Incidental Mutation 'R6633:Dgcr8'
ID 525347
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 044755-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6633 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 18071812-18107110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18102046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 79 (S79T)
Ref Sequence ENSEMBL: ENSMUSP00000155858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009321] [ENSMUST00000115633] [ENSMUST00000232424]
AlphaFold Q9EQM6
Predicted Effect possibly damaging
Transcript: ENSMUST00000009321
AA Change: S79T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: S79T

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 possibly damaging
Transcript: ENSMUST00000232424
AA Change: S79T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175505
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C A 11: 84,402,308 (GRCm39) probably null Het
Acot7 C T 4: 152,262,716 (GRCm39) P30L probably benign Het
Adam24 T G 8: 41,133,526 (GRCm39) D331E probably benign Het
Adamdec1 T C 14: 68,810,601 (GRCm39) D185G probably benign Het
Adgrg7 T C 16: 56,550,649 (GRCm39) I688V probably benign Het
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Agtr1a A G 13: 30,565,450 (GRCm39) I172V probably benign Het
Anapc4 C T 5: 53,023,288 (GRCm39) H710Y possibly damaging Het
Arf1 T C 11: 59,103,370 (GRCm39) N179S probably benign Het
Arhgef40 C T 14: 52,234,888 (GRCm39) P1064S probably damaging Het
Btnl1 A G 17: 34,604,305 (GRCm39) N362S possibly damaging Het
Ccdc80 T C 16: 44,915,271 (GRCm39) F9S possibly damaging Het
Ccdc96 G A 5: 36,642,533 (GRCm39) E180K probably benign Het
Cdh2 A T 18: 16,773,605 (GRCm39) N241K probably benign Het
Cdk8 C A 5: 146,235,656 (GRCm39) S261* probably null Het
Csf2rb2 T C 15: 78,173,152 (GRCm39) E236G probably benign Het
Dnah5 A T 15: 28,293,933 (GRCm39) Y1346F probably benign Het
Dock6 A G 9: 21,731,627 (GRCm39) V1194A probably benign Het
Dock6 A G 9: 21,732,799 (GRCm39) S1129P probably damaging Het
Ephb2 C G 4: 136,411,307 (GRCm39) S451T probably benign Het
Esco1 T A 18: 10,595,738 (GRCm39) probably benign Het
Fcer1a C G 1: 173,054,293 (GRCm39) probably null Het
Gbx2 TCCCCC TCCCCCC 1: 89,856,442 (GRCm39) probably null Het
Gm44511 T A 6: 128,803,205 (GRCm39) D2V probably damaging Het
H2-Q2 A G 17: 35,561,363 (GRCm39) T19A probably damaging Het
Herc1 G T 9: 66,346,534 (GRCm39) E1967* probably null Het
Hic1 G T 11: 75,060,324 (GRCm39) H8N unknown Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Jarid2 C A 13: 45,038,353 (GRCm39) H84N probably damaging Het
Klk1b27 A T 7: 43,705,234 (GRCm39) I134F probably damaging Het
Kprp T C 3: 92,732,600 (GRCm39) Y150C probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrp10 T C 14: 54,706,531 (GRCm39) V489A probably benign Het
Mrgpra6 A G 7: 46,838,493 (GRCm39) I235T possibly damaging Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Naip1 C T 13: 100,559,593 (GRCm39) R1137Q probably benign Het
Or4c12 T C 2: 89,773,710 (GRCm39) I250V probably benign Het
Plcl2 A G 17: 50,947,168 (GRCm39) I1016V probably benign Het
Plekhb1 A G 7: 100,294,846 (GRCm39) Y122H probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Rag1 T A 2: 101,473,055 (GRCm39) R696W probably damaging Het
Rusc2 T C 4: 43,414,852 (GRCm39) F53L probably damaging Het
Rxylt1 G A 10: 121,932,958 (GRCm39) R7W probably damaging Het
Tango6 T C 8: 107,444,637 (GRCm39) V514A probably benign Het
Tex30 A C 1: 44,127,084 (GRCm39) H64Q probably benign Het
Tmbim7 A G 5: 3,707,659 (GRCm39) probably null Het
Tpcn1 A G 5: 120,682,529 (GRCm39) M493T probably benign Het
Tpx2 T G 2: 152,709,274 (GRCm39) F35V probably damaging Het
Vmn1r3 G A 4: 3,184,971 (GRCm39) T112I probably benign Het
Wnt2b T C 3: 104,858,372 (GRCm39) Y299C probably damaging 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
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
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'- GTGTACAGCACCTTCCTGTC -3'
(R):5'- TGGAGACATATGAGAGTCCCTC -3'

Sequencing Primer
(F):5'- CCTTACTCCTGCAGCTCTCAGTAAAG -3'
(R):5'- CGATGATGGAGAACCGAGCTTG -3'
Posted On 2018-06-22