Incidental Mutation 'IGL02645:Nme8'
ID 301916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nme8
Ensembl Gene ENSMUSG00000041138
Gene Name NME/NM23 family member 8
Synonyms Sptrx-2, 1700056P15Rik, Txndc3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02645
Quality Score
Status
Chromosome 13
Chromosomal Location 19829248-19881964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19844755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 111 (L111F)
Ref Sequence ENSEMBL: ENSMUSP00000152780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763] [ENSMUST00000223466]
AlphaFold Q715T0
Predicted Effect probably damaging
Transcript: ENSMUST00000039340
AA Change: L350F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: L350F

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: L350F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: L350F

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: ENSMUST00000221343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223286
Predicted Effect probably damaging
Transcript: ENSMUST00000223466
AA Change: L111F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,804 (GRCm39) Y48C probably damaging Het
Aox1 T A 1: 58,373,883 (GRCm39) M848K probably damaging Het
Apol7c A T 15: 77,413,083 (GRCm39) S56T probably benign Het
Asic4 G A 1: 75,449,998 (GRCm39) probably benign Het
Asxl1 A G 2: 153,234,777 (GRCm39) K162R possibly damaging Het
Car12 T A 9: 66,654,961 (GRCm39) H130Q probably benign Het
Cars1 T C 7: 143,111,646 (GRCm39) E737G probably damaging Het
Ccdc141 G A 2: 76,905,211 (GRCm39) R412* probably null Het
Cd36 T C 5: 17,990,878 (GRCm39) T421A probably benign Het
Clasp2 T G 9: 113,719,129 (GRCm39) M758R probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Ebf4 A G 2: 130,203,761 (GRCm39) K471E probably damaging Het
Fat2 T A 11: 55,173,654 (GRCm39) D2353V probably damaging Het
Gm10136 A G 19: 28,981,140 (GRCm39) probably benign Het
Intu A G 3: 40,655,702 (GRCm39) I930V probably benign Het
Ndrg2 T A 14: 52,143,979 (GRCm39) M300L possibly damaging Het
Nhs A G X: 160,942,054 (GRCm39) S111P probably benign Het
Nol8 T A 13: 49,818,947 (GRCm39) probably null Het
Or10g1b T A 14: 52,627,958 (GRCm39) T91S possibly damaging Het
Or12e13 C T 2: 87,663,959 (GRCm39) T192M probably benign Het
Or4a76 T C 2: 89,460,679 (GRCm39) T188A probably benign Het
Or4c116 T C 2: 88,941,963 (GRCm39) R298G probably benign Het
Pcdhac2 G A 18: 37,278,292 (GRCm39) G424D probably damaging Het
Pex3 T G 10: 13,422,173 (GRCm39) E42D possibly damaging Het
Plxnb1 C T 9: 108,943,311 (GRCm39) probably benign Het
Rpe65 T A 3: 159,312,128 (GRCm39) I209N probably damaging Het
Rsl1 T A 13: 67,330,273 (GRCm39) F240L probably benign Het
Rttn A T 18: 89,128,810 (GRCm39) I1921F probably benign Het
Scn3a A T 2: 65,344,871 (GRCm39) F539Y probably benign Het
Secisbp2 T A 13: 51,836,496 (GRCm39) M767K probably damaging Het
Sipa1l3 C T 7: 29,028,405 (GRCm39) probably null Het
Slfn8 T C 11: 82,894,380 (GRCm39) N753S possibly damaging Het
Spmip6 A G 4: 41,517,080 (GRCm39) V28A probably damaging Het
Sympk T G 7: 18,786,349 (GRCm39) V984G probably damaging Het
Tacr3 A T 3: 134,566,943 (GRCm39) D272V possibly damaging Het
Timd6 A G 11: 46,477,047 (GRCm39) R167G probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Zfp804a T C 2: 81,884,220 (GRCm39) L29P possibly damaging Het
Zfp94 C T 7: 24,003,179 (GRCm39) G88R 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
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
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
Posted On 2015-04-16