Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Dgcr6'

568242

Institutional Source

Beutler Lab

Gene Symbol

Dgcr6

Ensembl Gene

ENSMUSG00000003531

Gene Name

DiGeorge syndrome critical region gene 6

Synonyms

MMRRC Submission

045417-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17870736-17889497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17888771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 69 (T69A)

Ref Sequence

ENSEMBL: ENSMUSP00000118954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000066027] [ENSMUST00000076757] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000153123] [ENSMUST00000143343] [ENSMUST00000151266] [ENSMUST00000155387] [ENSMUST00000232554]

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

silent
Transcript: ENSMUST00000066027

SMART Domains

Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531

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

Predicted Effect

silent
Transcript: ENSMUST00000076757

SMART Domains

Protein: ENSMUSP00000076044
Gene: ENSMUSG00000003531

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126087

SMART Domains

Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526

Domain	Start	End	E-Value	Type
Pfam:Pro_dh	25	244	2.9e-76	PFAM

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: ENSMUST00000141635

Predicted Effect

unknown
Transcript: ENSMUST00000153123
AA Change: T69A

SMART Domains

Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531
AA Change: T69A

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

Predicted Effect

silent
Transcript: ENSMUST00000143343

SMART Domains

Protein: ENSMUSP00000123029
Gene: ENSMUSG00000003531

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

Predicted Effect

silent
Transcript: ENSMUST00000151266

SMART Domains

Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531

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

Predicted Effect

silent
Transcript: ENSMUST00000155387

SMART Domains

Protein: ENSMUSP00000123053
Gene: ENSMUSG00000003531

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232554

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Adam33	C	T	2: 130,895,614 (GRCm39)	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,774,487 (GRCm39)	S425P	probably damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,510,754 (GRCm39)	D458G	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,293,222 (GRCm39)	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Vezf1	T	A	11: 87,972,410 (GRCm39)	I439K	possibly damaging	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zfp715	T	C	7: 42,960,562 (GRCm39)	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,740,445 (GRCm39)	E382K	possibly damaging	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
R4837:Dgcr6	UTSW	16	17,884,710 (GRCm39)	missense	possibly damaging	0.79
R5911:Dgcr6	UTSW	16	17,884,598 (GRCm39)	missense	probably damaging	1.00
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'- GGTTCTGGTTCCACGGTATC -3'
(R):5'- CTCCAAATCTGAACAGTGGATGG -3'

Sequencing Primer
(F):5'- ACGGTATCCAGTTTCCACAGG -3'
(R):5'- GCATAGCCAGGATCTAATCAGC -3'

Posted On

2019-06-26