Incidental Mutation 'R1755:Nt5dc3'
ID 194787
Institutional Source Beutler Lab
Gene Symbol Nt5dc3
Ensembl Gene ENSMUSG00000054027
Gene Name 5'-nucleotidase domain containing 3
Synonyms Gnn, C630002B14Rik
MMRRC Submission 039787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1755 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 86614869-86674253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86660115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 328 (D328G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099396]
AlphaFold Q3UHB1
Predicted Effect probably damaging
Transcript: ENSMUST00000099396
AA Change: D387G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
AA Change: D387G

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 damaging
Transcript: ENSMUST00000218802
AA Change: D328G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G A 8: 88,315,585 (GRCm39) R225H possibly damaging Het
9330159F19Rik A T 10: 29,098,290 (GRCm39) H199L possibly damaging Het
Acaca AC A 11: 84,167,390 (GRCm39) probably null Het
Adam23 G A 1: 63,582,329 (GRCm39) V326M probably damaging Het
Aldh1a2 T A 9: 71,169,023 (GRCm39) Y168* probably null Het
Ano6 A G 15: 95,870,451 (GRCm39) K869E possibly damaging Het
Aplp2 G A 9: 31,088,400 (GRCm39) A106V probably damaging Het
Arhgdib T A 6: 136,906,612 (GRCm39) K30* probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atg7 A G 6: 114,650,638 (GRCm39) T83A possibly damaging Het
Card9 T C 2: 26,249,546 (GRCm39) E5G probably damaging Het
Cars1 A G 7: 143,123,194 (GRCm39) V474A probably damaging Het
Cd300ld2 A G 11: 114,904,601 (GRCm39) F89L probably benign Het
Celf2 T A 2: 6,889,769 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,451,205 (GRCm39) D2174G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cox6b2 A G 7: 4,754,937 (GRCm39) F74S probably damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Ddx3y A G Y: 1,279,543 (GRCm39) I107T probably benign Het
Dnah5 A T 15: 28,326,782 (GRCm39) Y1997F probably damaging Het
Dync2i1 A G 12: 116,189,649 (GRCm39) L620P probably damaging Het
Epha4 A T 1: 77,364,460 (GRCm39) I683N probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gmip A G 8: 70,266,774 (GRCm39) I296M probably damaging Het
Gpr37l1 A G 1: 135,094,639 (GRCm39) S202P probably damaging Het
Ifi208 C A 1: 173,505,476 (GRCm39) D75E possibly damaging Het
Il24 T C 1: 130,811,680 (GRCm39) N132S possibly damaging Het
Katnal2 A G 18: 77,099,763 (GRCm39) C124R probably benign Het
Kcnq3 A T 15: 65,867,270 (GRCm39) L791Q probably damaging Het
Kcns3 T A 12: 11,141,445 (GRCm39) D418V probably benign Het
Kif13a A G 13: 46,906,089 (GRCm39) V618A possibly damaging Het
Kif13a A T 13: 46,927,154 (GRCm39) V1179E possibly damaging Het
Lpp A G 16: 24,663,874 (GRCm39) I259V probably benign Het
Mapkapk2 A G 1: 130,986,087 (GRCm39) probably null Het
Marchf7 T C 2: 60,065,265 (GRCm39) S514P probably benign Het
Nr4a2 T A 2: 56,999,104 (GRCm39) L381F probably damaging Het
Obox6 T C 7: 15,568,445 (GRCm39) K144E probably damaging Het
Oga A T 19: 45,746,845 (GRCm39) M735K possibly damaging Het
Olfml2b G A 1: 170,509,346 (GRCm39) V565M probably damaging Het
Or1d2 T C 11: 74,255,819 (GRCm39) V108A probably damaging Het
Orc3 G A 4: 34,575,114 (GRCm39) A590V possibly damaging Het
Picalm T C 7: 89,809,757 (GRCm39) S78P possibly damaging Het
Por T A 5: 135,758,339 (GRCm39) Y105* probably null Het
Ppara A G 15: 85,682,180 (GRCm39) K292R probably benign Het
Pramel27 T C 4: 143,577,380 (GRCm39) F3S probably damaging Het
Prss59 T G 6: 40,903,096 (GRCm39) Y92S probably damaging Het
Ralgds T A 2: 28,440,558 (GRCm39) I844N probably damaging Het
Rttn T C 18: 89,027,441 (GRCm39) Y519H probably damaging Het
Scn9a A G 2: 66,332,060 (GRCm39) V1261A probably benign Het
Slc2a2 T A 3: 28,767,811 (GRCm39) probably null Het
Slc5a7 T C 17: 54,600,006 (GRCm39) M136V probably benign Het
Smc4 C A 3: 68,941,441 (GRCm39) A1232E probably damaging Het
Smg1 A T 7: 117,802,287 (GRCm39) C270* probably null Het
Sparcl1 C T 5: 104,240,690 (GRCm39) E245K probably benign Het
Taf2 T C 15: 54,879,850 (GRCm39) H1162R probably damaging Het
Tlr3 T C 8: 45,851,010 (GRCm39) D105G probably benign Het
Tmem62 T C 2: 120,814,958 (GRCm39) probably null Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Ufd1 T G 16: 18,642,003 (GRCm39) C151W probably damaging Het
Upk1b T G 16: 38,600,402 (GRCm39) M193L probably benign Het
Usp15 A G 10: 122,968,949 (GRCm39) M334T probably damaging Het
Utp20 A G 10: 88,645,631 (GRCm39) S541P probably benign Het
Vmn1r61 A T 7: 5,614,302 (GRCm39) L4* probably null Het
Vmn2r96 G A 17: 18,802,915 (GRCm39) G83D possibly damaging Het
Zbtb8a T C 4: 129,248,110 (GRCm39) D387G possibly damaging Het
Zfp106 A T 2: 120,365,656 (GRCm39) N250K probably damaging Het
Zfp292 A G 4: 34,811,043 (GRCm39) V667A probably benign Het
Other mutations in Nt5dc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Nt5dc3 APN 10 86,669,838 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GTGCAGAGGGGCTTATGTAATCTGAAC -3'
(R):5'- CCCCTGGCATTTAGCGTATCATAGTG -3'

Sequencing Primer
(F):5'- tcactatgtcgtccttgcc -3'
(R):5'- GCATTTAGCGTATCATAGTGCTTTC -3'
Posted On 2014-05-23