Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Dgcr8'

208768

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

039889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18071812-18107110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18076178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 2 (N2K)

Gene Model

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

AlphaFold

Q9EQM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000009321
AA Change: N668K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: N668K

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: ENSMUST00000147273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153292

Predicted Effect

probably damaging
Transcript: ENSMUST00000232144
AA Change: N2K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: ENSMUST00000232476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232015

Predicted Effect

probably benign
Transcript: ENSMUST00000232293

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,077,225 (GRCm39)	Q661K	probably benign	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mapk7	A	G	11: 61,380,239 (GRCm39)	F671L	probably benign	Het
Mau2	A	G	8: 70,484,142 (GRCm39)	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pcx	T	C	19: 4,671,249 (GRCm39)	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Prom2	T	C	2: 127,378,514 (GRCm39)	D460G	probably damaging	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,839,157 (GRCm39)	E858D	probably benign	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zc3h7a	A	G	16: 10,965,168 (GRCm39)	I655T	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	probably 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
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'- TGGCTTGCACAATCACTTCC -3'
(R):5'- GTTGGTACCTGGGTCAAGATC -3'

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

Posted On

2014-06-30