Incidental Mutation 'R7948:Nmnat3'
ID 615980
Institutional Source Beutler Lab
Gene Symbol Nmnat3
Ensembl Gene ENSMUSG00000032456
Gene Name nicotinamide nucleotide adenylyltransferase 3
Synonyms 4933408N02Rik, PNAT3
MMRRC Submission 045993-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R7948 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 98169488-98302491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98281535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 46 (I46V)
Ref Sequence ENSEMBL: ENSMUSP00000108557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112935] [ENSMUST00000112937] [ENSMUST00000112938] [ENSMUST00000134253]
AlphaFold Q99JR6
Predicted Effect probably benign
Transcript: ENSMUST00000112935
AA Change: I46V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108557
Gene: ENSMUSG00000032456
AA Change: I46V

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 benign
Transcript: ENSMUST00000112938
AA Change: I46V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000108560
Gene: ENSMUSG00000032456
AA Change: I46V

DomainStartEndE-ValueType
Pfam:CTP_transf_2 10 121 2.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134253
AA Change: I46V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000141111
Gene: ENSMUSG00000032456
AA Change: I46V

DomainStartEndE-ValueType
Pfam:CTP_transf_2 10 55 4.3e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik CGGTCTAGCTGAGCAGGAGGCAGCTCAGG CGG 14: 70,394,815 (GRCm39) probably null Het
Abca8a A T 11: 109,941,805 (GRCm39) Y1155N probably benign Het
Adcy8 C T 15: 64,687,199 (GRCm39) R435K possibly damaging Het
Adgrv1 C A 13: 81,707,648 (GRCm39) V1253F probably damaging Het
Adgrv1 T C 13: 81,707,707 (GRCm39) D1233G probably damaging Het
Baz2a G A 10: 127,961,194 (GRCm39) R1639H possibly damaging Het
Ccdc125 A G 13: 100,832,910 (GRCm39) T496A probably benign Het
Cntnap5a A G 1: 116,508,258 (GRCm39) M1257V probably benign Het
Cpne3 A G 4: 19,528,186 (GRCm39) probably null Het
Cts3 T C 13: 61,713,863 (GRCm39) E288G probably benign Het
Deup1 T C 9: 15,521,944 (GRCm39) K74E possibly damaging Het
Epn1 T A 7: 5,092,992 (GRCm39) Y101* probably null Het
Ercc4 A G 16: 12,948,049 (GRCm39) D422G probably benign Het
Exoc6 A C 19: 37,565,422 (GRCm39) N166T probably benign Het
Fam89a T C 8: 125,478,409 (GRCm39) Y47C probably damaging Het
Fbn1 C A 2: 125,183,219 (GRCm39) Q1753H probably damaging Het
Gal3st4 C T 5: 138,269,262 (GRCm39) R66Q probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Golm1 C A 13: 59,812,011 (GRCm39) probably null Het
Gtpbp3 A G 8: 71,945,230 (GRCm39) H434R probably damaging Het
Hbegf A G 18: 36,639,752 (GRCm39) L194S possibly damaging Het
Igsf10 A G 3: 59,239,279 (GRCm39) S301P probably benign Het
Il9r A C 11: 32,144,486 (GRCm39) C106W probably damaging Het
Lama5 T C 2: 179,843,994 (GRCm39) D389G probably damaging Het
Lyst T A 13: 13,921,174 (GRCm39) D3373E possibly damaging Het
Mkrn1 T A 6: 39,377,344 (GRCm39) Y361F probably benign Het
Mtrex C T 13: 113,058,296 (GRCm39) R45Q probably benign Het
Muc16 A T 9: 18,553,786 (GRCm39) I4169N unknown Het
Myo7a C T 7: 97,724,236 (GRCm39) G1150S probably damaging Het
Myom2 A G 8: 15,135,306 (GRCm39) D503G probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nrros A T 16: 31,981,076 (GRCm39) N17K unknown Het
Or51a39 C T 7: 102,362,895 (GRCm39) V242I probably benign Het
Patj A T 4: 98,312,547 (GRCm39) K295M probably damaging Het
Pax6 A G 2: 105,516,222 (GRCm39) T167A probably benign Het
Pclo T A 5: 14,815,180 (GRCm39) L1212* probably null Het
Peg3 T A 7: 6,711,781 (GRCm39) Y1147F probably damaging Het
Ppp2r5c T A 12: 110,432,420 (GRCm39) N77K probably benign Het
Prickle2 T C 6: 92,393,903 (GRCm39) I257V possibly damaging Het
Ptprc G A 1: 137,992,314 (GRCm39) T1132I probably benign Het
Serpinb6a G A 13: 34,107,003 (GRCm39) S183L probably benign Het
Slc6a15 T A 10: 103,240,156 (GRCm39) M293K possibly damaging Het
Tmem131 A T 1: 36,833,229 (GRCm39) W1749R probably damaging Het
Trpm8 T A 1: 88,302,091 (GRCm39) Y1020* probably null Het
Ttn G T 2: 76,598,523 (GRCm39) Y19463* probably null Het
Tubgcp5 T A 7: 55,443,996 (GRCm39) D18E probably benign Het
Ubtd1 T A 19: 42,022,174 (GRCm39) F149I probably benign Het
Xirp2 A G 2: 67,349,658 (GRCm39) K3279R possibly damaging Het
Zfp236 T C 18: 82,642,540 (GRCm39) T1117A probably damaging Het
Zfp945 A T 17: 23,071,096 (GRCm39) C289S unknown Het
Other mutations in Nmnat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03406:Nmnat3 APN 9 98,281,530 (GRCm39) missense probably damaging 1.00
PIT4466001:Nmnat3 UTSW 9 98,292,306 (GRCm39) missense probably benign 0.39
R1564:Nmnat3 UTSW 9 98,236,219 (GRCm39) critical splice donor site probably null
R1780:Nmnat3 UTSW 9 98,236,164 (GRCm39) missense probably damaging 1.00
R1832:Nmnat3 UTSW 9 98,281,521 (GRCm39) missense probably damaging 0.97
R1981:Nmnat3 UTSW 9 98,292,352 (GRCm39) missense possibly damaging 0.93
R3111:Nmnat3 UTSW 9 98,281,533 (GRCm39) missense probably damaging 1.00
R3711:Nmnat3 UTSW 9 98,292,276 (GRCm39) missense probably damaging 1.00
R4355:Nmnat3 UTSW 9 98,292,205 (GRCm39) missense possibly damaging 0.88
R7055:Nmnat3 UTSW 9 98,292,286 (GRCm39) missense probably benign 0.00
R8032:Nmnat3 UTSW 9 98,292,271 (GRCm39) missense probably benign 0.01
R8323:Nmnat3 UTSW 9 98,292,276 (GRCm39) missense probably damaging 1.00
Z1177:Nmnat3 UTSW 9 98,281,595 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GCTTCCACTCTGAGGCATAG -3'
(R):5'- ACACACGACTCTGTTACCTCAG -3'

Sequencing Primer
(F):5'- TTCCACTCTGAGGCATAGAGGAC -3'
(R):5'- GTTACCTCAGCACCTTCACCG -3'
Posted On 2020-01-23