Incidental Mutation 'IGL02483:Dgcr6'
ID295325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgcr6
Ensembl Gene ENSMUSG00000003531
Gene NameDiGeorge syndrome critical region gene 6
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.304) question?
Stock #IGL02483
Quality Score
Status
Chromosome16
Chromosomal Location18052860-18071632 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 18065174 bp
ZygosityHeterozygous
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] [ENSMUST00000153123] [ENSMUST00000155387]
Predicted Effect probably benign
Transcript: ENSMUST00000066027
SMART Domains Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DGCR6 2 167 1.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139861
SMART Domains Protein: ENSMUSP00000123223
Gene: ENSMUSG00000003526

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DGCR6 1 195 3.1e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153123
SMART Domains Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 3 163 9.6e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155387
SMART Domains Protein: ENSMUSP00000123053
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 2 41 1.6e-10 PFAM
Pfam:DGCR6 59 230 9.3e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160746
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 83,725,253 I512L probably damaging Het
Ahnak C A 19: 9,003,308 T652N probably benign Het
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Arnt2 T A 7: 84,251,397 H659L probably damaging Het
Cad A G 5: 31,060,826 probably null Het
Car6 T A 4: 150,196,129 N86I probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Cyp2c39 T A 19: 39,536,787 I178N probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Fam192a A G 8: 94,588,766 probably benign Het
Fmo4 A G 1: 162,808,421 V54A possibly damaging Het
Foxd3 C T 4: 99,657,028 S135F probably damaging Het
Fut7 T A 2: 25,423,876 F21Y possibly damaging Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gm4950 A T 18: 51,865,334 M183K probably damaging Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Hpd A T 5: 123,182,578 probably null Het
Imp4 T C 1: 34,444,275 probably null Het
Itgbl1 A T 14: 123,827,743 probably benign Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kdr C T 5: 75,936,294 probably null Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Lrrc28 T C 7: 67,617,983 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Map3k8 A G 18: 4,349,318 probably benign Het
Mcm3 A G 1: 20,803,572 S775P possibly damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Nbas C T 12: 13,324,294 A541V probably damaging Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1216 G T 2: 89,013,203 T287N probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Oma1 C T 4: 103,325,112 R271* probably null Het
Plekhh2 T C 17: 84,596,260 F1058S possibly damaging Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Rgs12 A G 5: 35,030,517 E506G probably damaging Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Sfr1 G A 19: 47,732,788 probably benign Het
Tmem184a T C 5: 139,813,077 E39G probably benign Het
Trim66 C T 7: 109,477,630 probably benign Het
Ugt2b35 A G 5: 87,001,145 Y85C possibly damaging Het
Uts2r G T 11: 121,160,387 G26C possibly damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Other mutations in Dgcr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Dgcr6 APN 16 18065174 missense possibly damaging 0.89
R3841:Dgcr6 UTSW 16 18070213 nonsense probably null
R4837:Dgcr6 UTSW 16 18066846 missense possibly damaging 0.79
R5911:Dgcr6 UTSW 16 18066734 missense probably damaging 1.00
R7322:Dgcr6 UTSW 16 18070907 missense unknown
Posted On2015-04-16