Incidental Mutation 'R5745:Dgcr8'
| ID |
445768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgcr8
|
| Ensembl Gene |
ENSMUSG00000022718 |
| Gene Name |
DGCR8, microprocessor complex subunit |
| Synonyms |
Gy1, D16H22S788E, D16Wis2, D16H22S1742E, Vo59c07, N41 |
| MMRRC Submission |
043198-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5745 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
18253948-18289246 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18280443 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 361
(N361K)
|
| 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: N361K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: N361K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,364,073 |
R74W |
probably damaging |
Het |
| 4933407L21Rik |
T |
G |
1: 85,931,274 |
|
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,920,471 |
I212N |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 65,098,457 |
T879A |
probably damaging |
Het |
| Copb2 |
T |
C |
9: 98,574,111 |
S233P |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,630,437 |
M330K |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,846,586 |
E96G |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,130,397 |
N830K |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 102,195,434 |
D49N |
probably benign |
Het |
| Fam19a1 |
G |
A |
6: 96,649,185 |
R128Q |
probably damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,571,389 |
I514V |
probably benign |
Het |
| Fpr1 |
A |
G |
17: 17,877,082 |
I215T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,353,502 |
V3668M |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,253,768 |
I68L |
probably benign |
Het |
| Intu |
A |
G |
3: 40,692,972 |
|
probably null |
Het |
| Kel |
C |
T |
6: 41,699,027 |
G243E |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,156,453 |
S2781A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,122,705 |
S1211T |
probably benign |
Het |
| Nrp1 |
A |
T |
8: 128,468,448 |
I462F |
probably benign |
Het |
| Olfr787 |
T |
A |
10: 129,463,438 |
I254N |
probably damaging |
Het |
| Olfr958 |
T |
C |
9: 39,550,691 |
Y60C |
probably damaging |
Het |
| Pcsk1 |
A |
C |
13: 75,131,960 |
S635R |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,207,702 |
Y280* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,920 |
|
probably benign |
Het |
| Sema3b |
C |
A |
9: 107,601,429 |
A356S |
probably damaging |
Het |
| Shoc2 |
C |
A |
19: 54,029,892 |
T485K |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,377,835 |
S235L |
possibly damaging |
Het |
| Smcr8 |
A |
T |
11: 60,784,151 |
T918S |
probably benign |
Het |
| Tle3 |
C |
A |
9: 61,414,851 |
F719L |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,483,075 |
I405L |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,448,471 |
H57Q |
possibly damaging |
Het |
|
| Other mutations in Dgcr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Dgcr8
|
APN |
16 |
18283944 |
missense |
probably damaging |
1.00 |
|
IGL01767:Dgcr8
|
APN |
16 |
18278336 |
missense |
probably damaging |
0.98 |
|
IGL02349:Dgcr8
|
APN |
16 |
18280306 |
missense |
possibly damaging |
0.67 |
|
IGL02834:Dgcr8
|
APN |
16 |
18272759 |
missense |
probably benign |
0.08 |
|
disneyland
|
UTSW |
16 |
18259623 |
missense |
probably damaging |
1.00 |
|
R1558:Dgcr8
|
UTSW |
16 |
18259588 |
missense |
probably damaging |
1.00 |
|
R1587:Dgcr8
|
UTSW |
16 |
18280291 |
missense |
probably damaging |
1.00 |
|
R1656:Dgcr8
|
UTSW |
16 |
18256713 |
missense |
probably benign |
0.00 |
|
R1866:Dgcr8
|
UTSW |
16 |
18258314 |
missense |
probably damaging |
1.00 |
|
R1886:Dgcr8
|
UTSW |
16 |
18278354 |
missense |
possibly damaging |
0.95 |
|
R2144:Dgcr8
|
UTSW |
16 |
18284256 |
missense |
probably damaging |
1.00 |
|
R2145:Dgcr8
|
UTSW |
16 |
18280230 |
missense |
probably benign |
0.26 |
|
R3773:Dgcr8
|
UTSW |
16 |
18256775 |
missense |
probably damaging |
0.99 |
|
R4568:Dgcr8
|
UTSW |
16 |
18280394 |
missense |
probably benign |
0.14 |
|
R4783:Dgcr8
|
UTSW |
16 |
18258310 |
nonsense |
probably null |
|
|
R4784:Dgcr8
|
UTSW |
16 |
18258310 |
nonsense |
probably null |
|
|
R5138:Dgcr8
|
UTSW |
16 |
18278077 |
missense |
probably damaging |
0.99 |
|
R5276:Dgcr8
|
UTSW |
16 |
18283771 |
missense |
probably benign |
0.01 |
|
R5476:Dgcr8
|
UTSW |
16 |
18259979 |
missense |
probably damaging |
1.00 |
|
R5510:Dgcr8
|
UTSW |
16 |
18277175 |
missense |
probably damaging |
0.98 |
|
R5771:Dgcr8
|
UTSW |
16 |
18272768 |
missense |
probably benign |
0.25 |
|
R6035:Dgcr8
|
UTSW |
16 |
18258314 |
missense |
probably damaging |
1.00 |
|
R6035:Dgcr8
|
UTSW |
16 |
18258314 |
missense |
probably damaging |
1.00 |
|
R6182:Dgcr8
|
UTSW |
16 |
18280308 |
missense |
probably benign |
0.00 |
|
R6190:Dgcr8
|
UTSW |
16 |
18284410 |
missense |
probably damaging |
0.97 |
|
R6633:Dgcr8
|
UTSW |
16 |
18284182 |
missense |
possibly damaging |
0.94 |
|
R6786:Dgcr8
|
UTSW |
16 |
18283829 |
nonsense |
probably null |
|
|
R7468:Dgcr8
|
UTSW |
16 |
18259623 |
missense |
probably damaging |
1.00 |
|
R8325:Dgcr8
|
UTSW |
16 |
18258285 |
missense |
probably damaging |
1.00 |
|
R8733:Dgcr8
|
UTSW |
16 |
18259961 |
missense |
probably benign |
0.03 |
|
R8801:Dgcr8
|
UTSW |
16 |
18280636 |
missense |
probably damaging |
0.98 |
|
R8805:Dgcr8
|
UTSW |
16 |
18258297 |
missense |
probably damaging |
1.00 |
|
R9014:Dgcr8
|
UTSW |
16 |
18259650 |
missense |
possibly damaging |
0.83 |
|
R9289:Dgcr8
|
UTSW |
16 |
18280215 |
unclassified |
probably benign |
|
|
R9661:Dgcr8
|
UTSW |
16 |
18280715 |
missense |
possibly damaging |
0.53 |
|
R9697:Dgcr8
|
UTSW |
16 |
18280419 |
missense |
probably benign |
|
|
Z1176:Dgcr8
|
UTSW |
16 |
18278318 |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACACCTCAACTTTAGCC -3'
(R):5'- CCCTACTTCTTGGGAACAGG -3'
Sequencing Primer
(F):5'- AGCCTTCACTTGTCCCAGGG -3'
(R):5'- TCTTGGGAACAGGAAGCATAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation