Incidental Mutation 'IGL03323:Nme8'
ID416556
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: 0.104) question?
Stock #IGL03323
Quality Score
Status
Chromosome13
Chromosomal Location19645078-19697794 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 19688950 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 175 (E175K)
Ref Sequence ENSEMBL: ENSMUSP00000089358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763]
Predicted Effect probably benign
Transcript: ENSMUST00000039340
AA Change: E175K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: E175K

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
AA Change: E175K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: E175K

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,055,294 D418V probably damaging Het
Ahdc1 G A 4: 133,065,428 G1327S probably benign Het
Bcl2l15 A T 3: 103,833,403 I62L probably benign Het
Ccdc7a A T 8: 129,058,763 D105E probably benign Het
Cldn12 C A 5: 5,508,421 G2V probably damaging Het
Eapp G T 12: 54,673,615 H272N probably damaging Het
Fcrla A G 1: 170,927,545 probably benign Het
Fmnl3 C T 15: 99,321,281 G787S probably damaging Het
Fmo5 G T 3: 97,639,007 probably null Het
Golgb1 G T 16: 36,913,453 E1021* probably null Het
Hspa4 A T 11: 53,265,133 N648K probably benign Het
Iigp1 T C 18: 60,389,824 F5L probably benign Het
Lad1 T A 1: 135,830,974 probably null Het
Man2b2 T C 5: 36,818,514 D399G probably benign Het
Mc5r C T 18: 68,339,215 T215I probably benign Het
Mx2 A G 16: 97,546,375 S156G probably damaging Het
Necap2 A T 4: 141,068,222 I242N possibly damaging Het
Notch4 T A 17: 34,582,471 C1098S probably damaging Het
Olfr345 T A 2: 36,640,141 M34K possibly damaging Het
Olfr8 T C 10: 78,955,600 Y132H probably benign Het
Osbpl9 A G 4: 109,062,459 probably benign Het
Prag1 T C 8: 36,140,008 S968P probably damaging Het
Qsox2 A G 2: 26,220,979 S125P probably benign Het
Rptn A G 3: 93,397,153 T598A probably benign Het
Slc2a2 G A 3: 28,726,290 M375I probably damaging Het
Tmed9 C T 13: 55,596,878 T173I probably damaging Het
Trank1 A G 9: 111,352,116 D402G probably damaging Het
Ttc21a G T 9: 119,940,536 probably benign Het
Vmn2r58 T C 7: 41,861,871 M503V 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
IGL03059:Nme8 APN 13 19652244 missense possibly damaging 0.92
IGL03288:Nme8 APN 13 19696606 missense possibly damaging 0.94
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 On2016-08-02