Incidental Mutation 'R3773:Dgcr8'
| ID |
273463 |
| 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 |
040749-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3773 (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 C
at 18074639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 712
(D712G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009321]
[ENSMUST00000100099]
[ENSMUST00000115633]
[ENSMUST00000115640]
[ENSMUST00000128045]
[ENSMUST00000140206]
|
| AlphaFold |
Q9EQM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009321
AA Change: D712G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: D712G
| 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: ENSMUST00000059696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100099
|
| SMART Domains |
Protein: ENSMUSP00000111303
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
|
RRM
|
64 |
132 |
1.37e-2 |
SMART |
|
coiled coil region
|
171 |
195 |
N/A |
INTRINSIC |
|
Pfam:tRNA_U5-meth_tr
|
380 |
579 |
1.2e-20 |
PFAM |
|
Pfam:PCMT
|
386 |
482 |
1.1e-8 |
PFAM |
|
Pfam:MTS
|
389 |
489 |
6.2e-9 |
PFAM |
|
Pfam:Methyltransf_4
|
397 |
497 |
4.2e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
420 |
546 |
6.2e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
422 |
523 |
9.3e-11 |
PFAM |
|
Pfam:Methyltransf_26
|
423 |
538 |
5.3e-12 |
PFAM |
|
Pfam:Methyltransf_25
|
426 |
511 |
3.5e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
427 |
487 |
5.6e-6 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000115640
|
| SMART Domains |
Protein: ENSMUSP00000111304
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
|
RRM
|
64 |
132 |
1.37e-2 |
SMART |
|
coiled coil region
|
171 |
195 |
N/A |
INTRINSIC |
|
Pfam:tRNA_U5-meth_tr
|
380 |
579 |
2.6e-20 |
PFAM |
|
Pfam:PCMT
|
386 |
482 |
3.4e-9 |
PFAM |
|
Pfam:MTS
|
392 |
489 |
1e-7 |
PFAM |
|
Pfam:Cons_hypoth95
|
405 |
542 |
2.7e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
420 |
547 |
2.1e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
422 |
526 |
2.9e-12 |
PFAM |
|
Pfam:Methyltransf_4
|
423 |
499 |
2.6e-7 |
PFAM |
|
Pfam:Methyltransf_25
|
426 |
511 |
1.3e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
427 |
489 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127239
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131211
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232144
AA Change: D46G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140206
|
| SMART Domains |
Protein: ENSMUSP00000121216
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
|
RRM
|
64 |
132 |
1.37e-2 |
SMART |
|
coiled coil region
|
171 |
195 |
N/A |
INTRINSIC |
|
Pfam:tRNA_U5-meth_tr
|
383 |
481 |
3.7e-8 |
PFAM |
|
Pfam:PCMT
|
386 |
481 |
1.5e-6 |
PFAM |
|
Pfam:MTS
|
389 |
493 |
2.5e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
420 |
491 |
1.5e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
422 |
508 |
4.1e-8 |
PFAM |
|
Pfam:Methyltransf_26
|
423 |
523 |
3.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232476
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145112
|
| SMART Domains |
Protein: ENSMUSP00000117026
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCMT
|
118 |
220 |
4.2e-7 |
PFAM |
|
Pfam:tRNA_U5-meth_tr
|
118 |
280 |
4e-16 |
PFAM |
|
Pfam:MTS
|
129 |
229 |
5.4e-6 |
PFAM |
|
Pfam:Cons_hypoth95
|
143 |
277 |
6.5e-5 |
PFAM |
|
Pfam:PrmA
|
146 |
234 |
2e-4 |
PFAM |
|
Pfam:Ubie_methyltran
|
148 |
223 |
1e-4 |
PFAM |
|
Pfam:Methyltransf_31
|
158 |
271 |
6.1e-14 |
PFAM |
|
Pfam:Methyltransf_18
|
160 |
263 |
8.3e-11 |
PFAM |
|
Pfam:Methyltransf_4
|
161 |
237 |
7.1e-5 |
PFAM |
|
Pfam:Methyltransf_26
|
161 |
274 |
2e-6 |
PFAM |
|
Pfam:Methyltransf_25
|
164 |
251 |
5.2e-7 |
PFAM |
|
Pfam:Methyltransf_11
|
165 |
227 |
9.4e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,532,046 (GRCm39) |
K899N |
probably benign |
Het |
| Acsbg3 |
T |
C |
17: 57,183,262 (GRCm39) |
M1T |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,647,162 (GRCm39) |
S3126L |
probably damaging |
Het |
| Apba3 |
C |
A |
10: 81,108,443 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
G |
T |
1: 152,632,556 (GRCm39) |
A195S |
probably benign |
Het |
| Asap3 |
C |
T |
4: 135,954,886 (GRCm39) |
T72I |
probably benign |
Het |
| Cand2 |
T |
A |
6: 115,762,178 (GRCm39) |
H201Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,594,913 (GRCm39) |
D16G |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,180 (GRCm39) |
K19E |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,743 (GRCm39) |
E263G |
probably benign |
Het |
| Cyp17a1 |
T |
G |
19: 46,658,162 (GRCm39) |
K250T |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dsg2 |
T |
C |
18: 20,724,919 (GRCm39) |
W442R |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,325 (GRCm39) |
G131R |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 63,989,264 (GRCm39) |
D270G |
probably damaging |
Het |
| Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,595,433 (GRCm39) |
E109D |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,321,663 (GRCm39) |
R999S |
probably damaging |
Het |
| Gak |
G |
A |
5: 108,730,538 (GRCm39) |
T956I |
probably benign |
Het |
| Gps2 |
T |
C |
11: 69,806,927 (GRCm39) |
F21L |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,283,158 (GRCm39) |
W303* |
probably null |
Het |
| Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Matk |
T |
A |
10: 81,094,131 (GRCm39) |
L21Q |
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,128,907 (GRCm39) |
V160A |
probably benign |
Het |
| Nhlrc4 |
T |
A |
17: 26,162,367 (GRCm39) |
K127* |
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,394,486 (GRCm39) |
V696I |
probably benign |
Het |
| Nup210l |
T |
G |
3: 90,027,201 (GRCm39) |
Y194* |
probably null |
Het |
| Or1j16 |
A |
T |
2: 36,530,333 (GRCm39) |
Y94F |
probably benign |
Het |
| Or2h2 |
G |
T |
17: 37,396,957 (GRCm39) |
Y33* |
probably null |
Het |
| Or7a41 |
G |
A |
10: 78,871,014 (GRCm39) |
C128Y |
possibly damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,568 (GRCm39) |
M136L |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,943 (GRCm39) |
V725D |
probably benign |
Het |
| Pes1 |
A |
G |
11: 3,925,548 (GRCm39) |
Y221C |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,266,535 (GRCm39) |
I603V |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,624,987 (GRCm39) |
E97G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,492,034 (GRCm39) |
D842G |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf26rt |
C |
T |
6: 76,473,942 (GRCm39) |
V225I |
probably benign |
Het |
| Rngtt |
T |
C |
4: 33,330,889 (GRCm39) |
I164T |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
| Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
| Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,918,061 (GRCm39) |
K605R |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
| Stxbp5 |
G |
A |
10: 9,644,671 (GRCm39) |
T960I |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,671,565 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,344,087 (GRCm39) |
R227W |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,805,893 (GRCm39) |
S1517P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,748,177 (GRCm39) |
S2492P |
probably damaging |
Het |
| Tsg101 |
T |
C |
7: 46,539,363 (GRCm39) |
*254W |
probably null |
Het |
| Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
| Upb1 |
T |
A |
10: 75,275,672 (GRCm39) |
|
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,351 (GRCm39) |
I142F |
probably benign |
Het |
| Vmn1r60 |
C |
A |
7: 5,547,710 (GRCm39) |
C130F |
possibly damaging |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,919 (GRCm39) |
D235G |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
| Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
| Zbed4 |
T |
C |
15: 88,665,050 (GRCm39) |
S373P |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,507,140 (GRCm39) |
L1047Q |
probably benign |
Het |
| Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
| Zfp61 |
T |
C |
7: 23,995,406 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTACAAGGAAGGGCTAATCCAG -3'
(R):5'- ACAGGGCTGTGCTTATACCC -3'
Sequencing Primer
(F):5'- GGTTCAGTAACTATGATATGTGCAG -3'
(R):5'- CTTTATCACAGGTAGGCCA -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation