Incidental Mutation 'R1558:Dgcr8'
| ID |
170451 |
| 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 |
039597-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1558 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
18071812-18107110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18077452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 653
(Y653N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009321]
[ENSMUST00000115633]
[ENSMUST00000140206]
|
| AlphaFold |
Q9EQM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009321
AA Change: Y653N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: Y653N
| 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 |
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: ENSMUST00000144536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232476
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
A |
4: 53,092,887 (GRCm39) |
Q299L |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,692 (GRCm39) |
K399N |
possibly damaging |
Het |
| Alox12b |
T |
C |
11: 69,056,711 (GRCm39) |
F369S |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,483,301 (GRCm39) |
Y236H |
probably benign |
Het |
| Ankrd36 |
T |
C |
11: 5,585,329 (GRCm39) |
L380P |
probably damaging |
Het |
| Atp2a1 |
C |
T |
7: 126,051,844 (GRCm39) |
A468T |
possibly damaging |
Het |
| Caprin1 |
A |
T |
2: 103,606,332 (GRCm39) |
F303I |
possibly damaging |
Het |
| Casp7 |
A |
T |
19: 56,421,684 (GRCm39) |
R41* |
probably null |
Het |
| Ccdc66 |
T |
A |
14: 27,208,463 (GRCm39) |
H753L |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,742,671 (GRCm39) |
M166T |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,923,337 (GRCm39) |
M538K |
possibly damaging |
Het |
| Cemip2 |
T |
A |
19: 21,775,346 (GRCm39) |
Y196* |
probably null |
Het |
| Cercam |
G |
A |
2: 29,766,251 (GRCm39) |
A345T |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,537,954 (GRCm39) |
C60* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,289,542 (GRCm39) |
G125S |
probably damaging |
Het |
| Defb7 |
A |
G |
8: 19,547,567 (GRCm39) |
D24G |
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,183,208 (GRCm39) |
D70G |
probably damaging |
Het |
| Erich3 |
T |
G |
3: 154,419,705 (GRCm39) |
N266K |
probably damaging |
Het |
| Fastk |
A |
T |
5: 24,649,045 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,135 (GRCm39) |
N676S |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,739 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,523,463 (GRCm39) |
T1149A |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,073,068 (GRCm39) |
V483A |
probably damaging |
Het |
| Fpgs |
T |
C |
2: 32,575,852 (GRCm39) |
T364A |
possibly damaging |
Het |
| Gm12185 |
A |
G |
11: 48,806,262 (GRCm39) |
S310P |
probably damaging |
Het |
| Gm15056 |
A |
T |
8: 21,391,949 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,112,112 (GRCm39) |
V692A |
unknown |
Het |
| Izumo3 |
A |
C |
4: 92,035,140 (GRCm39) |
C26G |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,474 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnj6 |
T |
C |
16: 94,563,358 (GRCm39) |
E380G |
possibly damaging |
Het |
| Kdm3b |
A |
G |
18: 34,942,149 (GRCm39) |
T747A |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,258,622 (GRCm39) |
G1370R |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,991,334 (GRCm39) |
R504Q |
probably damaging |
Het |
| Mgat4f |
G |
A |
1: 134,318,512 (GRCm39) |
G428D |
probably damaging |
Het |
| Mipol1 |
T |
C |
12: 57,379,127 (GRCm39) |
I195T |
probably damaging |
Het |
| Ncor2 |
G |
A |
5: 125,110,610 (GRCm39) |
T1350I |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,800,705 (GRCm39) |
E43G |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,603 (GRCm39) |
I273F |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,459 (GRCm39) |
N41K |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,760,200 (GRCm39) |
N263K |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,634 (GRCm39) |
L200P |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,258,756 (GRCm39) |
H570Y |
possibly damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,679 (GRCm39) |
I708F |
probably benign |
Het |
| Pkd1l2 |
A |
C |
8: 117,808,991 (GRCm39) |
D66E |
possibly damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,108,467 (GRCm39) |
D1170G |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,190,143 (GRCm39) |
H672L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,479,904 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Ptrhd1 |
A |
G |
12: 4,286,505 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pwwp3a |
G |
T |
10: 80,068,778 (GRCm39) |
R307S |
probably benign |
Het |
| Riok1 |
G |
T |
13: 38,234,831 (GRCm39) |
R300L |
probably damaging |
Het |
| Sbf2 |
G |
T |
7: 110,027,553 (GRCm39) |
T481K |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,863,098 (GRCm39) |
M11K |
probably damaging |
Het |
| Slc66a1 |
A |
T |
4: 139,027,391 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,299,280 (GRCm39) |
R992* |
probably null |
Het |
| Tmem8b |
C |
A |
4: 43,681,134 (GRCm39) |
R384S |
possibly damaging |
Het |
| Trim28 |
T |
C |
7: 12,761,761 (GRCm39) |
Y243H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,764,192 (GRCm39) |
M266T |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,539,437 (GRCm39) |
S368T |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttc6 |
G |
A |
12: 57,733,132 (GRCm39) |
V1092I |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,534,465 (GRCm39) |
T927I |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,140,730 (GRCm39) |
T259I |
unknown |
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 |
|
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 |
|
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'- TCCTCAGGAAAGCAGTCCCCTTATC -3'
(R):5'- AGTGTGTGGAGAGCCTTCCATAGTC -3'
Sequencing Primer
(F):5'- GGAGGATAACCACCTATCTAGTTTC -3'
(R):5'- CCATAGTCTGCTGAACATCTAGGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation