Incidental Mutation 'IGL03059:Nme8'
ID409382
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: 0.112) question?
Stock #IGL03059
Quality Score
Status
Chromosome13
Chromosomal Location19645078-19697794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 19652244 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 254 (I254T)
Ref Sequence ENSEMBL: ENSMUSP00000152780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763] [ENSMUST00000223466]
Predicted Effect probably benign
Transcript: ENSMUST00000039340
SMART Domains Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138

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: I493T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: I493T

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 possibly damaging
Transcript: ENSMUST00000223466
AA Change: I254T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,899,005 V244A possibly damaging Het
Ccdc187 C A 2: 26,294,241 R48M probably null Het
Cnga2 G A X: 72,008,272 R251H probably damaging Het
Cop1 A C 1: 159,306,709 K174Q probably damaging Het
Cul9 T C 17: 46,538,987 D512G probably damaging Het
Flt4 G A 11: 49,642,307 A1140T probably damaging Het
Galnt3 C T 2: 66,093,610 R438H probably damaging Het
Gatm G A 2: 122,609,700 A86V probably damaging Het
Klhl28 C T 12: 64,951,566 A385T probably benign Het
Klhl40 T A 9: 121,778,137 V121E probably damaging Het
L1cam T A X: 73,867,024 H30L probably benign Het
Lss A T 10: 76,532,026 probably benign Het
Mrnip A T 11: 50,199,769 Q253H probably damaging Het
Mroh9 A T 1: 163,024,636 F828Y possibly damaging Het
Mst1 T C 9: 108,084,813 C668R probably damaging Het
Nadk A G 4: 155,586,796 E143G probably benign Het
Nap1l4 C T 7: 143,527,165 probably null Het
Olfr1382 A G 11: 49,535,194 Y3C probably benign Het
Olfr295 A G 7: 86,585,571 I99V probably benign Het
Olfr374 T A 8: 72,109,998 L144Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkd1l3 C T 8: 109,648,367 L1491F probably damaging Het
Plec G T 15: 76,175,768 T3488N probably damaging Het
Plk2 T G 13: 110,399,134 S497A probably benign Het
Polr1a G A 6: 71,936,512 V617I probably benign Het
Prelid3a C A 18: 67,476,839 Y112* probably null Het
Rnf113a2 C A 12: 84,417,476 S47R possibly damaging Het
Rtel1 A G 2: 181,350,183 N410D probably benign Het
Ryr3 C T 2: 112,800,047 A2140T probably damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Sphkap T A 1: 83,257,242 Q1621L probably damaging Het
Svs1 A T 6: 48,987,415 Y119F probably benign Het
Tcrg-C1 A T 13: 19,215,902 K123* probably null Het
Ttn T A 2: 76,909,519 S3559C probably benign Het
Ubr4 C T 4: 139,480,676 R4923W probably damaging Het
Vac14 T C 8: 110,710,452 L599P probably damaging Het
Wdr5 T C 2: 27,519,734 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
IGL02645:Nme8 APN 13 19660585 missense probably damaging 1.00
IGL02807:Nme8 APN 13 19675831 unclassified probably benign
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
Z1088:Nme8 UTSW 13 19688957 missense possibly damaging 0.82
Posted On2016-08-02