Incidental Mutation 'R1656:Dgcr8'
ID |
189138 |
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 |
039692-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1656 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
18071812-18107110 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18074577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 733
(S733G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009321]
[ENSMUST00000100099]
[ENSMUST00000115633]
[ENSMUST00000115640]
[ENSMUST00000140206]
[ENSMUST00000128045]
|
AlphaFold |
Q9EQM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009321
AA Change: S733G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000009321 Gene: ENSMUSG00000022718 AA Change: S733G
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 |
noncoding transcript
Transcript: ENSMUST00000147273
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153292
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131211
|
Predicted Effect |
unknown
Transcript: ENSMUST00000232144
AA Change: S67G
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128045
|
Meta Mutation Damage Score |
0.0707 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
96% (79/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024G13Rik |
A |
T |
14: 32,099,901 (GRCm39) |
I42N |
possibly damaging |
Het |
Adarb2 |
T |
A |
13: 8,253,287 (GRCm39) |
S11T |
unknown |
Het |
Adgrg1 |
C |
T |
8: 95,738,438 (GRCm39) |
Q644* |
probably null |
Het |
Akr1c18 |
T |
G |
13: 4,195,252 (GRCm39) |
I69L |
probably benign |
Het |
Anxa9 |
C |
T |
3: 95,207,884 (GRCm39) |
V219I |
probably benign |
Het |
Aqp9 |
T |
C |
9: 71,045,385 (GRCm39) |
T101A |
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,613,057 (GRCm39) |
R251W |
probably damaging |
Het |
Arl13b |
T |
A |
16: 62,627,007 (GRCm39) |
E231D |
possibly damaging |
Het |
Atosa |
C |
T |
9: 74,916,241 (GRCm39) |
A280V |
probably benign |
Het |
Bcl2l11 |
C |
T |
2: 128,000,176 (GRCm39) |
A173V |
probably benign |
Het |
Ccni |
A |
T |
5: 93,335,933 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,474,485 (GRCm39) |
E785G |
probably benign |
Het |
Cdk4 |
A |
G |
10: 126,900,849 (GRCm39) |
Y167C |
probably benign |
Het |
Clip1 |
A |
C |
5: 123,768,466 (GRCm39) |
V757G |
possibly damaging |
Het |
Ctsc |
T |
C |
7: 87,930,616 (GRCm39) |
V65A |
possibly damaging |
Het |
Cuedc2 |
G |
A |
19: 46,320,427 (GRCm39) |
S48L |
probably damaging |
Het |
Cyp39a1 |
T |
A |
17: 43,978,510 (GRCm39) |
M4K |
possibly damaging |
Het |
Dnhd1 |
T |
C |
7: 105,363,488 (GRCm39) |
S4017P |
probably damaging |
Het |
Ehbp1 |
A |
G |
11: 22,096,694 (GRCm39) |
I255T |
probably benign |
Het |
Fam83e |
T |
C |
7: 45,371,687 (GRCm39) |
V28A |
probably benign |
Het |
Fanci |
A |
G |
7: 79,054,936 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
T |
8: 45,478,567 (GRCm39) |
Q2538* |
probably null |
Het |
Fshr |
A |
G |
17: 89,508,009 (GRCm39) |
F11S |
unknown |
Het |
Gab1 |
G |
T |
8: 81,515,388 (GRCm39) |
P310Q |
probably damaging |
Het |
Galnt18 |
A |
G |
7: 111,215,699 (GRCm39) |
|
probably benign |
Het |
Gm28042 |
C |
A |
2: 119,869,370 (GRCm39) |
P355Q |
probably damaging |
Het |
H2-DMa |
A |
G |
17: 34,357,116 (GRCm39) |
T205A |
possibly damaging |
Het |
Hnf4g |
A |
T |
3: 3,718,011 (GRCm39) |
D420V |
probably benign |
Het |
Ift70b |
T |
C |
2: 75,767,760 (GRCm39) |
K331R |
probably benign |
Het |
Il1b |
A |
G |
2: 129,207,989 (GRCm39) |
V164A |
probably damaging |
Het |
Irf4 |
C |
A |
13: 30,941,485 (GRCm39) |
H279Q |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,409,364 (GRCm39) |
T203A |
possibly damaging |
Het |
Lsamp |
C |
T |
16: 41,775,682 (GRCm39) |
P178S |
probably damaging |
Het |
Mcm6 |
T |
C |
1: 128,277,155 (GRCm39) |
S223G |
possibly damaging |
Het |
Misp |
G |
T |
10: 79,661,777 (GRCm39) |
V65L |
possibly damaging |
Het |
Mov10 |
A |
G |
3: 104,706,912 (GRCm39) |
V666A |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
Myef2 |
G |
T |
2: 124,939,860 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,303,216 (GRCm39) |
I1079N |
probably damaging |
Het |
Nisch |
G |
T |
14: 30,899,228 (GRCm39) |
|
probably benign |
Het |
Obox7 |
T |
C |
7: 14,399,346 (GRCm39) |
S191P |
probably benign |
Het |
Or11h7 |
T |
C |
14: 50,891,465 (GRCm39) |
V257A |
probably benign |
Het |
Or13p10 |
A |
G |
4: 118,523,385 (GRCm39) |
I224V |
probably damaging |
Het |
Or14c40 |
C |
T |
7: 86,313,331 (GRCm39) |
L154F |
probably benign |
Het |
Or1j11 |
G |
A |
2: 36,311,658 (GRCm39) |
V83M |
probably benign |
Het |
Or5w14 |
A |
T |
2: 87,541,422 (GRCm39) |
V276D |
possibly damaging |
Het |
Or7d9 |
A |
G |
9: 20,197,873 (GRCm39) |
R301G |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,333 (GRCm39) |
S492P |
possibly damaging |
Het |
Phyh |
A |
T |
2: 4,943,164 (GRCm39) |
N337I |
probably damaging |
Het |
Poteg |
A |
T |
8: 27,985,060 (GRCm39) |
|
probably benign |
Het |
Prag1 |
G |
T |
8: 36,571,500 (GRCm39) |
K694N |
probably damaging |
Het |
Proser2 |
C |
T |
2: 6,107,870 (GRCm39) |
E49K |
probably damaging |
Het |
Pskh1 |
T |
C |
8: 106,656,389 (GRCm39) |
V355A |
possibly damaging |
Het |
Psmc2 |
T |
C |
5: 22,004,549 (GRCm39) |
V182A |
possibly damaging |
Het |
Rbfox1 |
A |
G |
16: 7,124,333 (GRCm39) |
|
probably benign |
Het |
Slc26a7 |
A |
T |
4: 14,621,221 (GRCm39) |
I55K |
possibly damaging |
Het |
Slc5a8 |
G |
A |
10: 88,761,648 (GRCm39) |
|
probably null |
Het |
Slitrk3 |
T |
C |
3: 72,957,672 (GRCm39) |
R367G |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spata31 |
A |
G |
13: 65,068,953 (GRCm39) |
E367G |
probably benign |
Het |
Srrm3 |
A |
T |
5: 135,863,892 (GRCm39) |
|
probably null |
Het |
Ssmem1 |
T |
C |
6: 30,517,507 (GRCm39) |
S6P |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,821,034 (GRCm39) |
D6G |
probably benign |
Het |
Syt1 |
T |
C |
10: 108,419,776 (GRCm39) |
E295G |
probably damaging |
Het |
Tap2 |
A |
T |
17: 34,424,927 (GRCm39) |
I192F |
possibly damaging |
Het |
Tgoln1 |
C |
T |
6: 72,591,068 (GRCm39) |
R348H |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,134,389 (GRCm39) |
V1373I |
possibly damaging |
Het |
Tmc2 |
A |
G |
2: 130,089,854 (GRCm39) |
D613G |
possibly damaging |
Het |
Tmem62 |
T |
A |
2: 120,837,483 (GRCm39) |
Y597N |
probably benign |
Het |
Trhr2 |
T |
A |
8: 123,084,185 (GRCm39) |
T272S |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,372,198 (GRCm39) |
S3P |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,089,313 (GRCm39) |
I627N |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,478,076 (GRCm39) |
S3564P |
probably damaging |
Het |
Zfp467 |
T |
G |
6: 48,416,013 (GRCm39) |
E213A |
possibly damaging |
Het |
Zfp746 |
T |
G |
6: 48,041,411 (GRCm39) |
K437N |
probably damaging |
Het |
Zfp853 |
A |
G |
5: 143,274,840 (GRCm39) |
|
probably benign |
Het |
Zranb1 |
T |
A |
7: 132,551,496 (GRCm39) |
V49D |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGAAAGCACCAACTGTGCTAGAAC -3'
(R):5'- TACTGTGGCCTCCAAGCCAAGAAG -3'
Sequencing Primer
(F):5'- GGCCAACCTTACCTGGAAG -3'
(R):5'- ATGCTTTATCACAGGTAGGCCAC -3'
|
Posted On |
2014-05-09 |