Incidental Mutation 'IGL01767:Dgcr8'
ID153352
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 #IGL01767
Quality Score
Status
Chromosome16
Chromosomal Location18253948-18289246 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 18278336 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 496 (D496V)
Ref Sequence ENSEMBL: ENSMUSP00000009321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009321] [ENSMUST00000115633]
Predicted Effect probably damaging
Transcript: ENSMUST00000009321
AA Change: D496V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: D496V

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: ENSMUST00000128856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232476
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,041,363 V4505A probably benign Het
Aadat A T 8: 60,507,092 D31V probably damaging Het
Acaca A T 11: 84,320,542 Y1560F probably benign Het
Actl7a A G 4: 56,743,980 E169G probably damaging Het
Adgrb3 A G 1: 25,559,814 V270A probably benign Het
Adgre4 G A 17: 55,797,740 V269I probably benign Het
Ankhd1 A G 18: 36,648,374 T2160A probably damaging Het
Bnip2 T A 9: 70,002,116 probably benign Het
Casp16-ps A G 17: 23,552,053 V126A probably damaging Het
Ccser1 C A 6: 61,718,152 T157K probably benign Het
Cdh23 A G 10: 60,315,724 S2459P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 C21S probably damaging Het
Chmp6 G A 11: 119,916,986 E72K probably benign Het
Cldn23 T C 8: 35,825,662 Y224C probably damaging Het
Cry1 C T 10: 85,146,474 G336D probably damaging Het
Cyp4f17 T A 17: 32,506,982 F30I probably benign Het
Dhx9 A G 1: 153,468,868 probably benign Het
Dnah10 C T 5: 124,743,737 probably benign Het
Dock9 T C 14: 121,622,870 E880G possibly damaging Het
Dscam A G 16: 96,654,936 V1264A probably damaging Het
Eno1 T C 4: 150,246,710 Y270H probably benign Het
Eprs A G 1: 185,384,915 D385G probably damaging Het
Ercc2 A G 7: 19,390,421 Y215C probably damaging Het
Fam208b G A 13: 3,576,633 P1106S probably benign Het
Fscn2 A G 11: 120,367,750 N400S possibly damaging Het
Fuca1 C T 4: 135,939,201 T449I probably benign Het
Gm43638 T C 5: 87,465,431 K492E probably damaging Het
Gm4778 T A 3: 94,266,484 D262E probably benign Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm8122 T C 14: 43,232,701 T111A unknown Het
Gtf3c2 T A 5: 31,157,635 N923Y probably benign Het
Il17a T A 1: 20,733,640 D86E probably benign Het
Itgb2l G T 16: 96,430,575 N330K probably benign Het
Kcnj11 T C 7: 46,099,065 H278R probably benign Het
Khdrbs2 T A 1: 32,619,176 Y272* probably null Het
Kndc1 A T 7: 139,930,046 Q1267L probably damaging Het
Loxhd1 T A 18: 77,286,424 F64I possibly damaging Het
Lrig2 T A 3: 104,491,545 K222N probably benign Het
Lrrcc1 T A 3: 14,547,272 Y378N probably damaging Het
Mblac2 T C 13: 81,750,315 L270P probably damaging Het
Med13 A T 11: 86,319,783 I511N probably benign Het
Myo3a A T 2: 22,423,222 E763D probably damaging Het
Olfr1240 C T 2: 89,439,800 V160I probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1447 T A 19: 12,901,748 T11S probably benign Het
Olfr384 T A 11: 73,603,032 F151I probably benign Het
Olfr845 G A 9: 19,339,302 V281I possibly damaging Het
Plxna4 T A 6: 32,237,678 I623F possibly damaging Het
Ppp2ca T A 11: 52,118,055 Y127* probably null Het
Psg18 A G 7: 18,353,397 V112A possibly damaging Het
Ptprj A T 2: 90,469,574 N108K probably benign Het
Rictor A G 15: 6,777,384 Y707C probably damaging Het
Rptn T C 3: 93,395,639 F93S probably benign Het
Rxrg T A 1: 167,627,315 C156S probably damaging Het
Slc24a4 T C 12: 102,223,687 probably benign Het
Slc25a27 C T 17: 43,664,073 probably null Het
Slx4 T C 16: 3,990,248 K481E probably benign Het
Snx19 T C 9: 30,463,264 W940R possibly damaging Het
Tcf20 G A 15: 82,856,008 P414L probably damaging Het
Treml2 T C 17: 48,302,810 V90A probably benign Het
Uckl1 C T 2: 181,569,534 V501M probably damaging Het
Unc79 C T 12: 103,141,997 T1937I probably damaging Het
Vmn2r17 A T 5: 109,420,037 I9F probably benign Het
Vmn2r44 T C 7: 8,380,238 H119R probably benign Het
Vmn2r78 A G 7: 86,954,435 D607G probably benign Het
Vps13a C T 19: 16,663,894 G2288D probably damaging Het
Znfx1 G T 2: 167,055,723 T427N probably damaging Het
Other mutations in Dgcr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Dgcr8 APN 16 18283944 missense probably damaging 1.00
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 On2014-02-04