Incidental Mutation 'R0139:Nme8'
ID 22204
Institutional Source Beutler Lab
Gene Symbol Nme8
Ensembl Gene ENSMUSG00000041138
Gene Name NME/NM23 family member 8
Synonyms Sptrx-2, 1700056P15Rik, Txndc3
MMRRC Submission 038424-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R0139 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 19829248-19881964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19862018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 204 (I204V)
Ref Sequence ENSEMBL: ENSMUSP00000089358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763] [ENSMUST00000223466]
AlphaFold Q715T0
Predicted Effect probably benign
Transcript: ENSMUST00000039340
AA Change: I204V

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: I204V

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: I204V

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: I204V

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
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 97% (89/92)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik C T 8: 12,329,899 (GRCm39) S118L unknown Het
Adprs A G 4: 126,211,947 (GRCm39) Y122H probably damaging Het
Ankrd52 T C 10: 128,222,007 (GRCm39) S544P probably benign Het
Aopep A G 13: 63,338,298 (GRCm39) N558S probably benign Het
Arhgef7 A G 8: 11,850,503 (GRCm39) E111G probably damaging Het
Atp11a A G 8: 12,896,054 (GRCm39) M755V probably benign Het
Atp2a2 A G 5: 122,629,778 (GRCm39) I97T probably damaging Het
Bmp3 G A 5: 99,027,768 (GRCm39) D463N possibly damaging Het
Cacna2d4 T C 6: 119,255,230 (GRCm39) probably benign Het
Ccdc28a G A 10: 18,106,188 (GRCm39) S46F possibly damaging Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Cenpw T G 10: 30,076,455 (GRCm39) T8P probably benign Het
Cfap44 G C 16: 44,253,785 (GRCm39) G893R possibly damaging Het
Cimap3 A T 3: 105,906,886 (GRCm39) M171K possibly damaging Het
Cops7a A T 6: 124,938,323 (GRCm39) C110S probably damaging Het
Cstl1 A G 2: 148,597,245 (GRCm39) N134S probably damaging Het
Cyp2s1 G T 7: 25,511,114 (GRCm39) probably null Het
Dio2 T A 12: 90,696,617 (GRCm39) N124Y probably damaging Het
Ecel1 C A 1: 87,082,248 (GRCm39) G155V possibly damaging Het
Efr3a G T 15: 65,717,830 (GRCm39) V337F possibly damaging Het
Eva1b A C 4: 126,043,446 (GRCm39) H162P probably damaging Het
Exoc5 C T 14: 49,273,493 (GRCm39) E301K probably damaging Het
F13b G A 1: 139,435,941 (GRCm39) S249N probably damaging Het
Fam120b C T 17: 15,646,446 (GRCm39) probably benign Het
Gbf1 T C 19: 46,250,231 (GRCm39) L396S probably damaging Het
Gck T A 11: 5,859,139 (GRCm39) K143* probably null Het
Gck C A 11: 5,860,370 (GRCm39) V91L probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gm4884 T C 7: 40,692,387 (GRCm39) F119L probably benign Het
Igsf11 T C 16: 38,829,240 (GRCm39) S45P probably damaging Het
Iho1 T C 9: 108,289,695 (GRCm39) T176A probably damaging Het
Il10 G A 1: 130,950,271 (GRCm39) V142M probably damaging Het
Insc A T 7: 114,368,237 (GRCm39) H9L probably damaging Het
Iqsec1 G T 6: 90,786,740 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,050 (GRCm39) S611G possibly damaging Het
Kcnb1 A G 2: 166,947,459 (GRCm39) I463T possibly damaging Het
Lao1 A G 4: 118,821,399 (GRCm39) N90S probably benign Het
Med16 T A 10: 79,732,635 (GRCm39) M710L probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mtus1 G A 8: 41,469,233 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,950,682 (GRCm39) probably benign Het
Ndor1 C T 2: 25,138,366 (GRCm39) V405M possibly damaging Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nup133 A T 8: 124,656,082 (GRCm39) N466K probably benign Het
Nxt1 A G 2: 148,517,390 (GRCm39) T44A probably benign Het
Or14c46 T C 7: 85,918,187 (GRCm39) E270G probably benign Het
Or2ag15 A T 7: 106,340,832 (GRCm39) I103N probably benign Het
Or2y12 C T 11: 49,426,401 (GRCm39) L130F probably benign Het
Or4e1 T C 14: 52,700,669 (GRCm39) T239A probably damaging Het
Or4f7 A T 2: 111,644,699 (GRCm39) I124K possibly damaging Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pced1a T C 2: 130,263,827 (GRCm39) K275R probably benign Het
Pdcd11 A G 19: 47,099,398 (GRCm39) probably null Het
Phldb2 A C 16: 45,591,029 (GRCm39) probably benign Het
Piwil1 C A 5: 128,824,387 (GRCm39) S490Y probably damaging Het
Plekhh3 T C 11: 101,054,501 (GRCm39) probably benign Het
Ppargc1b A T 18: 61,449,034 (GRCm39) probably benign Het
Psg19 C T 7: 18,530,942 (GRCm39) V71I possibly damaging Het
Ptk6 T C 2: 180,838,724 (GRCm39) probably benign Het
Pus7 A G 5: 23,983,090 (GRCm39) S126P probably damaging Het
Rab6b T A 9: 103,017,576 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,272 (GRCm39) R347Q possibly damaging Het
Sanbr A T 11: 23,570,214 (GRCm39) probably benign Het
Sbf1 A T 15: 89,186,701 (GRCm39) L866Q probably damaging Het
Slc25a34 A G 4: 141,349,663 (GRCm39) V164A possibly damaging Het
Smg1 A G 7: 117,751,898 (GRCm39) probably null Het
Spin1 G T 13: 51,303,048 (GRCm39) V214L probably benign Het
Spmip2 A T 3: 79,313,142 (GRCm39) Y72F probably damaging Het
Sptbn1 T C 11: 30,092,289 (GRCm39) N492S probably benign Het
Stk-ps2 A G 1: 46,068,955 (GRCm39) noncoding transcript Het
Taar7f T C 10: 23,926,312 (GRCm39) I302T probably benign Het
Tdrd1 C A 19: 56,831,630 (GRCm39) H340Q probably benign Het
Thumpd3 A G 6: 113,044,762 (GRCm39) D498G probably benign Het
Tpgs2 A G 18: 25,282,242 (GRCm39) L103P probably damaging Het
Trip10 A G 17: 57,568,633 (GRCm39) probably null Het
Trip6 A T 5: 137,310,436 (GRCm39) H269Q probably benign Het
Trmt12 T C 15: 58,744,743 (GRCm39) V47A possibly damaging Het
Trpm7 A T 2: 126,654,691 (GRCm39) S1416T probably benign Het
Tsks G A 7: 44,603,883 (GRCm39) A438T probably benign Het
Ttn T C 2: 76,727,630 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,155 (GRCm39) V136M possibly damaging Het
Uty A C Y: 1,197,223 (GRCm39) Y115D probably damaging Het
Vcan A G 13: 89,839,380 (GRCm39) S2055P probably damaging Het
Yes1 A G 5: 32,842,039 (GRCm39) Q521R possibly damaging Het
Zfp114 A T 7: 23,880,685 (GRCm39) T344S possibly damaging Het
Zfp661 A T 2: 127,420,532 (GRCm39) V89D possibly damaging Het
Zfp91 A T 19: 12,747,834 (GRCm39) Y430N probably damaging 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
IGL02645:Nme8 APN 13 19,844,755 (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
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
Predicted Primers PCR Primer
(F):5'- TCCACTGAAGATGTCCCCAGAGATAC -3'
(R):5'- AGCATTTCAAATTTTGAGGCAGTCCAC -3'

Sequencing Primer
(F):5'- GAGATACCATCTTGGGCATCATC -3'
(R):5'- GAGGCAGTCCACTCTAATAAAAATG -3'
Posted On 2013-04-16