Incidental Mutation 'IGL02483:Dgcr6'
ID 295325
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: 0.306) question?
Stock # IGL02483
Quality Score
Status
Chromosome 16
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

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 noncoding transcript
Transcript: ENSMUST00000160746
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 probably benign
Transcript: ENSMUST00000153123
SMART Domains Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Car6 T A 4: 150,280,586 (GRCm39) N86I probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N 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
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Fut7 T A 2: 25,313,888 (GRCm39) F21Y possibly damaging Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kdr C T 5: 76,096,954 (GRCm39) probably null Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging 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
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4c111 G T 2: 88,843,547 (GRCm39) T287N probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Other mutations in Dgcr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481: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