Incidental Mutation 'IGL02645:Nme8'
ID301916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nme8
Ensembl Gene ENSMUSG00000041138
Gene NameNME/NM23 family member 8
SynonymsSptrx-2, 1700056P15Rik, Txndc3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL02645
Quality Score
Status
Chromosome13
Chromosomal Location19645078-19697794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19660585 bp
ZygosityHeterozygous
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]
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
1110017D15Rik A G 4: 41,517,080 V28A probably damaging Het
Ang4 T C 14: 51,764,347 Y48C probably damaging Het
Aox2 T A 1: 58,334,724 M848K probably damaging Het
Apol7c A T 15: 77,528,883 S56T probably benign Het
Asic4 G A 1: 75,473,354 probably benign Het
Asxl1 A G 2: 153,392,857 K162R possibly damaging Het
BC053393 A G 11: 46,586,220 R167G probably benign Het
Car12 T A 9: 66,747,679 H130Q probably benign Het
Cars T C 7: 143,557,909 E737G probably damaging Het
Ccdc141 G A 2: 77,074,867 R412* probably null Het
Cd36 T C 5: 17,785,880 T421A probably benign Het
Clasp2 T G 9: 113,890,061 M758R probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ebf4 A G 2: 130,361,841 K471E probably damaging Het
Fat2 T A 11: 55,282,828 D2353V probably damaging Het
Gm10136 A G 19: 29,003,740 probably benign Het
Intu A G 3: 40,701,272 I930V probably benign Het
Ndrg2 T A 14: 51,906,522 M300L possibly damaging Het
Nhs A G X: 162,159,058 S111P probably benign Het
Nol8 T A 13: 49,665,471 probably null Het
Olfr1148 C T 2: 87,833,615 T192M probably benign Het
Olfr1221 T C 2: 89,111,619 R298G probably benign Het
Olfr1249 T C 2: 89,630,335 T188A probably benign Het
Olfr1511 T A 14: 52,390,501 T91S possibly damaging Het
Pcdhac2 G A 18: 37,145,239 G424D probably damaging Het
Pex3 T G 10: 13,546,429 E42D possibly damaging Het
Plxnb1 C T 9: 109,114,243 probably benign Het
Rpe65 T A 3: 159,606,491 I209N probably damaging Het
Rsl1 T A 13: 67,182,209 F240L probably benign Het
Rttn A T 18: 89,110,686 I1921F probably benign Het
Scn3a A T 2: 65,514,527 F539Y probably benign Het
Secisbp2 T A 13: 51,682,460 M767K probably damaging Het
Sipa1l3 C T 7: 29,328,980 probably null Het
Slfn8 T C 11: 83,003,554 N753S possibly damaging Het
Sympk T G 7: 19,052,424 V984G probably damaging Het
Tacr3 A T 3: 134,861,182 D272V possibly damaging Het
Tnpo3 G T 6: 29,562,900 S606* probably null Het
Zfp804a T C 2: 82,053,876 L29P possibly damaging Het
Zfp94 C T 7: 24,303,754 G88R probably benign Het
Other mutations in Nme8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Nme8 APN 13 19688980 missense probably damaging 1.00
IGL02272:Nme8 APN 13 19658826 missense probably damaging 0.99
IGL02344:Nme8 APN 13 19674404 missense possibly damaging 0.94
IGL02395:Nme8 APN 13 19677908 missense possibly damaging 0.64
IGL02621:Nme8 APN 13 19675648 missense probably damaging 1.00
IGL02807:Nme8 APN 13 19675831 unclassified probably benign
IGL03059:Nme8 APN 13 19652244 missense possibly damaging 0.92
IGL03288:Nme8 APN 13 19696606 missense possibly damaging 0.94
IGL03323:Nme8 APN 13 19688950 missense probably benign 0.06
R0139:Nme8 UTSW 13 19677848 missense probably benign 0.19
R0616:Nme8 UTSW 13 19690859 missense probably benign 0.00
R0632:Nme8 UTSW 13 19658036 missense probably damaging 0.96
R1233:Nme8 UTSW 13 19660512 missense possibly damaging 0.71
R1288:Nme8 UTSW 13 19674449 missense possibly damaging 0.87
R1305:Nme8 UTSW 13 19696907 missense possibly damaging 0.90
R1773:Nme8 UTSW 13 19697036 start codon destroyed probably damaging 1.00
R1942:Nme8 UTSW 13 19675808 missense probably damaging 1.00
R1970:Nme8 UTSW 13 19652322 missense probably damaging 1.00
R2012:Nme8 UTSW 13 19696883 missense probably damaging 1.00
R2093:Nme8 UTSW 13 19650872 missense probably damaging 1.00
R2392:Nme8 UTSW 13 19688943 critical splice donor site probably null
R2436:Nme8 UTSW 13 19677859 missense probably damaging 1.00
R2901:Nme8 UTSW 13 19675664 missense probably benign 0.02
R2902:Nme8 UTSW 13 19675664 missense probably benign 0.02
R4665:Nme8 UTSW 13 19674435 missense probably damaging 1.00
R4751:Nme8 UTSW 13 19675638 critical splice donor site probably null
R4785:Nme8 UTSW 13 19657930 missense probably damaging 0.96
R5101:Nme8 UTSW 13 19690847 critical splice donor site probably null
R5217:Nme8 UTSW 13 19696691 missense probably damaging 1.00
R5251:Nme8 UTSW 13 19660625 missense probably benign 0.33
R5356:Nme8 UTSW 13 19652299 missense probably damaging 1.00
R5397:Nme8 UTSW 13 19694379 missense probably damaging 1.00
R5624:Nme8 UTSW 13 19677868 missense possibly damaging 0.94
R6679:Nme8 UTSW 13 19690970 splice site probably null
R7040:Nme8 UTSW 13 19694328 missense probably damaging 1.00
R7111:Nme8 UTSW 13 19675647 missense probably benign 0.06
R7185:Nme8 UTSW 13 19677883 missense probably damaging 1.00
R7670:Nme8 UTSW 13 19658829 missense probably benign 0.01
R7685:Nme8 UTSW 13 19650975 missense probably benign 0.00
Z1088:Nme8 UTSW 13 19688957 missense possibly damaging 0.82
Posted On2015-04-16