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) question?
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

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: ENSMUST00000059696
Predicted Effect probably benign
Transcript: ENSMUST00000100099
SMART Domains Protein: ENSMUSP00000111303
Gene: ENSMUSG00000022721

DomainStartEndE-ValueType
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

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 probably benign
Transcript: ENSMUST00000115640
SMART Domains Protein: ENSMUSP00000111304
Gene: ENSMUSG00000022721

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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