Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Dgcr8'

153352

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

18071812-18107110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18096200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 496 (D496V)

Ref Sequence

ENSEMBL: ENSMUSP00000009321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009321] [ENSMUST00000115633]

AlphaFold

Q9EQM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000009321
AA Change: D496V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000009321
Gene: ENSMUSG00000022718
AA Change: D496V

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: 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

noncoding transcript
Transcript: ENSMUST00000128856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232476

Coding Region Coverage

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,960,126 (GRCm39)	D31V	probably damaging	Het
Acaca	A	T	11: 84,211,368 (GRCm39)	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980 (GRCm39)	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,598,895 (GRCm39)	V270A	probably benign	Het
Adgre4	G	A	17: 56,104,740 (GRCm39)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,781,427 (GRCm39)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,095,512 (GRCm39)	V4505A	probably benign	Het
Bnip2	T	A	9: 69,909,398 (GRCm39)		probably benign	Het
Casp16	A	G	17: 23,771,027 (GRCm39)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,695,136 (GRCm39)	T157K	probably benign	Het
Cdh23	A	G	10: 60,151,503 (GRCm39)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chmp6	G	A	11: 119,807,812 (GRCm39)	E72K	probably benign	Het
Cldn23	T	C	8: 36,292,816 (GRCm39)	Y224C	probably damaging	Het
Cry1	C	T	10: 84,982,338 (GRCm39)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,725,956 (GRCm39)	F30I	probably benign	Het
Dhx9	A	G	1: 153,344,614 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,820,801 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,860,282 (GRCm39)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,456,136 (GRCm39)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,331,167 (GRCm39)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,117,112 (GRCm39)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,124,346 (GRCm39)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,258,576 (GRCm39)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,666,512 (GRCm39)	T449I	probably benign	Het
Gm43638	T	C	5: 87,613,290 (GRCm39)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,090,158 (GRCm39)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,314,979 (GRCm39)	N923Y	probably benign	Het
Il17a	T	A	1: 20,803,864 (GRCm39)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,231,775 (GRCm39)	N330K	probably benign	Het
Kcnj11	T	C	7: 45,748,489 (GRCm39)	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,658,257 (GRCm39)	Y272*	probably null	Het
Kndc1	A	T	7: 139,509,959 (GRCm39)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,374,120 (GRCm39)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,398,861 (GRCm39)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,612,332 (GRCm39)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,898,434 (GRCm39)	L270P	probably damaging	Het
Med13	A	T	11: 86,210,609 (GRCm39)	I511N	probably benign	Het
Myo3a	A	T	2: 22,428,033 (GRCm39)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,493,858 (GRCm39)	F151I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or5b97	T	A	19: 12,879,112 (GRCm39)	T11S	probably benign	Het
Or7g27	G	A	9: 19,250,598 (GRCm39)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,214,613 (GRCm39)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,008,882 (GRCm39)	Y127*	probably null	Het
Psg18	A	G	7: 18,087,322 (GRCm39)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,299,918 (GRCm39)	N108K	probably benign	Het
Rictor	A	G	15: 6,806,865 (GRCm39)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,302,946 (GRCm39)	F93S	probably benign	Het
Rxrg	T	A	1: 167,454,884 (GRCm39)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,189,946 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,112 (GRCm39)	K481E	probably benign	Het
Snx19	T	C	9: 30,374,560 (GRCm39)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,173,791 (GRCm39)	D262E	probably benign	Het
Tasor2	G	A	13: 3,626,633 (GRCm39)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,740,209 (GRCm39)	P414L	probably damaging	Het
Treml2	T	C	17: 48,609,838 (GRCm39)	V90A	probably benign	Het
Uckl1	C	T	2: 181,211,327 (GRCm39)	V501M	probably damaging	Het
Unc79	C	T	12: 103,108,256 (GRCm39)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,567,903 (GRCm39)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,383,237 (GRCm39)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,603,643 (GRCm39)	D607G	probably benign	Het
Vps13a	C	T	19: 16,641,258 (GRCm39)	G2288D	probably damaging	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	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
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
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

Posted On

2014-02-04