Incidental Mutation 'R8733:Dgcr8'
| ID |
662886 |
| 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 |
068581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18071812-18107110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18077825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 603
(I603V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009321]
|
| AlphaFold |
Q9EQM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009321
AA Change: I603V
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: I603V
| 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: ENSMUST00000232144
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,249,627 (GRCm39) |
L1106P |
probably damaging |
Het |
| Alx3 |
C |
G |
3: 107,512,135 (GRCm39) |
P258A |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,582,128 (GRCm39) |
T607A |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,111 (GRCm39) |
V644E |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,875,472 (GRCm39) |
K499E |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,923 (GRCm39) |
H1464L |
probably damaging |
Het |
| Chrne |
A |
G |
11: 70,507,856 (GRCm39) |
L281P |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,379,472 (GRCm39) |
|
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,600,279 (GRCm39) |
F13L |
possibly damaging |
Het |
| Dhx16 |
A |
G |
17: 36,192,267 (GRCm39) |
D102G |
probably benign |
Het |
| Dnm1 |
G |
T |
2: 32,206,987 (GRCm39) |
D564E |
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,534,178 (GRCm39) |
Y93N |
probably damaging |
Het |
| Esp31 |
A |
G |
17: 38,955,509 (GRCm39) |
I51V |
probably benign |
Het |
| Grap |
G |
T |
11: 61,562,517 (GRCm39) |
A163S |
possibly damaging |
Het |
| Hgs |
G |
A |
11: 120,360,954 (GRCm39) |
|
probably null |
Het |
| Icosl |
A |
T |
10: 77,909,697 (GRCm39) |
N214I |
probably damaging |
Het |
| Ints6 |
G |
A |
14: 62,934,297 (GRCm39) |
P737S |
probably benign |
Het |
| Irag1 |
C |
T |
7: 110,477,425 (GRCm39) |
V564M |
probably benign |
Het |
| Lima1 |
A |
G |
15: 99,678,699 (GRCm39) |
S581P |
probably damaging |
Het |
| Lrfn2 |
G |
A |
17: 49,403,824 (GRCm39) |
R649H |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,532 (GRCm39) |
T3493A |
possibly damaging |
Het |
| Mup4 |
A |
T |
4: 59,958,587 (GRCm39) |
N104K |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,633,766 (GRCm39) |
V424A |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,115,116 (GRCm39) |
I161F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,579 (GRCm39) |
D18E |
possibly damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,985 (GRCm39) |
I173V |
probably benign |
Het |
| Otop1 |
G |
A |
5: 38,457,117 (GRCm39) |
R292H |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,457,796 (GRCm39) |
C518* |
probably null |
Het |
| Parp3 |
C |
T |
9: 106,353,150 (GRCm39) |
V9M |
probably benign |
Het |
| Pcdhb20 |
C |
T |
18: 37,638,437 (GRCm39) |
A321V |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,714,426 (GRCm39) |
Q311* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,883,657 (GRCm39) |
V855D |
|
Het |
| Polr2k |
T |
A |
15: 36,176,913 (GRCm39) |
D97E |
probably benign |
Het |
| Psmd11 |
A |
G |
11: 80,325,342 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,266,683 (GRCm39) |
T631M |
probably damaging |
Het |
| Ralgps1 |
C |
A |
2: 33,174,836 (GRCm39) |
|
probably null |
Het |
| Rbm18 |
A |
G |
2: 36,024,211 (GRCm39) |
S17P |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,065,515 (GRCm39) |
L49F |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,059,036 (GRCm39) |
S63P |
possibly damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,944 (GRCm39) |
I672L |
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,591,954 (GRCm39) |
T270A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,100,303 (GRCm39) |
L479P |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,450,061 (GRCm39) |
M187V |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,610,710 (GRCm39) |
T191S |
possibly damaging |
Het |
| Slu7 |
G |
A |
11: 43,334,167 (GRCm39) |
V398M |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,451 (GRCm39) |
T136A |
probably benign |
Het |
| Sqstm1 |
G |
T |
11: 50,101,493 (GRCm39) |
P31Q |
possibly damaging |
Het |
| Trappc11 |
A |
T |
8: 47,954,883 (GRCm39) |
V885D |
probably damaging |
Het |
| Trav6-1 |
T |
A |
14: 52,876,213 (GRCm39) |
Y44* |
probably null |
Het |
| Trav9-2 |
T |
A |
14: 53,828,755 (GRCm39) |
C42S |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,593,168 (GRCm39) |
T194A |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,769,104 (GRCm39) |
V375A |
probably 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 |
|
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'- AGAGGGCTACTATACGAACAAGTC -3'
(R):5'- TTCCCAAATAGTTCCATCAGGG -3'
Sequencing Primer
(F):5'- CCCTAGATGTTCAGCAGACTATGG -3'
(R):5'- TCCATCAGGGATATCTGGAATATGGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation