Incidental Mutation 'IGL01376:Nt5dc3'
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ID78717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5dc3
Ensembl Gene ENSMUSG00000054027
Gene Name5'-nucleotidase domain containing 3
SynonymsGnn, C630002B14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01376
Quality Score
Status
Chromosome10
Chromosomal Location86779005-86838389 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86834164 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 541 (Q541L)
Ref Sequence ENSEMBL: ENSMUSP00000096994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099396]
Predicted Effect probably benign
Transcript: ENSMUST00000099396
AA Change: Q541L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
AA Change: Q541L

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
Pfam:5_nucleotid 83 526 1.8e-159 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218792
Predicted Effect probably benign
Transcript: ENSMUST00000218802
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A G 1: 37,628,344 L207P probably damaging Het
4930568D16Rik A T 2: 35,355,628 I61K probably benign Het
Acot12 A G 13: 91,784,671 Y521C probably damaging Het
Anxa7 T C 14: 20,460,456 N313D probably benign Het
Cdk14 T C 5: 5,010,839 I327M probably damaging Het
Clca3b T C 3: 144,826,051 N664S possibly damaging Het
Cpb1 A C 3: 20,270,324 L62R probably benign Het
Eef2 G A 10: 81,178,049 probably benign Het
Enox1 T C 14: 77,251,843 probably benign Het
Esco1 A T 18: 10,594,892 C131* probably null Het
Etv1 A T 12: 38,857,040 D347V probably damaging Het
Fat1 A G 8: 45,026,841 I2975V probably benign Het
Ghsr A G 3: 27,371,828 E11G probably benign Het
Gins4 T C 8: 23,227,327 D166G probably benign Het
Iglv2 G T 16: 19,260,565 H62N possibly damaging Het
Irf2bp1 T C 7: 19,006,027 S531P possibly damaging Het
Lrig3 T A 10: 125,994,466 F144L probably benign Het
Magi1 C T 6: 94,283,093 R77Q possibly damaging Het
Mlkl A G 8: 111,319,747 L298P probably damaging Het
Ndc1 T C 4: 107,375,197 L193P probably damaging Het
Npas3 A T 12: 54,044,586 T308S probably benign Het
Olfr1084 A C 2: 86,639,609 V33G probably benign Het
Olfr1115 T C 2: 87,252,873 V312A possibly damaging Het
Parp10 G T 15: 76,241,677 T437K probably benign Het
Phf3 A G 1: 30,830,485 V494A possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Sars2 T A 7: 28,749,883 Y307N probably damaging Het
Serping1 A T 2: 84,770,185 V271E probably damaging Het
Sgpl1 G A 10: 61,114,070 P117S probably damaging Het
Slc38a1 A C 15: 96,585,556 L297R probably damaging Het
Strbp A G 2: 37,645,651 M15T probably damaging Het
Tdp2 A G 13: 24,836,949 probably null Het
Tex10 T C 4: 48,456,740 Y657C possibly damaging Het
Xrcc4 A T 13: 90,062,050 S92T probably benign Het
Other mutations in Nt5dc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Nt5dc3 APN 10 86833974 unclassified probably null
IGL00767:Nt5dc3 APN 10 86820273 splice site probably benign
IGL01318:Nt5dc3 APN 10 86825225 missense possibly damaging 0.69
IGL01369:Nt5dc3 APN 10 86820275 splice site probably benign
IGL01568:Nt5dc3 APN 10 86833938 missense probably benign 0.02
IGL02286:Nt5dc3 APN 10 86820780 splice site probably benign
IGL02692:Nt5dc3 APN 10 86804778 splice site probably null
R0372:Nt5dc3 UTSW 10 86825291 missense possibly damaging 0.82
R0714:Nt5dc3 UTSW 10 86812374 missense probably damaging 1.00
R1755:Nt5dc3 UTSW 10 86824251 missense probably damaging 1.00
R1888:Nt5dc3 UTSW 10 86834062 missense possibly damaging 0.66
R1888:Nt5dc3 UTSW 10 86834062 missense possibly damaging 0.66
R3973:Nt5dc3 UTSW 10 86824236 missense probably damaging 1.00
R4097:Nt5dc3 UTSW 10 86833956 missense probably benign 0.01
R4871:Nt5dc3 UTSW 10 86817077 missense probably damaging 1.00
R5286:Nt5dc3 UTSW 10 86804792 missense probably benign 0.08
R5482:Nt5dc3 UTSW 10 86811531 missense probably damaging 1.00
R5530:Nt5dc3 UTSW 10 86820993 missense probably damaging 0.99
R5861:Nt5dc3 UTSW 10 86815874 missense probably damaging 1.00
R6260:Nt5dc3 UTSW 10 86811531 missense probably damaging 1.00
Posted On2013-11-05