Incidental Mutation 'IGL01525:Dgcr8'
ID89525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgcr8
Ensembl Gene ENSMUSG00000022718
Gene NameDGCR8, microprocessor complex subunit
SynonymsGy1, D16H22S788E, D16Wis2, D16H22S1742E, Vo59c07, N41
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01525
Quality Score
Status
Chromosome16
Chromosomal Location18253948-18289246 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18283944 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 158 (D158G)
Ref Sequence ENSEMBL: ENSMUSP00000009321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009321] [ENSMUST00000115633] [ENSMUST00000232424]
Predicted Effect probably damaging
Transcript: ENSMUST00000009321
AA Change: D158G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: D158G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000232414
Predicted Effect probably benign
Transcript: ENSMUST00000232424
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,586,835 E322G probably damaging Het
Aldh8a1 A T 10: 21,391,573 I286F probably damaging Het
Arnt2 T A 7: 84,275,408 T404S possibly damaging Het
Asb1 A G 1: 91,552,124 T190A probably damaging Het
Atp8b1 G A 18: 64,539,252 R1014* probably null Het
Dock5 A G 14: 67,805,720 probably benign Het
Fras1 C T 5: 96,739,336 T2659I probably damaging Het
Galt A G 4: 41,756,068 T45A probably benign Het
Gtpbp3 A G 8: 71,490,434 D164G probably damaging Het
Kmt2c T A 5: 25,329,441 probably benign Het
Lrrc59 A T 11: 94,634,696 Q106L probably damaging Het
Mgat4c A G 10: 102,378,196 I13M probably damaging Het
Muc19 T A 15: 91,886,683 noncoding transcript Het
Myo5b C T 18: 74,740,549 A1508V probably damaging Het
Olfr1167 T C 2: 88,149,877 I47M probably benign Het
Olfr1394 A G 11: 49,160,674 Y220C probably damaging Het
Olfr600 T A 7: 103,346,179 I250F probably benign Het
Plxna2 A G 1: 194,712,311 E500G probably benign Het
Psme4 T A 11: 30,809,936 probably benign Het
S100a8 A T 3: 90,669,569 S10C probably damaging Het
Sdk1 T C 5: 141,999,920 V769A probably damaging Het
Sorbs1 G T 19: 40,349,978 T326K probably damaging Het
Spata31d1b T C 13: 59,712,466 I51T probably benign Het
Thumpd3 T C 6: 113,047,636 S64P probably damaging Het
Ticrr T C 7: 79,682,449 L843P probably damaging Het
Ttc30b A T 2: 75,936,882 M509K probably damaging Het
Ttn A T 2: 76,810,764 I13587N probably damaging Het
Txndc2 A G 17: 65,638,913 S90P possibly damaging Het
Other mutations in Dgcr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Dgcr8 APN 16 18278336 missense probably damaging 0.98
IGL02349:Dgcr8 APN 16 18280306 missense possibly damaging 0.67
IGL02834:Dgcr8 APN 16 18272759 missense probably benign 0.08
disneyland UTSW 16 18259623 missense probably damaging 1.00
R1558:Dgcr8 UTSW 16 18259588 missense probably damaging 1.00
R1587:Dgcr8 UTSW 16 18280291 missense probably damaging 1.00
R1656:Dgcr8 UTSW 16 18256713 missense probably benign 0.00
R1866:Dgcr8 UTSW 16 18258314 missense probably damaging 1.00
R1886:Dgcr8 UTSW 16 18278354 missense possibly damaging 0.95
R2144:Dgcr8 UTSW 16 18284256 missense probably damaging 1.00
R2145:Dgcr8 UTSW 16 18280230 missense probably benign 0.26
R3773:Dgcr8 UTSW 16 18256775 missense probably damaging 0.99
R4568:Dgcr8 UTSW 16 18280394 missense probably benign 0.14
R4783:Dgcr8 UTSW 16 18258310 nonsense probably null
R4784:Dgcr8 UTSW 16 18258310 nonsense probably null
R5138:Dgcr8 UTSW 16 18278077 missense probably damaging 0.99
R5276:Dgcr8 UTSW 16 18283771 missense probably benign 0.01
R5476:Dgcr8 UTSW 16 18259979 missense probably damaging 1.00
R5510:Dgcr8 UTSW 16 18277175 missense probably damaging 0.98
R5745:Dgcr8 UTSW 16 18280443 missense probably benign 0.01
R5771:Dgcr8 UTSW 16 18272768 missense probably benign 0.25
R6035:Dgcr8 UTSW 16 18258314 missense probably damaging 1.00
R6035:Dgcr8 UTSW 16 18258314 missense probably damaging 1.00
R6182:Dgcr8 UTSW 16 18280308 missense probably benign 0.00
R6190:Dgcr8 UTSW 16 18284410 missense probably damaging 0.97
R6633:Dgcr8 UTSW 16 18284182 missense possibly damaging 0.94
R6786:Dgcr8 UTSW 16 18283829 nonsense probably null
R7468:Dgcr8 UTSW 16 18259623 missense probably damaging 1.00
Z1176:Dgcr8 UTSW 16 18278318 critical splice donor site probably null
Posted On2013-12-03