Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Dgcr6'

374367

Institutional Source

Beutler Lab

Gene Symbol

Dgcr6

Ensembl Gene

ENSMUSG00000003531

Gene Name

DiGeorge syndrome critical region gene 6

Synonyms

MMRRC Submission

042452-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

R4837 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

17870736-17889497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17884710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 87 (N87K)

Ref Sequence

ENSEMBL: ENSMUSP00000067682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000066027] [ENSMUST00000076757] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000143343] [ENSMUST00000153123] [ENSMUST00000151266] [ENSMUST00000155387]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003620

SMART Domains

Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC
low complexity region	41	52	N/A	INTRINSIC
Pfam:Pro_dh	119	578	7.7e-87	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066027
AA Change: N87K

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531
AA Change: N87K

Domain	Start	End	E-Value	Type
Pfam:DGCR6	1	198	4e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076757
AA Change: N59K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076044
Gene: ENSMUSG00000003531
AA Change: N59K

Domain	Start	End	E-Value	Type
Pfam:DGCR6	2	167	1.1e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123969

Predicted Effect

probably benign
Transcript: ENSMUST00000136776

SMART Domains

Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526

Domain	Start	End	E-Value	Type
low complexity region	118	129	N/A	INTRINSIC
Pfam:Pro_dh	159	479	1.8e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139861

SMART Domains

Protein: ENSMUSP00000123223
Gene: ENSMUSG00000003526

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC
low complexity region	41	52	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143343
AA Change: N59K

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123029
Gene: ENSMUSG00000003531
AA Change: N59K

Domain	Start	End	E-Value	Type
Pfam:DGCR6	2	167	1.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153123

SMART Domains

Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531

Domain	Start	End	E-Value	Type
Pfam:DGCR6	3	163	9.6e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151266
AA Change: N87K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531
AA Change: N87K

Domain	Start	End	E-Value	Type
Pfam:DGCR6	1	195	3.1e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155387
AA Change: N119K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123053
Gene: ENSMUSG00000003531
AA Change: N119K

Domain	Start	End	E-Value	Type
Pfam:DGCR6	2	41	1.6e-10	PFAM
Pfam:DGCR6	59	230	9.3e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160746

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: This gene encodes a protein that is similar to the gonadal protein in Drosophila (fruit fly). The encoded protein is thought to play a role in migration of neural crest cells during development. Deletions in the human gene are associated with DiGeorge syndrome (or velocardiofacial syndrome) which has many clinical features including cardiac abnormalities, cleft palate, atypical facial features, hypocalcemia, hypoparathyroidism and defective development or congenital absence of the thymus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Ap3m1	G	A	14: 21,087,225 (GRCm39)	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Cabp1	T	C	5: 115,311,212 (GRCm39)	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Dusp13b	T	A	14: 21,793,593 (GRCm39)		probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hectd3	T	A	4: 116,859,794 (GRCm39)	C744S	probably null	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or4k44	T	A	2: 111,368,319 (GRCm39)	H105L	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rps24	C	T	14: 24,541,855 (GRCm39)	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Sec62	T	A	3: 30,864,018 (GRCm39)	M100K	unknown	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	probably benign	Het

Other mutations in Dgcr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Dgcr6	APN	16	17,883,038 (GRCm39)	missense	possibly damaging	0.89
IGL02483:Dgcr6	APN	16	17,883,038 (GRCm39)	missense	possibly damaging	0.89
critical	UTSW	16	17,884,607 (GRCm39)	missense	probably damaging	1.00
Syndromic	UTSW	16	17,884,598 (GRCm39)	missense	probably damaging	1.00
R3841:Dgcr6	UTSW	16	17,888,077 (GRCm39)	nonsense	probably null
R5911:Dgcr6	UTSW	16	17,884,598 (GRCm39)	missense	probably damaging	1.00
R7322:Dgcr6	UTSW	16	17,888,771 (GRCm39)	missense	unknown
R8309:Dgcr6	UTSW	16	17,884,598 (GRCm39)	missense	probably damaging	1.00
R8527:Dgcr6	UTSW	16	17,887,390 (GRCm39)	critical splice donor site	probably null
R9018:Dgcr6	UTSW	16	17,884,607 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTACAGAGCCTGGTCAAG -3'
(R):5'- TGGATTATCTCTGTGGTAGCACAC -3'

Sequencing Primer
(F):5'- TCAAGGAGCTGCCCAGGTG -3'
(R):5'- GACCTACAAGCAGCGAGGTC -3'

Posted On

2016-03-01