Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02481:Dgcr6'

295221

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dgcr6

Ensembl Gene

ENSMUSG00000003531

Gene Name

DiGeorge syndrome critical region gene 6

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

17870736-17889497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17883038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 6 (A6T)

Ref Sequence

ENSEMBL: ENSMUSP00000123029 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066027

SMART Domains

Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076757
AA Change: A6T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076044
Gene: ENSMUSG00000003531
AA Change: A6T

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

possibly damaging
Transcript: ENSMUST00000143343
AA Change: A6T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123029
Gene: ENSMUSG00000003531
AA Change: A6T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148514

Predicted Effect

probably benign
Transcript: ENSMUST00000151266

SMART Domains

Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160746

Predicted Effect

probably benign
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: ENSMUST00000153123

SMART Domains

Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531

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

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,223,854 (GRCm39)	V117I	probably benign	Het
Cdkl2	A	T	5: 92,185,130 (GRCm39)	I87N	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Clca3a2	G	A	3: 144,790,701 (GRCm39)	S457L	possibly damaging	Het
Crim1	C	T	17: 78,658,227 (GRCm39)	T702I	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dspp	A	G	5: 104,323,514 (GRCm39)	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,795,914 (GRCm39)		probably benign	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868 (GRCm39)	Y873H	probably damaging	Het
Gsr	T	C	8: 34,175,569 (GRCm39)		probably benign	Het
Gtf2h1	T	C	7: 46,454,417 (GRCm39)	L133P	probably damaging	Het
Ifna5	A	C	4: 88,754,327 (GRCm39)	E189A	probably benign	Het
Irx5	A	G	8: 93,087,307 (GRCm39)	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,779,727 (GRCm39)	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kif19a	A	G	11: 114,679,979 (GRCm39)	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Krt78	C	A	15: 101,856,853 (GRCm39)		probably benign	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Mcm9	A	G	10: 53,502,033 (GRCm39)	I184T	probably damaging	Het
Mlycd	G	A	8: 120,137,073 (GRCm39)	R431H	probably damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Myof	G	T	19: 37,926,361 (GRCm39)	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Nnat	T	C	2: 157,403,167 (GRCm39)	F36S	possibly damaging	Het
Nsd3	C	A	8: 26,181,143 (GRCm39)	P915T	probably damaging	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or10k2	A	C	8: 84,268,015 (GRCm39)	M81L	possibly damaging	Het
Or1n1	A	T	2: 36,749,830 (GRCm39)	C177S	probably damaging	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4l1	G	A	14: 50,166,164 (GRCm39)	T279I	probably damaging	Het
Pkd1l3	A	G	8: 110,341,414 (GRCm39)	N89S	unknown	Het
Pkd2	T	C	5: 104,634,636 (GRCm39)	F556L	probably damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Ralgps1	G	A	2: 33,230,741 (GRCm39)	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Slc47a2	A	G	11: 61,227,067 (GRCm39)	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,432,112 (GRCm39)	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het
Zfhx4	G	A	3: 5,476,903 (GRCm39)	E3148K	probably damaging	Het

Other mutations in Dgcr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16