) |
R2154H |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,959 (GRCm39) |
R355H |
probably damaging |
Het |
| Noc4l |
T |
C |
5: 110,800,889 (GRCm39) |
T76A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,763 (GRCm39) |
C583S |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,113 (GRCm39) |
I318F |
probably damaging |
Het |
| Phf1 |
T |
A |
17: 27,156,466 (GRCm39) |
V536D |
probably damaging |
Het |
| Prpf4b |
C |
A |
13: 35,076,133 (GRCm39) |
A641D |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,182,334 (GRCm39) |
I433T |
probably benign |
Het |
| Resf1 |
G |
T |
6: 149,228,018 (GRCm39) |
V355F |
probably damaging |
Het |
| S100a3 |
G |
A |
3: 90,509,618 (GRCm39) |
E88K |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,687,108 (GRCm39) |
I31V |
probably benign |
Het |
| Son |
T |
A |
16: 91,456,606 (GRCm39) |
S1784R |
probably damaging |
Het |
| Srbd1 |
G |
T |
17: 86,292,865 (GRCm39) |
D901E |
probably damaging |
Het |
| St8sia6 |
C |
T |
2: 13,677,416 (GRCm39) |
D134N |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,047 (GRCm39) |
D423V |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,383 (GRCm39) |
S158P |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,002 (GRCm39) |
V785E |
probably damaging |
Het |
| Zfp143 |
A |
G |
7: 109,673,275 (GRCm39) |
D124G |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,754,484 (GRCm39) |
L54P |
probably damaging |
Het |
| Zfp324 |
G |
T |
7: 12,704,570 (GRCm39) |
S253I |
possibly damaging |
Het |
| Zfp59 |
A |
G |
7: 27,553,559 (GRCm39) |
E337G |
possibly damaging |
Het |
| Zfp663 |
G |
T |
2: 165,195,437 (GRCm39) |
Q261K |
probably benign |
Het |
| Zhx3 |
T |
C |
2: 160,623,613 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dgcr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Dgcr8
|
APN |
16 |
18,101,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01767:Dgcr8
|
APN |
16 |
18,096,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02349:Dgcr8
|
APN |
16 |
18,098,170 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02834:Dgcr8
|
APN |
16 |
18,090,623 (GRCm39) |
missense |
probably benign |
0.08 |
|
disneyland
|
UTSW |
16 |
18,077,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Dgcr8
|
UTSW |
16 |
18,077,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Dgcr8
|
UTSW |
16 |
18,074,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1866:Dgcr8
|
UTSW |
16 |
18,076,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Dgcr8
|
UTSW |
16 |
18,096,218 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2144:Dgcr8
|
UTSW |
16 |
18,102,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Dgcr8
|
UTSW |
16 |
18,098,094 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3773:Dgcr8
|
UTSW |
16 |
18,074,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4568:Dgcr8
|
UTSW |
16 |
18,098,258 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4783:Dgcr8
|
UTSW |
16 |
18,076,174 (GRCm39) |
nonsense |
probably null |
|
|
R4784:Dgcr8
|
UTSW |
16 |
18,076,174 (GRCm39) |
nonsense |
probably null |
|
|
R5138:Dgcr8
|
UTSW |
16 |
18,095,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5276:Dgcr8
|
UTSW |
16 |
18,101,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5476:Dgcr8
|
UTSW |
16 |
18,077,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Dgcr8
|
UTSW |
16 |
18,095,039 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5745:Dgcr8
|
UTSW |
16 |
18,098,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5771:Dgcr8
|
UTSW |
16 |
18,090,632 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6035:Dgcr8
|
UTSW |
16 |
18,076,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Dgcr8
|
UTSW |
16 |
18,076,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Dgcr8
|
UTSW |
16 |
18,098,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6190:Dgcr8
|
UTSW |
16 |
18,102,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6633:Dgcr8
|
UTSW |
16 |
18,102,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6786:Dgcr8
|
UTSW |
16 |
18,101,693 (GRCm39) |
nonsense |
probably null |
|
|
R7468:Dgcr8
|
UTSW |
16 |
18,077,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Dgcr8
|
UTSW |
16 |
18,076,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8733:Dgcr8
|
UTSW |
16 |
18,077,825 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8801:Dgcr8
|
UTSW |
16 |
18,098,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8805:Dgcr8
|
UTSW |
16 |
18,076,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Dgcr8
|
UTSW |
16 |
18,077,514 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9289:Dgcr8
|
UTSW |
16 |
18,098,079 (GRCm39) |
unclassified |
probably benign |
|
|
R9661:Dgcr8
|
UTSW |
16 |
18,098,579 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9697:Dgcr8
|
UTSW |
16 |
18,098,283 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Dgcr8
|
UTSW |
16 |
18,096,182 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAAGCAGAGGAAGGGCTTGTC -3'
(R):5'- TCTGGAGTCCCTGTATACCTGCAC -3'
Sequencing Primer
(F):5'- TGTATAGGCAAAAGTCCCCTCTC -3'
(R):5'- TGTCAGCTTGTCAGACAGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation