Incidental Mutation 'IGL03406:Nmnat3'
ID 421607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmnat3
Ensembl Gene ENSMUSG00000032456
Gene Name nicotinamide nucleotide adenylyltransferase 3
Synonyms PNAT3, 4933408N02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL03406
Quality Score
Status
Chromosome 9
Chromosomal Location 98287435-98420438 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98399477 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 44 (G44D)
Ref Sequence ENSEMBL: ENSMUSP00000141111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112935] [ENSMUST00000112937] [ENSMUST00000112938] [ENSMUST00000134253]
AlphaFold Q99JR6
Predicted Effect probably damaging
Transcript: ENSMUST00000112935
AA Change: G44D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108557
Gene: ENSMUSG00000032456
AA Change: G44D

DomainStartEndE-ValueType
Pfam:CTP_transf_2 3 97 2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112937
SMART Domains Protein: ENSMUSP00000108559
Gene: ENSMUSG00000032456

DomainStartEndE-ValueType
Pfam:CTP_transf_2 1 141 7.6e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112938
AA Change: G44D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108560
Gene: ENSMUSG00000032456
AA Change: G44D

DomainStartEndE-ValueType
Pfam:CTP_transf_2 10 121 2.4e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134253
AA Change: G44D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141111
Gene: ENSMUSG00000032456
AA Change: G44D

DomainStartEndE-ValueType
Pfam:CTP_transf_2 10 55 4.3e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit splenomegaly and hemolytic anemia resulting from a glycolysis pathway blockade. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik A G 4: 144,423,844 Y56H probably damaging Het
A530016L24Rik T A 12: 112,496,883 probably null Het
Adcy7 C T 8: 88,318,319 R228* probably null Het
Cdcp1 T C 9: 123,185,313 H132R probably benign Het
Cyp4a32 T C 4: 115,602,303 I78T probably benign Het
Fap A T 2: 62,542,122 probably benign Het
Gad1-ps C T 10: 99,444,779 noncoding transcript Het
Gli3 T C 13: 15,648,581 I296T probably damaging Het
H2-Q2 T C 17: 35,342,825 V97A probably benign Het
Hr T A 14: 70,563,420 probably null Het
Itgax C T 7: 128,149,198 T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 R339H probably damaging Het
Mast4 T C 13: 102,737,107 K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 Y528H probably benign Het
Nol8 A T 13: 49,661,568 D366V probably damaging Het
Olfr539 C A 7: 140,667,511 L68M probably damaging Het
Pde4d A T 13: 109,954,591 probably benign Het
Ptpn22 C A 3: 103,912,016 N795K probably benign Het
Rabgap1l A T 1: 160,722,169 V289D probably damaging Het
Slc50a1 T C 3: 89,270,101 D40G possibly damaging Het
Slco6b1 T C 1: 96,947,585 noncoding transcript Het
Smarcad1 T A 6: 65,092,526 F530Y probably damaging Het
Spag6 A G 2: 18,742,873 probably benign Het
Supt16 A T 14: 52,178,141 I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 N39S probably benign Het
Ubash3b T A 9: 41,037,479 Y180F probably damaging Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 T366A probably benign Het
Zfp456 A T 13: 67,366,331 C419S probably damaging Het
Zfp69 T C 4: 120,931,084 T345A probably benign Het
Other mutations in Nmnat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4466001:Nmnat3 UTSW 9 98410253 missense probably benign 0.39
R1564:Nmnat3 UTSW 9 98354166 critical splice donor site probably null
R1780:Nmnat3 UTSW 9 98354111 missense probably damaging 1.00
R1832:Nmnat3 UTSW 9 98399468 missense probably damaging 0.97
R1981:Nmnat3 UTSW 9 98410299 missense possibly damaging 0.93
R3111:Nmnat3 UTSW 9 98399480 missense probably damaging 1.00
R3711:Nmnat3 UTSW 9 98410223 missense probably damaging 1.00
R4355:Nmnat3 UTSW 9 98410152 missense possibly damaging 0.88
R7055:Nmnat3 UTSW 9 98410233 missense probably benign 0.00
R7948:Nmnat3 UTSW 9 98399482 missense probably benign 0.02
R8032:Nmnat3 UTSW 9 98410218 missense probably benign 0.01
R8323:Nmnat3 UTSW 9 98410223 missense probably damaging 1.00
Z1177:Nmnat3 UTSW 9 98399542 missense probably benign 0.11
Posted On 2016-08-02