Incidental Mutation 'IGL01525:Dgcr8'
| ID |
89525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01525
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
18071812-18107110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18101808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 158
(D158G)
|
| 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: D158G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: D158G
| 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: ENSMUST00000134431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232424
|
| Coding Region Coverage |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,458,684 (GRCm39) |
E322G |
probably damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,267,472 (GRCm39) |
I286F |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,616 (GRCm39) |
T404S |
possibly damaging |
Het |
| Asb1 |
A |
G |
1: 91,479,846 (GRCm39) |
T190A |
probably damaging |
Het |
| Atp8b1 |
G |
A |
18: 64,672,323 (GRCm39) |
R1014* |
probably null |
Het |
| Dock5 |
A |
G |
14: 68,043,169 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,887,195 (GRCm39) |
T2659I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,756,068 (GRCm39) |
T45A |
probably benign |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,078 (GRCm39) |
D164G |
probably damaging |
Het |
| Ift70b |
A |
T |
2: 75,767,226 (GRCm39) |
M509K |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,534,439 (GRCm39) |
|
probably benign |
Het |
| Lrrc59 |
A |
T |
11: 94,525,522 (GRCm39) |
Q106L |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,214,057 (GRCm39) |
I13M |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,770,877 (GRCm39) |
|
noncoding transcript |
Het |
| Myo5b |
C |
T |
18: 74,873,620 (GRCm39) |
A1508V |
probably damaging |
Het |
| Or2o1 |
A |
G |
11: 49,051,501 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or52ad1 |
T |
A |
7: 102,995,386 (GRCm39) |
I250F |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,221 (GRCm39) |
I47M |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,394,619 (GRCm39) |
E500G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,759,936 (GRCm39) |
|
probably benign |
Het |
| S100a8 |
A |
T |
3: 90,576,876 (GRCm39) |
S10C |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,985,675 (GRCm39) |
V769A |
probably damaging |
Het |
| Sorbs1 |
G |
T |
19: 40,338,422 (GRCm39) |
T326K |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,860,280 (GRCm39) |
I51T |
probably benign |
Het |
| Thumpd3 |
T |
C |
6: 113,024,597 (GRCm39) |
S64P |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,332,197 (GRCm39) |
L843P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,108 (GRCm39) |
I13587N |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,945,908 (GRCm39) |
S90P |
possibly damaging |
Het |
|
| Other mutations in Dgcr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation