Mutagenetix > Incidental Mutation

Incidental Mutation 'R3841:Dgcr6'

277180

Institutional Source

Beutler Lab

Gene Symbol

Dgcr6

Ensembl Gene

ENSMUSG00000003531

Gene Name

DiGeorge syndrome critical region gene 6

Synonyms

MMRRC Submission

040781-MU

Accession Numbers

Essential gene?

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

Stock #

R3841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17870736-17889497 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 17888077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 200 (Y200*)

Ref Sequence

ENSEMBL: ENSMUSP00000123053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000066027] [ENSMUST00000076757] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000155387] [ENSMUST00000153123] [ENSMUST00000143343] [ENSMUST00000151266] [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
AA Change: Y168*

SMART Domains

Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531
AA Change: Y168*

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

Predicted Effect

probably null
Transcript: ENSMUST00000076757
AA Change: Y137*

SMART Domains

Protein: ENSMUSP00000076044
Gene: ENSMUSG00000003531
AA Change: Y137*

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: 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 null
Transcript: ENSMUST00000155387
AA Change: Y200*

SMART Domains

Protein: ENSMUSP00000123053
Gene: ENSMUSG00000003531
AA Change: Y200*

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

Predicted Effect

unknown
Transcript: ENSMUST00000153123
AA Change: R53S

SMART Domains

Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531
AA Change: R53S

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

Predicted Effect

probably null
Transcript: ENSMUST00000143343
AA Change: Y137*

SMART Domains

Protein: ENSMUSP00000123029
Gene: ENSMUSG00000003531
AA Change: Y137*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148514

Predicted Effect

probably null
Transcript: ENSMUST00000151266
AA Change: Y165*

SMART Domains

Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531
AA Change: Y165*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148372

Predicted Effect

probably benign
Transcript: ENSMUST00000141635

Predicted Effect

probably benign
Transcript: ENSMUST00000232554

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

98% (43/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,104 (GRCm39)	K11N	probably benign	Het
Atp8b3	A	G	10: 80,365,540 (GRCm39)	F405L	possibly damaging	Het
BC035947	G	T	1: 78,474,482 (GRCm39)	N683K	probably benign	Het
Bmper	T	A	9: 23,384,727 (GRCm39)		probably null	Het
Btnl7-ps	A	G	17: 34,761,550 (GRCm39)		noncoding transcript	Het
Cmya5	A	G	13: 93,231,140 (GRCm39)	V1316A	probably damaging	Het
Cracd	A	T	5: 77,006,858 (GRCm39)	Q1073L	unknown	Het
Dsp	A	C	13: 38,381,681 (GRCm39)	I2210L	probably benign	Het
Eef1e1	G	A	13: 38,840,167 (GRCm39)	T46I	probably damaging	Het
Epc2	A	G	2: 49,378,750 (GRCm39)	K68R	probably damaging	Het
F11r	G	T	1: 171,288,457 (GRCm39)	R100L	probably damaging	Het
Fam83c	C	T	2: 155,676,668 (GRCm39)	R34H	probably benign	Het
Fbxw25	A	T	9: 109,491,202 (GRCm39)	Y105*	probably null	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Hipk2	T	C	6: 38,795,861 (GRCm39)	E136G	probably damaging	Het
Hsph1	T	A	5: 149,544,180 (GRCm39)		probably null	Het
Impdh1	A	G	6: 29,202,768 (GRCm39)	S421P	probably damaging	Het
Jhy	T	A	9: 40,856,142 (GRCm39)	E115V	probably benign	Het
Kmt2a	T	C	9: 44,742,588 (GRCm39)		probably benign	Het
Ldlrap1	T	C	4: 134,477,747 (GRCm39)	T159A	probably damaging	Het
Lrrc4c	A	G	2: 97,460,537 (GRCm39)	T388A	probably damaging	Het
Map3k10	C	A	7: 27,357,789 (GRCm39)	C663F	possibly damaging	Het
Me3	A	T	7: 89,435,701 (GRCm39)	N179Y	possibly damaging	Het
Medag	T	A	5: 149,350,888 (GRCm39)	I121N	probably damaging	Het
Mocos	C	T	18: 24,809,681 (GRCm39)	A428V	probably damaging	Het
Mok	C	T	12: 110,781,591 (GRCm39)	V59M	probably benign	Het
Neb	C	A	2: 52,097,672 (GRCm39)		probably null	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or52s1	G	A	7: 102,861,900 (GRCm39)	G267R	probably damaging	Het
Or6c35	A	G	10: 129,169,202 (GRCm39)	I151V	probably benign	Het
Otud1	G	T	2: 19,663,554 (GRCm39)	E228*	probably null	Het
Parp4	A	T	14: 56,825,235 (GRCm39)	N120Y	probably damaging	Het
Ptprb	T	C	10: 116,182,887 (GRCm39)	V1521A	possibly damaging	Het
Rap1gap	T	C	4: 137,444,758 (GRCm39)	F182S	probably damaging	Het
Rcan2	A	G	17: 44,347,870 (GRCm39)	K193R	probably benign	Het
Rdh19	A	T	10: 127,692,755 (GRCm39)	M141L	probably benign	Het
Selenok	C	T	14: 29,695,337 (GRCm39)	R72*	probably null	Het
Tbpl1	A	G	10: 22,587,807 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,917,897 (GRCm39)	E2270G	possibly damaging	Het
Tulp1	A	G	17: 28,572,689 (GRCm39)	V489A	probably damaging	Het
Utp20	A	T	10: 88,611,065 (GRCm39)		probably benign	Het
Zfp617	G	A	8: 72,685,961 (GRCm39)	G97E	probably damaging	Het
Zfp773	A	G	7: 7,135,390 (GRCm39)	V402A	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTTTAAGGCATCCCTGGG -3'
(R):5'- TGTGCCAAGACTCCAGATGG -3'

Sequencing Primer
(F):5'- GCATCCCTGGGCGGAAG -3'
(R):5'- CAAGACTCCAGATGGGCTTG -3'

Posted On

2015-04-06