Incidental Mutation 'IGL02807:Nme8'
ID 360473
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
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock # IGL02807
Quality Score
Status
Chromosome 13
Chromosomal Location 19645078-19697794 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 19675831 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763] [ENSMUST00000223466]
AlphaFold Q715T0
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 probably benign
Transcript: ENSMUST00000091763
SMART Domains Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138

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
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 C A 13: 70,738,778 probably null Het
Ankra2 T C 13: 98,271,742 L73P probably damaging Het
Ankrd63 G T 2: 118,703,308 probably benign Het
Cars A T 7: 143,569,472 I469N possibly damaging Het
Chn2 A G 6: 54,295,913 E183G possibly damaging Het
Fstl4 A T 11: 53,186,674 T753S probably benign Het
Igf2r G T 17: 12,719,883 N511K probably damaging Het
Il12rb2 A T 6: 67,351,316 I310N probably damaging Het
Kcnc3 C A 7: 44,595,957 P557Q probably damaging Het
Mrps36 A G 13: 100,741,166 probably null Het
Mug1 A G 6: 121,886,572 T1410A probably damaging Het
Olfr1423 A G 19: 12,036,284 F153L probably benign Het
Olfr365 A C 2: 37,201,574 N111T probably damaging Het
Olfr620 A T 7: 103,611,991 S121T probably benign Het
Olfr883 C T 9: 38,026,189 P128S probably damaging Het
Pcm1 A G 8: 41,330,882 E2005G probably damaging Het
Phtf1 T G 3: 103,997,553 S506A probably benign Het
Plpp5 G T 8: 25,721,165 probably benign Het
Rapgef4 G T 2: 72,205,649 probably benign Het
Syt15 G A 14: 34,222,913 G139D probably benign Het
Trpm8 T C 1: 88,348,108 L476P probably damaging Het
Virma G A 4: 11,507,079 probably benign Het
Vmn1r170 T A 7: 23,606,335 I54N probably damaging Het
Vmn2r98 G A 17: 19,081,021 A762T probably damaging 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
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
R8108:Nme8 UTSW 13 19650960 missense probably benign 0.00
R8331:Nme8 UTSW 13 19658866 missense probably damaging 1.00
R8413:Nme8 UTSW 13 19674519 missense probably benign 0.01
R8808:Nme8 UTSW 13 19675808 missense probably damaging 1.00
R9227:Nme8 UTSW 13 19690214 missense probably benign
R9230:Nme8 UTSW 13 19690214 missense probably benign
R9422:Nme8 UTSW 13 19675748 missense probably benign 0.01
Z1088:Nme8 UTSW 13 19688957 missense possibly damaging 0.82
Posted On 2015-12-18