Incidental Mutation 'R1288:Nme8'
ID 150679
Institutional Source Beutler Lab
Gene Symbol Nme8
Ensembl Gene ENSMUSG00000041138
Gene Name NME/NM23 family member 8
Synonyms Sptrx-2, 1700056P15Rik, Txndc3
MMRRC Submission 039354-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R1288 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 19829248-19881964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19858619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 73 (V73A)
Ref Sequence ENSEMBL: ENSMUSP00000152780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763] [ENSMUST00000223466]
AlphaFold Q715T0
Predicted Effect possibly damaging
Transcript: ENSMUST00000039340
AA Change: V312A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: V312A

DomainStartEndE-ValueType
Pfam:Thioredoxin 11 112 3.7e-12 PFAM
Pfam:NDK 155 283 2.3e-14 PFAM
NDK 312 452 3.8e-28 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000091763
AA Change: V312A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: V312A

DomainStartEndE-ValueType
Pfam:Thioredoxin 11 112 6.9e-12 PFAM
Pfam:NDK 155 284 1.1e-13 PFAM
NDK 312 449 2.75e-25 SMART
NDK 450 586 1.45e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223286
Predicted Effect possibly damaging
Transcript: ENSMUST00000223466
AA Change: V73A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutant displays normal reproductive system phenotype [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A T 5: 129,206,071 (GRCm39) D247V probably damaging Het
Ano5 A T 7: 51,196,620 (GRCm39) S184C probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Atxn3 C T 12: 101,908,437 (GRCm39) probably null Het
BC005537 A T 13: 24,988,883 (GRCm39) E54V probably damaging Het
Ccdc150 A T 1: 54,403,617 (GRCm39) E881V probably damaging Het
Cep126 A T 9: 8,112,182 (GRCm39) N130K probably benign Het
Enoph1 A G 5: 100,188,138 (GRCm39) T21A possibly damaging Het
Fbxw28 A G 9: 109,166,361 (GRCm39) I165T probably damaging Het
Lrp12 A T 15: 39,741,799 (GRCm39) N305K probably damaging Het
Msl2 A G 9: 100,979,308 (GRCm39) T561A probably benign Het
Mup21 G T 4: 62,068,934 (GRCm39) A19E probably benign Het
Myh13 T C 11: 67,244,544 (GRCm39) I1027T probably benign Het
Nkg7 A G 7: 43,087,086 (GRCm39) probably null Het
Or2g1 T A 17: 38,106,584 (GRCm39) L83Q probably damaging Het
Or2n1e A G 17: 38,586,114 (GRCm39) T151A probably benign Het
Or52a5 A T 7: 103,427,249 (GRCm39) L101Q possibly damaging Het
Or5w12 G A 2: 87,501,916 (GRCm39) A265V probably benign Het
Or6c69c A G 10: 129,911,154 (GRCm39) N292D probably damaging Het
Rapgef3 C A 15: 97,657,223 (GRCm39) S267I probably benign Het
Trhde T A 10: 114,637,195 (GRCm39) D4V probably benign Het
Vmn1r234 CTT CTTT 17: 21,449,513 (GRCm39) probably null Het
Zfp40 T A 17: 23,401,136 (GRCm39) I36L probably benign Het
Other mutations in Nme8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Nme8 APN 13 19,873,150 (GRCm39) missense probably damaging 1.00
IGL02272:Nme8 APN 13 19,842,996 (GRCm39) missense probably damaging 0.99
IGL02344:Nme8 APN 13 19,858,574 (GRCm39) missense possibly damaging 0.94
IGL02395:Nme8 APN 13 19,862,078 (GRCm39) missense possibly damaging 0.64
IGL02621:Nme8 APN 13 19,859,818 (GRCm39) missense probably damaging 1.00
IGL02645:Nme8 APN 13 19,844,755 (GRCm39) missense probably damaging 1.00
IGL02807:Nme8 APN 13 19,860,001 (GRCm39) unclassified probably benign
IGL03059:Nme8 APN 13 19,836,414 (GRCm39) missense possibly damaging 0.92
IGL03288:Nme8 APN 13 19,880,776 (GRCm39) missense possibly damaging 0.94
IGL03323:Nme8 APN 13 19,873,120 (GRCm39) missense probably benign 0.06
R0139:Nme8 UTSW 13 19,862,018 (GRCm39) missense probably benign 0.19
R0616:Nme8 UTSW 13 19,875,029 (GRCm39) missense probably benign 0.00
R0632:Nme8 UTSW 13 19,842,206 (GRCm39) missense probably damaging 0.96
R1233:Nme8 UTSW 13 19,844,682 (GRCm39) missense possibly damaging 0.71
R1305:Nme8 UTSW 13 19,881,077 (GRCm39) missense possibly damaging 0.90
R1773:Nme8 UTSW 13 19,881,206 (GRCm39) start codon destroyed probably damaging 1.00
R1942:Nme8 UTSW 13 19,859,978 (GRCm39) missense probably damaging 1.00
R1970:Nme8 UTSW 13 19,836,492 (GRCm39) missense probably damaging 1.00
R2012:Nme8 UTSW 13 19,881,053 (GRCm39) missense probably damaging 1.00
R2093:Nme8 UTSW 13 19,835,042 (GRCm39) missense probably damaging 1.00
R2392:Nme8 UTSW 13 19,873,113 (GRCm39) critical splice donor site probably null
R2436:Nme8 UTSW 13 19,862,029 (GRCm39) missense probably damaging 1.00
R2901:Nme8 UTSW 13 19,859,834 (GRCm39) missense probably benign 0.02
R2902:Nme8 UTSW 13 19,859,834 (GRCm39) missense probably benign 0.02
R4665:Nme8 UTSW 13 19,858,605 (GRCm39) missense probably damaging 1.00
R4751:Nme8 UTSW 13 19,859,808 (GRCm39) critical splice donor site probably null
R4785:Nme8 UTSW 13 19,842,100 (GRCm39) missense probably damaging 0.96
R5101:Nme8 UTSW 13 19,875,017 (GRCm39) critical splice donor site probably null
R5217:Nme8 UTSW 13 19,880,861 (GRCm39) missense probably damaging 1.00
R5251:Nme8 UTSW 13 19,844,795 (GRCm39) missense probably benign 0.33
R5356:Nme8 UTSW 13 19,836,469 (GRCm39) missense probably damaging 1.00
R5397:Nme8 UTSW 13 19,878,549 (GRCm39) missense probably damaging 1.00
R5624:Nme8 UTSW 13 19,862,038 (GRCm39) missense possibly damaging 0.94
R6679:Nme8 UTSW 13 19,875,140 (GRCm39) splice site probably null
R7040:Nme8 UTSW 13 19,878,498 (GRCm39) missense probably damaging 1.00
R7111:Nme8 UTSW 13 19,859,817 (GRCm39) missense probably benign 0.06
R7185:Nme8 UTSW 13 19,862,053 (GRCm39) missense probably damaging 1.00
R7670:Nme8 UTSW 13 19,842,999 (GRCm39) missense probably benign 0.01
R7685:Nme8 UTSW 13 19,835,145 (GRCm39) missense probably benign 0.00
R8108:Nme8 UTSW 13 19,835,130 (GRCm39) missense probably benign 0.00
R8331:Nme8 UTSW 13 19,843,036 (GRCm39) missense probably damaging 1.00
R8413:Nme8 UTSW 13 19,858,689 (GRCm39) missense probably benign 0.01
R8808:Nme8 UTSW 13 19,859,978 (GRCm39) missense probably damaging 1.00
R9227:Nme8 UTSW 13 19,874,384 (GRCm39) missense probably benign
R9230:Nme8 UTSW 13 19,874,384 (GRCm39) missense probably benign
R9422:Nme8 UTSW 13 19,859,918 (GRCm39) missense probably benign 0.01
Z1088:Nme8 UTSW 13 19,873,127 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ACGGCTTAGACAATGCCTTGTGAA -3'
(R):5'- AGCATTCTCCTTCTGTGCCAGGTTA -3'

Sequencing Primer
(F):5'- GACAATGCCTTGTGAATTCTTCATC -3'
(R):5'- CAGACATAGCTTCTTACACCTTTAG -3'
Posted On 2014-01-29