Incidental Mutation 'R8801:Dgcr8'
| ID |
671519 |
| 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 |
068611-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8801 (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 G
at 18098500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 334
(F334S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009321]
[ENSMUST00000232424]
|
| AlphaFold |
Q9EQM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009321
AA Change: F334S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: F334S
| 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 |
probably benign
Transcript: ENSMUST00000232424
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,808,972 (GRCm39) |
V100I |
unknown |
Het |
| Acta2 |
G |
T |
19: 34,229,207 (GRCm39) |
Q61K |
probably damaging |
Het |
| Adamts20 |
T |
G |
15: 94,258,490 (GRCm39) |
D357A |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,009,452 (GRCm39) |
F798S |
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,791,438 (GRCm39) |
V779A |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,103 (GRCm39) |
P1466T |
probably benign |
Het |
| B3gnt2 |
T |
C |
11: 22,787,002 (GRCm39) |
E62G |
probably damaging |
Het |
| Bcan |
A |
C |
3: 87,904,582 (GRCm39) |
V58G |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,810,339 (GRCm39) |
Q66R |
probably damaging |
Het |
| Cdh6 |
G |
A |
15: 13,044,847 (GRCm39) |
T425I |
probably damaging |
Het |
| Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,457,195 (GRCm39) |
Y3554C |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,321,024 (GRCm39) |
H262L |
possibly damaging |
Het |
| Dipk1c |
T |
C |
18: 84,757,617 (GRCm39) |
S234P |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,022 (GRCm39) |
T497A |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,381,502 (GRCm39) |
V2749A |
possibly damaging |
Het |
| Esr1 |
A |
G |
10: 4,916,270 (GRCm39) |
N486D |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,287,021 (GRCm39) |
T213A |
probably damaging |
Het |
| Fbxo41 |
T |
A |
6: 85,461,663 (GRCm39) |
E15V |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,938,188 (GRCm39) |
A188T |
possibly damaging |
Het |
| Frk |
C |
T |
10: 34,423,402 (GRCm39) |
S160F |
possibly damaging |
Het |
| Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
C |
2: 155,406,686 (GRCm39) |
Y432C |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,423,298 (GRCm39) |
F5I |
unknown |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Klf12 |
T |
G |
14: 100,260,172 (GRCm39) |
I186L |
probably benign |
Het |
| Klrg1 |
C |
T |
6: 122,248,342 (GRCm39) |
V186I |
probably benign |
Het |
| Loxl3 |
G |
T |
6: 83,025,629 (GRCm39) |
W329L |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,835,595 (GRCm39) |
V1759E |
probably benign |
Het |
| Mlph |
G |
A |
1: 90,870,609 (GRCm39) |
V507I |
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,075,086 (GRCm39) |
T470M |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,888,373 (GRCm39) |
Y175H |
possibly damaging |
Het |
| Nedd4l |
A |
G |
18: 65,288,346 (GRCm39) |
E2G |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,009,393 (GRCm39) |
|
probably benign |
Het |
| Optc |
A |
G |
1: 133,832,819 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,383,727 (GRCm39) |
V247A |
probably benign |
Het |
| Oxtr |
T |
A |
6: 112,466,873 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,758,305 (GRCm39) |
R1463G |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,059,438 (GRCm39) |
Y383C |
probably benign |
Het |
| Psmc3ip |
T |
C |
11: 100,984,617 (GRCm39) |
N76S |
probably benign |
Het |
| Reln |
T |
A |
5: 22,155,854 (GRCm39) |
M2213L |
possibly damaging |
Het |
| Rock1 |
T |
C |
18: 10,070,260 (GRCm39) |
D1271G |
probably damaging |
Het |
| Rprd1a |
T |
G |
18: 24,641,280 (GRCm39) |
E112A |
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,411,384 (GRCm39) |
D391V |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,185,737 (GRCm39) |
H314L |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,127,853 (GRCm39) |
S1269T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,308,335 (GRCm39) |
E740G |
probably damaging |
Het |
| Tcaf1 |
T |
A |
6: 42,663,742 (GRCm39) |
Q46L |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,173,618 (GRCm39) |
A21T |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,985 (GRCm39) |
L286H |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,822,848 (GRCm39) |
T721A |
probably benign |
Het |
| Vps41 |
T |
C |
13: 18,998,403 (GRCm39) |
S241P |
possibly damaging |
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 |
|
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 |
|
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'- GGCAAGATCACAGTTTTGTTCTCG -3'
(R):5'- GAGGCTTTGACACAGTCTTATGC -3'
Sequencing Primer
(F):5'- TTTCTTATAATGTAGGCAGGGGATAC -3'
(R):5'- TGCTTATAAAGGATTTGCAGGATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation