Mutagenetix > Incidental Mutation

Incidental Mutation 'R8527:Dgcr6'

658868

Institutional Source

Beutler Lab

Gene Symbol

Dgcr6

Ensembl Gene

ENSMUSG00000003531

Gene Name

DiGeorge syndrome critical region gene 6

Synonyms

MMRRC Submission

067952-MU

Accession Numbers

Essential gene?

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

Stock #

R8527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17870736-17889497 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 17887390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123053 (fasta)

Gene Model

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

probably null
Transcript: ENSMUST00000066027

SMART Domains

Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531

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

Predicted Effect

probably null
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

probably null
Transcript: ENSMUST00000143343

SMART Domains

Protein: ENSMUSP00000123029
Gene: ENSMUSG00000003531

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

Predicted Effect

probably null
Transcript: ENSMUST00000151266

SMART Domains

Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531

Domain	Start	End	E-Value	Type
Pfam:DGCR6	1	195	3.1e-99	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 null
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: 100.0%
10x: 99.7%
20x: 98.9%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,349,047 (GRCm39)		probably null	Het
Acsl5	A	G	19: 55,280,259 (GRCm39)	T511A	probably damaging	Het
Ankrd35	A	G	3: 96,589,353 (GRCm39)	I191V	probably damaging	Het
Apmap	T	C	2: 150,428,385 (GRCm39)	Q254R	probably benign	Het
Arhgef12	A	T	9: 42,908,944 (GRCm39)	L661Q	possibly damaging	Het
Atf7ip2	T	A	16: 10,055,129 (GRCm39)		probably benign	Het
Braf	T	C	6: 39,604,693 (GRCm39)	H592R	probably benign	Het
Ceacam2	T	A	7: 25,238,155 (GRCm39)	I90L	probably benign	Het
Efcab12	T	C	6: 115,791,535 (GRCm39)	I546V	probably benign	Het
Eya1	G	T	1: 14,322,672 (GRCm39)	A268E	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Gas6	T	C	8: 13,515,790 (GRCm39)	I661V	probably damaging	Het
Gipc3	T	A	10: 81,174,055 (GRCm39)	M240L	possibly damaging	Het
Gm12689	A	G	4: 99,184,450 (GRCm39)	D101G	unknown	Het
Kctd2	G	T	11: 115,320,310 (GRCm39)		probably benign	Het
Kdm5b	A	T	1: 134,533,512 (GRCm39)	M534L	possibly damaging	Het
Kif14	T	A	1: 136,396,495 (GRCm39)	V267D	possibly damaging	Het
Lca5l	C	A	16: 95,960,438 (GRCm39)	G675C	probably damaging	Het
Lmod1	T	C	1: 135,292,221 (GRCm39)	F359L	possibly damaging	Het
Lonrf1	G	T	8: 36,686,986 (GRCm39)	N783K	possibly damaging	Het
Megf10	T	C	18: 57,425,790 (GRCm39)	S1059P	probably benign	Het
Mmp24	A	G	2: 155,641,634 (GRCm39)	E154G	probably benign	Het
Mtus2	A	C	5: 148,240,408 (GRCm39)	K85T	probably damaging	Het
Myh11	T	C	16: 14,048,570 (GRCm39)	H586R	probably damaging	Het
Noc2l	A	G	4: 156,326,187 (GRCm39)	T425A	probably benign	Het
Olfm3	A	T	3: 114,916,196 (GRCm39)	Q376L	probably benign	Het
Pax5	A	T	4: 44,570,071 (GRCm39)	Y272N	probably damaging	Het
Rasgrp1	A	T	2: 117,168,785 (GRCm39)	D64E	probably benign	Het
Rb1cc1	T	A	1: 6,315,099 (GRCm39)	N417K	probably damaging	Het
Rpl3l	A	G	17: 24,954,754 (GRCm39)	D369G	probably damaging	Het
Scn3a	G	T	2: 65,327,863 (GRCm39)	H876N	probably damaging	Het
Slc29a3	A	G	10: 60,566,401 (GRCm39)	S111P	probably damaging	Het
Smarca2	G	C	19: 26,654,187 (GRCm39)	V791L	probably damaging	Het
Smc4	T	A	3: 68,940,224 (GRCm39)		probably null	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tanc2	A	G	11: 105,807,834 (GRCm39)	E1288G	probably damaging	Het
Tex52	G	A	6: 128,356,828 (GRCm39)	V174I	probably benign	Het
Tjp2	C	A	19: 24,088,937 (GRCm39)	G660W	probably damaging	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tmem209	C	A	6: 30,497,237 (GRCm39)	V318F	probably damaging	Het
Tnxb	A	G	17: 34,907,634 (GRCm39)	E1226G	probably damaging	Het
Traf3ip3	T	A	1: 192,876,851 (GRCm39)	I196F	probably damaging	Het
Trpc4ap	G	C	2: 155,534,132 (GRCm39)	P32R	unknown	Het
Vav3	A	G	3: 109,410,787 (GRCm39)	K206R	probably damaging	Het
Zan	T	C	5: 137,433,971 (GRCm39)	E2254G	unknown	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
R7322:Dgcr6	UTSW	16	17,888,771 (GRCm39)	missense	unknown
R8309:Dgcr6	UTSW	16	17,884,598 (GRCm39)	missense	probably damaging	1.00
R9018:Dgcr6	UTSW	16	17,884,607 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTCCCCACAGCTTTCTGG -3'
(R):5'- TGCTTGTTTGCCAGGACAGG -3'

Sequencing Primer
(F):5'- GAAGTGCTTCCTTGAACTAGACC -3'
(R):5'- TTTGCCAGGACAGGGGAGTG -3'

Posted On

2021-01-18