Incidental Mutation 'IGL02279:Dgcr14'
ID289793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgcr14
Ensembl Gene ENSMUSG00000003527
Gene NameDiGeorge syndrome critical region gene 14
SynonymsDgsi, ES2, Es2el, D16H22S1269E
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL02279
Quality Score
Status
Chromosome16
Chromosomal Location17900709-17911348 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17902911 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 357 (E357G)
Ref Sequence ENSEMBL: ENSMUSP00000003621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000046937] [ENSMUST00000055374] [ENSMUST00000232423]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003621
AA Change: E357G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: E357G

DomainStartEndE-ValueType
low complexity region 7 34 N/A INTRINSIC
Pfam:Es2 37 405 1.9e-76 PFAM
low complexity region 434 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000046937
SMART Domains Protein: ENSMUSP00000040302
Gene: ENSMUSG00000041566

DomainStartEndE-ValueType
S_TKc 12 272 3.86e-89 SMART
low complexity region 315 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055374
SMART Domains Protein: ENSMUSP00000051035
Gene: ENSMUSG00000045521

DomainStartEndE-ValueType
S_TKc 12 272 1.39e-90 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232366
Predicted Effect possibly damaging
Transcript: ENSMUST00000232423
AA Change: E356G

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The human ortholog of this gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 123,954,361 S699G probably benign Het
Ak2 C T 4: 128,999,237 A63V probably benign Het
Bckdha T C 7: 25,631,109 Y354C probably damaging Het
Fmod T A 1: 134,040,497 C92S probably damaging Het
Gdpd1 T C 11: 87,073,901 Y26C probably benign Het
Gpr45 T C 1: 43,032,838 S214P probably damaging Het
Lmod3 A G 6: 97,247,672 V396A probably damaging Het
Lpcat3 A G 6: 124,698,109 Y64C probably damaging Het
Nrd1 T A 4: 109,024,194 probably benign Het
Olfr152 C T 2: 87,783,232 R231C probably damaging Het
Olfr430 T A 1: 174,069,391 L31Q probably null Het
Olfr894 T C 9: 38,219,093 V90A probably benign Het
Pcnt T C 10: 76,403,765 D1296G probably damaging Het
Pitpnm1 T A 19: 4,101,207 I8N probably damaging Het
Sel1l T C 12: 91,814,997 N538S probably damaging Het
Srrm2 T G 17: 23,815,332 probably benign Het
Svs3b G T 2: 164,256,204 Q66K possibly damaging Het
Ttn T A 2: 76,810,290 K11959* probably null Het
Other mutations in Dgcr14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Dgcr14 APN 16 17902932 missense probably damaging 1.00
R0227:Dgcr14 UTSW 16 17902271 missense probably damaging 0.97
R0316:Dgcr14 UTSW 16 17910094 missense probably benign 0.06
R0669:Dgcr14 UTSW 16 17907555 missense probably damaging 1.00
R0880:Dgcr14 UTSW 16 17911187 missense probably damaging 0.96
R1230:Dgcr14 UTSW 16 17909950 missense probably benign 0.00
R1429:Dgcr14 UTSW 16 17902205 nonsense probably null
R1633:Dgcr14 UTSW 16 17909967 missense probably benign 0.03
R1891:Dgcr14 UTSW 16 17907780 nonsense probably null
R2035:Dgcr14 UTSW 16 17910086 critical splice donor site probably null
R2267:Dgcr14 UTSW 16 17909995 missense probably damaging 1.00
R7126:Dgcr14 UTSW 16 17911290 missense unknown
Posted On2015-04-16