Incidental Mutation 'R6400:Nme9'
ID 516133
Institutional Source Beutler Lab
Gene Symbol Nme9
Ensembl Gene ENSMUSG00000046242
Gene Name NME/NM23 family member 9
Synonyms Txndc6
MMRRC Submission 044547-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6400 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 99333528-99356804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99351760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 248 (F248S)
Ref Sequence ENSEMBL: ENSMUSP00000150820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163199]
AlphaFold A0A1L1SUL6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056103
Predicted Effect possibly damaging
Transcript: ENSMUST00000163199
AA Change: F248S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127845
Gene: ENSMUSG00000046242
AA Change: F248S

DomainStartEndE-ValueType
Pfam:Thioredoxin 1 76 6.3e-9 PFAM
NDK 97 241 9.98e-55 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163199
AA Change: F248S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.2%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,638,435 (GRCm39) *160Q probably null Het
Aen G A 7: 78,557,142 (GRCm39) G330E probably benign Het
Akap8l G A 17: 32,555,294 (GRCm39) R262C probably damaging Het
Cbx8 G A 11: 118,929,694 (GRCm39) Q300* probably null Het
Cd274 C T 19: 29,362,808 (GRCm39) T290M probably damaging Het
Cd36 A C 5: 18,019,721 (GRCm39) S127A probably damaging Het
Celf3 A G 3: 94,387,593 (GRCm39) Y55C probably damaging Het
Clec1a A T 6: 129,412,316 (GRCm39) probably null Het
Cog2 A T 8: 125,277,045 (GRCm39) I684F probably damaging Het
Cyp2c65 C T 19: 39,049,558 (GRCm39) L29F possibly damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Dytn A T 1: 63,680,335 (GRCm39) L408* probably null Het
Flg A G 3: 93,187,228 (GRCm39) T227A probably benign Het
Heatr4 T A 12: 84,001,784 (GRCm39) K887M probably null Het
Hoxb1 C T 11: 96,256,818 (GRCm39) Q56* probably null Het
Kcnh7 T A 2: 62,569,688 (GRCm39) N736I probably damaging Het
Lgr4 T C 2: 109,821,478 (GRCm39) V120A probably damaging Het
Ltbp1 A G 17: 75,458,397 (GRCm39) Y326C possibly damaging Het
Map3k1 A T 13: 111,892,259 (GRCm39) S999T probably damaging Het
Med12l T C 3: 59,155,332 (GRCm39) F1171L probably damaging Het
Muc5b T C 7: 141,412,402 (GRCm39) S1783P unknown Het
Nbr1 T C 11: 101,456,600 (GRCm39) L159P probably damaging Het
Or4x11 C T 2: 89,867,739 (GRCm39) L159F probably benign Het
Or6k2 T C 1: 173,986,830 (GRCm39) S164P probably damaging Het
Rasgrf1 C T 9: 89,873,683 (GRCm39) T664I probably damaging Het
Setx A G 2: 29,020,286 (GRCm39) D91G probably damaging Het
Stim1 A G 7: 102,080,157 (GRCm39) R514G probably null Het
Svep1 C A 4: 58,049,169 (GRCm39) G3446V probably damaging Het
Tcte2 T A 17: 13,942,714 (GRCm39) probably benign Het
Trmt10b A G 4: 45,308,562 (GRCm39) K239E probably damaging Het
Wdr70 A T 15: 8,072,322 (GRCm39) S189T probably benign Het
Other mutations in Nme9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Nme9 APN 9 99,351,684 (GRCm39) missense probably damaging 0.97
IGL02573:Nme9 APN 9 99,352,908 (GRCm39) missense probably benign 0.45
R1900:Nme9 UTSW 9 99,341,827 (GRCm39) missense probably damaging 0.96
R4091:Nme9 UTSW 9 99,346,580 (GRCm39) missense possibly damaging 0.71
R5079:Nme9 UTSW 9 99,341,755 (GRCm39) missense probably damaging 1.00
R7611:Nme9 UTSW 9 99,352,843 (GRCm39) missense probably benign 0.19
R7659:Nme9 UTSW 9 99,352,910 (GRCm39) missense possibly damaging 0.73
R8791:Nme9 UTSW 9 99,350,301 (GRCm39) missense probably damaging 1.00
R9284:Nme9 UTSW 9 99,338,321 (GRCm39) critical splice donor site probably null
R9361:Nme9 UTSW 9 99,341,775 (GRCm39) missense probably damaging 1.00
Z1176:Nme9 UTSW 9 99,352,848 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CACATGGGTAGTCTGGTTGC -3'
(R):5'- ATGTCGGGGAGTCTCAGAAAC -3'

Sequencing Primer
(F):5'- GTTGCGCTGGCCTGCTTC -3'
(R):5'- CGGGGAGTCTCAGAAACTCAGAC -3'
Posted On 2018-05-04