Incidental Mutation 'R5276:Dgcr8'
ID |
403973 |
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 |
042863-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5276 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
18071812-18107110 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 18101635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 216
(T216P)
|
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: T216P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000009321 Gene: ENSMUSG00000022718 AA Change: T216P
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 |
probably benign
Transcript: ENSMUST00000232424
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232414
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
G |
8: 44,023,457 (GRCm39) |
F11S |
probably benign |
Het |
Adipor2 |
T |
A |
6: 119,334,182 (GRCm39) |
I343F |
probably damaging |
Het |
Ahdc1 |
C |
T |
4: 132,790,109 (GRCm39) |
P450L |
possibly damaging |
Het |
Akna |
A |
C |
4: 63,286,440 (GRCm39) |
V1353G |
possibly damaging |
Het |
Baz2b |
G |
A |
2: 59,792,958 (GRCm39) |
T390I |
probably benign |
Het |
Btbd7 |
T |
C |
12: 102,804,651 (GRCm39) |
K130E |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,965,415 (GRCm39) |
Y1101C |
probably damaging |
Het |
Crlf2 |
T |
G |
5: 109,705,501 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
A |
T |
1: 136,347,186 (GRCm39) |
R281S |
probably damaging |
Het |
Dsg4 |
A |
T |
18: 20,579,896 (GRCm39) |
I34F |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,685,814 (GRCm39) |
S194P |
probably damaging |
Het |
Entpd8 |
C |
T |
2: 24,975,057 (GRCm39) |
R463W |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,255,004 (GRCm39) |
T407A |
probably benign |
Het |
Fam98b |
G |
T |
2: 117,089,779 (GRCm39) |
V99F |
possibly damaging |
Het |
Foxn3 |
T |
A |
12: 99,162,687 (GRCm39) |
K405* |
probably null |
Het |
Gsdmc |
T |
C |
15: 63,673,806 (GRCm39) |
T160A |
probably benign |
Het |
Hdac1 |
T |
C |
4: 129,422,716 (GRCm39) |
|
probably null |
Het |
Igfbp1 |
A |
C |
11: 7,151,892 (GRCm39) |
T232P |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,573,478 (GRCm39) |
H744Q |
probably damaging |
Het |
Mertk |
G |
C |
2: 128,643,234 (GRCm39) |
G878R |
possibly damaging |
Het |
Metap2 |
G |
T |
10: 93,704,784 (GRCm39) |
P281H |
possibly damaging |
Het |
Metap2 |
T |
A |
10: 93,704,794 (GRCm39) |
T278S |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,618,354 (GRCm39) |
V169A |
probably benign |
Het |
Mms22l |
A |
G |
4: 24,578,774 (GRCm39) |
D751G |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,312,918 (GRCm39) |
V138A |
probably benign |
Het |
Myef2 |
T |
A |
2: 124,937,641 (GRCm39) |
K533N |
probably damaging |
Het |
Mylk3 |
C |
T |
8: 86,082,071 (GRCm39) |
G309E |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,643,157 (GRCm39) |
V365A |
probably damaging |
Het |
Or4d2 |
A |
T |
11: 87,784,018 (GRCm39) |
I244N |
probably damaging |
Het |
Or5p57 |
A |
T |
7: 107,665,423 (GRCm39) |
L164* |
probably null |
Het |
Or7d10 |
C |
A |
9: 19,831,917 (GRCm39) |
N137K |
possibly damaging |
Het |
Or8g19 |
T |
C |
9: 39,055,611 (GRCm39) |
C72R |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,828,141 (GRCm39) |
K1323E |
probably damaging |
Het |
Pcdhga12 |
G |
A |
18: 37,899,728 (GRCm39) |
D187N |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
A |
G |
5: 20,977,195 (GRCm39) |
V608A |
probably benign |
Het |
Plec |
G |
A |
15: 76,057,638 (GRCm39) |
R4122W |
probably damaging |
Het |
Polm |
A |
G |
11: 5,779,393 (GRCm39) |
S441P |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,104,734 (GRCm39) |
V1404E |
probably benign |
Het |
Ptger1 |
T |
G |
8: 84,395,974 (GRCm39) |
S344A |
possibly damaging |
Het |
Rasef |
A |
T |
4: 73,654,004 (GRCm39) |
D401E |
probably null |
Het |
Rbfox3 |
T |
C |
11: 118,387,178 (GRCm39) |
Y312C |
probably damaging |
Het |
Rbm48 |
A |
G |
5: 3,634,759 (GRCm39) |
C402R |
probably benign |
Het |
Rhbdl3 |
G |
A |
11: 80,210,492 (GRCm39) |
A82T |
probably benign |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sidt2 |
T |
A |
9: 45,866,075 (GRCm39) |
N44Y |
probably damaging |
Het |
Slf2 |
T |
A |
19: 44,923,600 (GRCm39) |
L138Q |
possibly damaging |
Het |
Spag16 |
T |
C |
1: 69,935,742 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
T |
6: 48,467,401 (GRCm39) |
P4188S |
probably damaging |
Het |
Synm |
C |
T |
7: 67,384,437 (GRCm39) |
S1075N |
probably benign |
Het |
Tacc2 |
G |
T |
7: 130,331,047 (GRCm39) |
D2151Y |
probably damaging |
Het |
Tbc1d32 |
C |
A |
10: 56,027,914 (GRCm39) |
L729F |
probably damaging |
Het |
Tnfsf4 |
A |
G |
1: 161,244,584 (GRCm39) |
N91S |
possibly damaging |
Het |
Trim63 |
G |
A |
4: 134,050,444 (GRCm39) |
E243K |
probably benign |
Het |
Trim72 |
T |
G |
7: 127,603,714 (GRCm39) |
L20R |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,217 (GRCm39) |
M300V |
probably damaging |
Het |
Ubfd1 |
C |
T |
7: 121,668,091 (GRCm39) |
A207V |
probably damaging |
Het |
Usp16 |
T |
A |
16: 87,267,339 (GRCm39) |
|
probably null |
Het |
Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,387,462 (GRCm39) |
I701F |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,769,232 (GRCm39) |
Y2078H |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,153,958 (GRCm39) |
|
probably null |
Het |
Zfp955b |
A |
G |
17: 33,522,031 (GRCm39) |
Y500C |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAAGGCTCAATGTTAGCCAAAC -3'
(R):5'- TTAGTCCTGTCAGTGGGGAC -3'
Sequencing Primer
(F):5'- AGCCAAACTTTCTACTGAGGATC -3'
(R):5'- GGACGTGCATGCTTGTCC -3'
|
Posted On |
2016-07-22 |