Incidental Mutation 'IGL00476:Nt5dc3'
ID 4682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5dc3
Ensembl Gene ENSMUSG00000054027
Gene Name 5'-nucleotidase domain containing 3
Synonyms Gnn, C630002B14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00476
Quality Score
Status
Chromosome 10
Chromosomal Location 86614869-86674253 bp(+) (GRCm39)
Type of Mutation splice site (2 bp from exon)
DNA Base Change (assembly) T to C at 86669838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000099396]
AlphaFold Q3UHB1
Predicted Effect probably damaging
Transcript: ENSMUST00000099396
AA Change: F478L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
AA Change: F478L

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
Pfam:5_nucleotid 83 526 1.8e-159 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218792
Predicted Effect probably null
Transcript: ENSMUST00000218802
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,035 (GRCm39) T47A possibly damaging Het
Adgrv1 A G 13: 81,637,193 (GRCm39) F3416S probably damaging Het
Arhgap42 T C 9: 9,006,344 (GRCm39) D684G probably damaging Het
Atp13a1 T C 8: 70,249,547 (GRCm39) L270P probably damaging Het
Baz2b T C 2: 59,744,083 (GRCm39) N1474S probably benign Het
Chmp1b2 A C X: 106,859,766 (GRCm39) probably benign Het
Chrna6 A G 8: 27,896,560 (GRCm39) I439T probably damaging Het
Cylc2 T C 4: 51,228,157 (GRCm39) M76T probably damaging Het
Ddx19a T C 8: 111,703,102 (GRCm39) K445R probably benign Het
Dennd4a A T 9: 64,819,044 (GRCm39) Y1733F probably damaging Het
Dop1b G A 16: 93,596,914 (GRCm39) probably benign Het
Ephb3 T A 16: 21,039,165 (GRCm39) probably null Het
Gpc2 G A 5: 138,272,571 (GRCm39) probably benign Het
Ift172 A G 5: 31,433,240 (GRCm39) Y550H probably damaging Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Ldhd G T 8: 112,355,270 (GRCm39) R238S possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mipep T G 14: 61,064,810 (GRCm39) L388R probably damaging Het
Mucl3 G T 17: 35,948,994 (GRCm39) H202N possibly damaging Het
Naa35 A G 13: 59,777,869 (GRCm39) D610G probably damaging Het
Nae1 A T 8: 105,253,013 (GRCm39) L137Q possibly damaging Het
Nyx T C X: 13,353,264 (GRCm39) F373L possibly damaging Het
Scaf11 A T 15: 96,316,461 (GRCm39) D1034E possibly damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Taar7a A T 10: 23,868,294 (GRCm39) probably benign Het
Tcf23 G T 5: 31,130,869 (GRCm39) C169F probably benign Het
Trim7 A T 11: 48,738,905 (GRCm39) N308I probably benign Het
Ubxn8 T C 8: 34,125,333 (GRCm39) E89G probably benign Het
Other mutations in Nt5dc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Nt5dc3 APN 10 86,656,137 (GRCm39) splice site probably benign
IGL01318:Nt5dc3 APN 10 86,661,089 (GRCm39) missense possibly damaging 0.69
IGL01369:Nt5dc3 APN 10 86,656,139 (GRCm39) splice site probably benign
IGL01376:Nt5dc3 APN 10 86,670,028 (GRCm39) missense probably benign 0.05
IGL01568:Nt5dc3 APN 10 86,669,802 (GRCm39) missense probably benign 0.02
IGL02286:Nt5dc3 APN 10 86,656,644 (GRCm39) splice site probably benign
IGL02692:Nt5dc3 APN 10 86,640,642 (GRCm39) splice site probably null
R0372:Nt5dc3 UTSW 10 86,661,155 (GRCm39) missense possibly damaging 0.82
R0714:Nt5dc3 UTSW 10 86,648,238 (GRCm39) missense probably damaging 1.00
R1755:Nt5dc3 UTSW 10 86,660,115 (GRCm39) missense probably damaging 1.00
R1888:Nt5dc3 UTSW 10 86,669,926 (GRCm39) missense possibly damaging 0.66
R1888:Nt5dc3 UTSW 10 86,669,926 (GRCm39) missense possibly damaging 0.66
R3973:Nt5dc3 UTSW 10 86,660,100 (GRCm39) missense probably damaging 1.00
R4097:Nt5dc3 UTSW 10 86,669,820 (GRCm39) missense probably benign 0.01
R4871:Nt5dc3 UTSW 10 86,652,941 (GRCm39) missense probably damaging 1.00
R5286:Nt5dc3 UTSW 10 86,640,656 (GRCm39) missense probably benign 0.08
R5482:Nt5dc3 UTSW 10 86,647,395 (GRCm39) missense probably damaging 1.00
R5530:Nt5dc3 UTSW 10 86,656,857 (GRCm39) missense probably damaging 0.99
R5861:Nt5dc3 UTSW 10 86,651,738 (GRCm39) missense probably damaging 1.00
R6260:Nt5dc3 UTSW 10 86,647,395 (GRCm39) missense probably damaging 1.00
R8251:Nt5dc3 UTSW 10 86,656,091 (GRCm39) missense probably damaging 0.98
R8734:Nt5dc3 UTSW 10 86,669,863 (GRCm39) missense possibly damaging 0.94
Posted On 2012-04-20