Incidental Mutation 'R2436:Nme8'
ID 249598
Institutional Source Beutler Lab
Gene Symbol Nme8
Ensembl Gene ENSMUSG00000041138
Gene Name NME/NM23 family member 8
Synonyms Sptrx-2, 1700056P15Rik, Txndc3
MMRRC Submission 040397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R2436 (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 19862029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 200 (F200S)
Ref Sequence ENSEMBL: ENSMUSP00000089358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763] [ENSMUST00000223466]
AlphaFold Q715T0
Predicted Effect probably damaging
Transcript: ENSMUST00000039340
AA Change: F200S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: F200S

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 probably damaging
Transcript: ENSMUST00000091763
AA Change: F200S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: F200S

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 probably benign
Transcript: ENSMUST00000223466
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,582,308 (GRCm39) S277P possibly damaging Het
Arl6ip4 T C 5: 124,254,662 (GRCm39) S52P probably benign Het
Barx2 T C 9: 31,824,383 (GRCm39) H2R probably damaging Het
Calhm3 T C 19: 47,140,404 (GRCm39) T230A probably damaging Het
Card11 C T 5: 140,868,117 (GRCm39) V844M possibly damaging Het
Dnah6 C T 6: 73,126,156 (GRCm39) R1327Q probably benign Het
Dnai4 T C 4: 102,923,549 (GRCm39) I427V probably benign Het
Ehbp1 C A 11: 22,039,524 (GRCm39) probably null Het
Fgg T A 3: 82,921,496 (GRCm39) I393N possibly damaging Het
Foxq1 A T 13: 31,742,516 (GRCm39) probably benign Het
Hmgxb3 T C 18: 61,280,566 (GRCm39) T646A probably benign Het
Homer3 G A 8: 70,745,706 (GRCm39) E324K possibly damaging Het
Krt80 A G 15: 101,257,384 (GRCm39) F183L probably damaging Het
Map3k21 A T 8: 126,668,354 (GRCm39) K647* probably null Het
Mcm3ap A G 10: 76,325,891 (GRCm39) Y1067C probably damaging Het
Myh1 G T 11: 67,104,097 (GRCm39) Q921H probably benign Het
Nploc4 T C 11: 120,309,143 (GRCm39) N153S possibly damaging Het
Or14c45 T C 7: 86,176,591 (GRCm39) F209L probably damaging Het
Or2ak6 T C 11: 58,592,952 (GRCm39) C142R probably damaging Het
Or4a73 A G 2: 89,421,117 (GRCm39) V114A probably benign Het
Or5k1 C T 16: 58,617,607 (GRCm39) V201I probably benign Het
Pipox T A 11: 77,782,943 (GRCm39) L86F probably damaging Het
Polr3h G T 15: 81,801,406 (GRCm39) L157I probably benign Het
Prex2 G A 1: 11,336,376 (GRCm39) V1525M possibly damaging Het
Rapgef2 A T 3: 78,996,079 (GRCm39) D561E possibly damaging Het
Sacs A T 14: 61,440,354 (GRCm39) D800V possibly damaging Het
Sbsn A T 7: 30,451,655 (GRCm39) L223F possibly damaging Het
Slc16a9 TCCCC TCCCCC 10: 70,091,911 (GRCm39) probably null Het
Srrm3 G T 5: 135,864,030 (GRCm39) E43* probably null Het
Tcaf3 G A 6: 42,570,663 (GRCm39) A363V probably damaging Het
Tmem138 A G 19: 10,552,268 (GRCm39) F78S probably damaging Het
Tnfrsf17 G A 16: 11,137,676 (GRCm39) D138N probably damaging Het
Tubgcp6 C T 15: 88,986,568 (GRCm39) V1344I probably benign Het
Usp24 T A 4: 106,266,842 (GRCm39) L1875* probably null Het
Vmn2r109 C A 17: 20,774,798 (GRCm39) G186C probably damaging Het
Zfp541 A G 7: 15,810,373 (GRCm39) N137D possibly damaging 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
R1288:Nme8 UTSW 13 19,858,619 (GRCm39) missense possibly damaging 0.87
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
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'- TTGTGGACATCTTCAAGACACC -3'
(R):5'- GAGCCACTTTAAACCATGTGG -3'

Sequencing Primer
(F):5'- AGACACCAAAATTTATTCAATTGGC -3'
(R):5'- GCCACTTTAAACCATGTGGATTTTC -3'
Posted On 2014-11-12