Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Dgcr8'

366767

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

042416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18071812-18107110 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 18076174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 4 (R4*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009321] [ENSMUST00000100099] [ENSMUST00000115633] [ENSMUST00000115640] [ENSMUST00000128045] [ENSMUST00000140206]

AlphaFold

Q9EQM6

Predicted Effect

probably null
Transcript: ENSMUST00000009321
AA Change: R670*

SMART Domains

Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: R670*

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: ENSMUST00000059696

Predicted Effect

probably benign
Transcript: ENSMUST00000100099

SMART Domains

Protein: ENSMUSP00000111303
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	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

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: ENSMUST00000115640

SMART Domains

Protein: ENSMUSP00000111304
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	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

probably benign
Transcript: ENSMUST00000128045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147273

Predicted Effect

probably benign
Transcript: ENSMUST00000232293

Predicted Effect

probably null
Transcript: ENSMUST00000232144
AA Change: R4*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232476

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: ENSMUST00000232015

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,310,198 (GRCm39)	R54*	probably null	Het
Acsl6	A	T	11: 54,227,819 (GRCm39)	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,243,564 (GRCm39)	T6279A	probably damaging	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Ascc2	G	A	11: 4,596,653 (GRCm39)	R58H	probably benign	Het
Brinp3	A	G	1: 146,603,378 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccdc47	T	A	11: 106,094,430 (GRCm39)	H7L	probably benign	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Cdr2	A	T	7: 120,557,644 (GRCm39)	F294I	probably benign	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,948,209 (GRCm39)	T156I	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Emsy	T	C	7: 98,295,686 (GRCm39)	N72S	possibly damaging	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189 (GRCm39)	V318A	probably damaging	Het
Git1	T	G	11: 77,390,663 (GRCm39)	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915 (GRCm39)	M213I	probably benign	Het
Gm7233	A	G	14: 43,037,423 (GRCm39)	E25G	probably benign	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,069,398 (GRCm39)	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,802,701 (GRCm39)	T66M	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lrrc7	A	G	3: 157,832,850 (GRCm39)		probably null	Het
Mapk11	T	C	15: 89,033,691 (GRCm39)	Y9C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myh13	A	T	11: 67,232,096 (GRCm39)	I459F	probably damaging	Het
Nalf1	T	C	8: 9,258,026 (GRCm39)	Y374C	probably damaging	Het
Nedd4l	C	A	18: 65,305,998 (GRCm39)	D424E	probably damaging	Het
Nid1	C	T	13: 13,674,326 (GRCm39)	R902W	probably damaging	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Numa1	A	G	7: 101,662,773 (GRCm39)	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Nxf1	G	A	19: 8,744,162 (GRCm39)	A339T	probably benign	Het
Oas1b	C	A	5: 120,952,578 (GRCm39)	Q90K	probably benign	Het
Optn	T	C	2: 5,059,438 (GRCm39)	M27V	probably benign	Het
Or1r1	A	G	11: 73,874,834 (GRCm39)	F200S	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5ac17	G	T	16: 59,036,222 (GRCm39)	F251L	probably damaging	Het
Or5d45	A	G	2: 88,153,500 (GRCm39)	I183T	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Or5h18	G	T	16: 58,848,260 (GRCm39)	D3E	probably benign	Het
Oxgr1	T	C	14: 120,259,776 (GRCm39)	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086 (GRCm39)	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,529,599 (GRCm39)		probably null	Het
Pdxk	A	G	10: 78,300,626 (GRCm39)	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,017,060 (GRCm39)	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,557,117 (GRCm39)		probably null	Het
Psmd1	A	G	1: 86,006,434 (GRCm39)	N267D	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rasal3	T	A	17: 32,615,755 (GRCm39)	D361V	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,730,102 (GRCm39)	D182G	probably damaging	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Rilp	C	T	11: 75,401,467 (GRCm39)	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,681,645 (GRCm39)	V332A	probably benign	Het
Sbpl	T	A	17: 24,172,304 (GRCm39)	D205V	unknown	Het
Scn9a	T	C	2: 66,370,967 (GRCm39)	I538V	probably benign	Het
Serpina1d	T	C	12: 103,734,083 (GRCm39)	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,375,369 (GRCm39)	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,532,472 (GRCm39)	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,821,260 (GRCm39)	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,071,317 (GRCm39)		probably null	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Snx13	T	A	12: 35,148,285 (GRCm39)	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,062,125 (GRCm39)	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,709,537 (GRCm39)	I67N	probably damaging	Het
Thbs1	T	C	2: 117,945,273 (GRCm39)	V282A	probably benign	Het
Tmc8	A	G	11: 117,682,431 (GRCm39)		probably null	Het
Trim11	T	A	11: 58,879,750 (GRCm39)	F284Y	probably null	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,149,044 (GRCm39)	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 87,039,332 (GRCm39)	E443G	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,955,396 (GRCm39)		noncoding transcript	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,234,379 (GRCm39)	V611E	probably damaging	Het
Vmn2r97	A	T	17: 19,149,550 (GRCm39)	M313L	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,308,684 (GRCm39)	F451I	possibly damaging	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
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
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'- ACCCTTGGCTTGCACAATCAC -3'
(R):5'- TGGTACCTGGGTCAAGATCTC -3'

Sequencing Primer
(F):5'- GGCTTGCACAATCACTTCCATAG -3'
(R):5'- TACCTGGGTCAAGATCTCAGGACTC -3'

Posted On

2015-12-29