Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Dgcr8'

672028

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

068642-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18071812-18107110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18076161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 674 (Q674L)

Ref Sequence

ENSEMBL: ENSMUSP00000009321 (fasta)

Gene Model

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

AlphaFold

Q9EQM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000009321
AA Change: Q674L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: Q674L

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: 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

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

probably benign
Transcript: ENSMUST00000128045

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

probably benign
Transcript: ENSMUST00000232293

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,226,737 (GRCm39)	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,313,285 (GRCm39)		probably benign	Het
Actl6b	G	A	5: 137,552,918 (GRCm39)	M82I	probably benign	Het
Bmp2	T	A	2: 133,403,254 (GRCm39)	D268E	probably damaging	Het
Cacng7	T	A	7: 3,415,298 (GRCm39)	L221H	probably damaging	Het
Ccser2	A	G	14: 36,601,712 (GRCm39)	V224A	probably damaging	Het
Cdc40	A	G	10: 40,733,576 (GRCm39)	F125L	probably damaging	Het
Cfap46	C	T	7: 139,211,979 (GRCm39)	A1669T	unknown	Het
Cfap58	A	T	19: 47,941,535 (GRCm39)	E301V	probably damaging	Het
Clcn2	C	A	16: 20,532,168 (GRCm39)	G96C	probably damaging	Het
Cotl1	T	A	8: 120,536,944 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,216,110 (GRCm39)	A812T	probably damaging	Het
Cracd	T	C	5: 77,006,489 (GRCm39)	V950A	unknown	Het
Crnkl1	T	C	2: 145,773,350 (GRCm39)		probably null	Het
Cry1	A	G	10: 84,992,969 (GRCm39)	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,540,530 (GRCm39)	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,327,462 (GRCm39)	F425L	probably damaging	Het
Dek	A	T	13: 47,252,930 (GRCm39)	N158K	unknown	Het
Dlec1	C	A	9: 118,941,650 (GRCm39)	S345R	probably benign	Het
Dnah7b	T	A	1: 46,273,305 (GRCm39)	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,361,963 (GRCm39)	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,862,227 (GRCm39)	L186M		Het
Fn1	T	C	1: 71,644,239 (GRCm39)	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,813,453 (GRCm39)	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,681,042 (GRCm39)	V238A	probably damaging	Het
Gm9611	T	C	14: 42,116,657 (GRCm39)	D131G		Het
Gpatch8	T	C	11: 102,371,018 (GRCm39)	E840G	unknown	Het
Grm5	G	A	7: 87,453,176 (GRCm39)	R271Q	probably damaging	Het
Has3	A	T	8: 107,601,135 (GRCm39)	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Il2	T	A	3: 37,177,282 (GRCm39)	T85S	possibly damaging	Het
Kank4	T	C	4: 98,668,273 (GRCm39)	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,905,379 (GRCm39)	I154F	probably damaging	Het
Krt1c	T	C	15: 101,724,379 (GRCm39)	K295R	possibly damaging	Het
Lipm	A	T	19: 34,090,308 (GRCm39)	D163V	probably damaging	Het
Lpl	A	G	8: 69,340,215 (GRCm39)	N70S	probably damaging	Het
Mgme1	A	G	2: 144,114,451 (GRCm39)		probably benign	Het
Mnd1	T	A	3: 83,995,432 (GRCm39)	E187D	probably benign	Het
Morn5	A	G	2: 35,969,533 (GRCm39)	D149G	probably benign	Het
Mrrf	G	A	2: 36,037,965 (GRCm39)	V79I	probably damaging	Het
Msh4	T	A	3: 153,563,270 (GRCm39)	Q896L	probably benign	Het
Mtus2	A	C	5: 148,015,303 (GRCm39)	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,803,880 (GRCm39)	C130S	unknown	Het
Ntn5	A	T	7: 45,333,899 (GRCm39)	Y4F	probably benign	Het
Or7e174	T	C	9: 20,012,580 (GRCm39)	V175A	probably benign	Het
Osm	A	G	11: 4,189,839 (GRCm39)	S208G	probably benign	Het
Pcsk6	T	A	7: 65,578,891 (GRCm39)	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,390,104 (GRCm39)	E486G	probably benign	Het
Pdzk1	T	A	3: 96,758,910 (GRCm39)	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,435,155 (GRCm39)	S524T	probably benign	Het
Prkd1	T	A	12: 50,435,156 (GRCm39)	S524C	probably damaging	Het
Rab4b	T	C	7: 26,874,148 (GRCm39)	I90V		Het
Rc3h1	T	C	1: 160,795,222 (GRCm39)	V1083A	probably benign	Het
Rfx7	C	T	9: 72,524,316 (GRCm39)	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,702,558 (GRCm39)	Y332C	probably damaging	Het
Senp2	A	G	16: 21,846,789 (GRCm39)	T265A	probably benign	Het
Slc38a3	T	C	9: 107,532,345 (GRCm39)	M396V	probably benign	Het
Sord	G	A	2: 122,094,607 (GRCm39)	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,344,653 (GRCm39)		probably benign	Het
Star	G	A	8: 26,299,577 (GRCm39)	R53H	probably benign	Het
Stard4	T	G	18: 33,336,749 (GRCm39)	I189L	possibly damaging	Het
Stk38	G	T	17: 29,219,094 (GRCm39)	T7K	probably benign	Het
Stxbp5	T	A	10: 9,713,859 (GRCm39)	K227*	probably null	Het
Taf4b	C	T	18: 14,946,485 (GRCm39)	P436L	possibly damaging	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Tmem158	A	G	9: 123,089,309 (GRCm39)	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281 (GRCm39)	S77P	probably benign	Het
Ttn	A	T	2: 76,720,307 (GRCm39)	L6973*	probably null	Het
Tubal3	T	C	13: 3,983,293 (GRCm39)	F358L	probably damaging	Het
Tut4	T	C	4: 108,406,575 (GRCm39)	V1381A	possibly damaging	Het
Vmn1r214	C	T	13: 23,219,273 (GRCm39)	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,282,396 (GRCm39)	V740A	probably benign	Het
Yipf1	A	T	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zdhhc2	G	T	8: 40,898,846 (GRCm39)		probably null	Het
Zfp655	C	T	5: 145,181,290 (GRCm39)	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,622,410 (GRCm39)	T445I	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
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
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'- AAGATCTCAGGACTCAGGACTG -3'

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

Posted On

2021-04-30