Incidental Mutation 'R6182:Dgcr8'
| ID |
487059 |
| 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 |
044324-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
18071812-18107110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18098172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 406
(D406E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009321]
[ENSMUST00000115633]
[ENSMUST00000232424]
|
| AlphaFold |
Q9EQM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009321
AA Change: D406E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: D406E
| 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 |
noncoding transcript
Transcript: ENSMUST00000232476
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232424
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
C |
9: 90,074,489 (GRCm39) |
S884P |
probably benign |
Het |
| Akap13 |
C |
A |
7: 75,236,028 (GRCm39) |
A201E |
probably benign |
Het |
| Ces1f |
T |
G |
8: 93,983,124 (GRCm39) |
E540A |
probably benign |
Het |
| Chid1 |
T |
A |
7: 141,108,415 (GRCm39) |
M137L |
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,312,414 (GRCm39) |
T296A |
probably benign |
Het |
| Clec4f |
A |
G |
6: 83,622,284 (GRCm39) |
V519A |
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,159,009 (GRCm39) |
F41I |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,183,390 (GRCm39) |
D32G |
probably benign |
Het |
| Ctsl |
T |
C |
13: 64,515,786 (GRCm39) |
Y95C |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,036,005 (GRCm39) |
M302V |
probably benign |
Het |
| Cyp2c65 |
C |
G |
19: 39,049,606 (GRCm39) |
L45V |
probably benign |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 72,006,661 (GRCm39) |
Q693* |
probably null |
Het |
| Dock2 |
G |
T |
11: 34,179,476 (GRCm39) |
P1760Q |
probably damaging |
Het |
| Epb41l2 |
G |
A |
10: 25,383,715 (GRCm39) |
R940H |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,039,210 (GRCm39) |
D951A |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,723,078 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
A |
3: 53,555,390 (GRCm39) |
I1716F |
probably damaging |
Het |
| Fus |
A |
G |
7: 127,576,465 (GRCm39) |
D295G |
probably damaging |
Het |
| Gm5093 |
A |
G |
17: 46,750,568 (GRCm39) |
I153T |
probably benign |
Het |
| Gnptab |
T |
C |
10: 88,265,342 (GRCm39) |
V318A |
possibly damaging |
Het |
| Gpc2 |
T |
C |
5: 138,276,676 (GRCm39) |
D150G |
probably benign |
Het |
| Gsc2 |
A |
G |
16: 17,731,483 (GRCm39) |
*215R |
probably null |
Het |
| Hectd3 |
T |
C |
4: 116,857,476 (GRCm39) |
S552P |
probably damaging |
Het |
| Katnal1 |
C |
A |
5: 148,841,407 (GRCm39) |
K152N |
possibly damaging |
Het |
| Kcnh1 |
A |
T |
1: 191,873,361 (GRCm39) |
T16S |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,101 (GRCm39) |
D105G |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,874,564 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
G |
A |
1: 162,893,612 (GRCm39) |
Q188* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,246,469 (GRCm39) |
S81G |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,350,130 (GRCm39) |
M628L |
probably benign |
Het |
| Odad3 |
A |
G |
9: 21,901,698 (GRCm39) |
F553S |
probably damaging |
Het |
| Or1o1 |
T |
A |
17: 37,716,883 (GRCm39) |
I148K |
possibly damaging |
Het |
| Or5k1 |
A |
G |
16: 58,617,655 (GRCm39) |
Y185H |
probably damaging |
Het |
| Pals2 |
A |
G |
6: 50,175,206 (GRCm39) |
I506V |
probably benign |
Het |
| Pate4 |
A |
T |
9: 35,519,586 (GRCm39) |
S35T |
possibly damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,815,555 (GRCm39) |
E1452G |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,872,420 (GRCm39) |
D239G |
probably benign |
Het |
| Ppef2 |
C |
T |
5: 92,374,925 (GRCm39) |
V728M |
probably damaging |
Het |
| Rasip1 |
TGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGC |
7: 45,277,879 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
C |
A |
12: 104,115,690 (GRCm39) |
V285L |
probably benign |
Het |
| Serpinb9f |
T |
C |
13: 33,518,405 (GRCm39) |
S302P |
probably damaging |
Het |
| Sis |
C |
T |
3: 72,811,626 (GRCm39) |
V1642I |
probably benign |
Het |
| Slc12a4 |
G |
A |
8: 106,674,531 (GRCm39) |
L601F |
probably damaging |
Het |
| Slc39a6 |
G |
T |
18: 24,734,013 (GRCm39) |
N225K |
probably benign |
Het |
| Snrnp70 |
G |
A |
7: 45,026,497 (GRCm39) |
R291* |
probably null |
Het |
| Spin1 |
C |
T |
13: 51,298,374 (GRCm39) |
T131I |
probably benign |
Het |
| St18 |
T |
G |
1: 6,914,342 (GRCm39) |
|
probably null |
Het |
| Stox1 |
A |
G |
10: 62,500,721 (GRCm39) |
L613P |
probably damaging |
Het |
| Tgm3 |
T |
G |
2: 129,867,221 (GRCm39) |
Y155* |
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,051,402 (GRCm39) |
I809V |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,927,033 (GRCm39) |
D831V |
probably damaging |
Het |
| Ttll13 |
A |
T |
7: 79,909,981 (GRCm39) |
E762D |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,601,015 (GRCm39) |
V937E |
probably damaging |
Het |
| Vmn1r34 |
A |
G |
6: 66,614,312 (GRCm39) |
I142T |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,250,507 (GRCm39) |
M588T |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,957 (GRCm39) |
V761A |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,753,832 (GRCm39) |
G665W |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,442,163 (GRCm39) |
R550S |
probably damaging |
Het |
| Ydjc |
A |
G |
16: 16,964,943 (GRCm39) |
T33A |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,226,764 (GRCm39) |
T274A |
probably benign |
Het |
| Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,299,940 (GRCm39) |
C859S |
probably damaging |
Het |
| Zscan4c |
T |
C |
7: 10,740,709 (GRCm39) |
M76T |
probably benign |
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 |
|
R1587:Dgcr8
|
UTSW |
16 |
18,098,155 (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 |
|
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'- TAGGCAAAAGTCCCCTCTCAG -3'
(R):5'- CCGTTTCAATGTCACCATCTACAG -3'
Sequencing Primer
(F):5'- TCTCAGACACAACCAGGAACTAGG -3'
(R):5'- ACATGATCCTCCTCTAAGCAGTATC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation