Incidental Mutation 'IGL00983:Nme5'
ID 306661
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nme5
Ensembl Gene ENSMUSG00000035984
Gene Name NME/NM23 family member 5
Synonyms non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase), Nm23-M5, 1700019D05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00983
Quality Score
Status
Chromosome 18
Chromosomal Location 34695687-34712168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34700181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 155 (Q155K)
Ref Sequence ENSEMBL: ENSMUSP00000078269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079287] [ENSMUST00000134875] [ENSMUST00000154342] [ENSMUST00000155114]
AlphaFold Q99MH5
Predicted Effect probably benign
Transcript: ENSMUST00000079287
AA Change: Q155K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000078269
Gene: ENSMUSG00000035984
AA Change: Q155K

DomainStartEndE-ValueType
NDK 12 150 1.9e-62 SMART
Pfam:Dpy-30 156 197 7.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134875
SMART Domains Protein: ENSMUSP00000118213
Gene: ENSMUSG00000035984

DomainStartEndE-ValueType
NDK 12 113 2.91e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154342
SMART Domains Protein: ENSMUSP00000117443
Gene: ENSMUSG00000035984

DomainStartEndE-ValueType
NDK 12 113 2.91e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155114
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice exhibit hydrocephaly and male spermatogenesis defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,438 (GRCm39) Q307* probably null Het
Acss3 A T 10: 106,802,825 (GRCm39) C473* probably null Het
Adgrg1 T A 8: 95,731,871 (GRCm39) S178T probably damaging Het
Anxa7 C A 14: 20,508,749 (GRCm39) L386F possibly damaging Het
Calcrl T C 2: 84,200,798 (GRCm39) E82G probably benign Het
Ccr9 C T 9: 123,608,351 (GRCm39) P11L probably benign Het
Cep164 C A 9: 45,686,554 (GRCm39) V887L possibly damaging Het
Dctn6 A G 8: 34,559,747 (GRCm39) L136P probably damaging Het
Dnase1 T C 16: 3,857,417 (GRCm39) V238A possibly damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbxo31 A T 8: 122,281,069 (GRCm39) V359D possibly damaging Het
Gpr182 A G 10: 127,586,657 (GRCm39) I98T possibly damaging Het
Gspt1 C T 16: 11,048,861 (GRCm39) probably benign Het
Itgam C A 7: 127,667,839 (GRCm39) T70K probably damaging Het
Itpr2 A G 6: 146,212,479 (GRCm39) probably benign Het
Kank3 T A 17: 34,040,791 (GRCm39) M458K probably damaging Het
Kcnd2 A G 6: 21,714,153 (GRCm39) K379E possibly damaging Het
Macf1 C T 4: 123,275,915 (GRCm39) V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 (GRCm39) L3397S probably damaging Het
Msh3 A T 13: 92,436,785 (GRCm39) N508K probably damaging Het
Mttp C A 3: 137,820,890 (GRCm39) probably benign Het
Or13p3 A T 4: 118,567,119 (GRCm39) N172Y probably damaging Het
Or2r11 A T 6: 42,437,029 (GRCm39) I308N probably benign Het
Or52b4i T A 7: 102,191,593 (GRCm39) I150N possibly damaging Het
Pfkp A T 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pkd1l1 T A 11: 8,794,585 (GRCm39) T1859S probably benign Het
Pmvk T C 3: 89,374,890 (GRCm39) W96R probably damaging Het
Prdx6b T A 2: 80,123,539 (GRCm39) M116K probably damaging Het
Ptpro A C 6: 137,395,246 (GRCm39) L876F probably benign Het
Sdcbp G T 4: 6,392,953 (GRCm39) E197* probably null Het
Serpinb1c A T 13: 33,068,207 (GRCm39) S188R possibly damaging Het
Sorcs1 A T 19: 50,164,566 (GRCm39) D988E probably damaging Het
Tmbim1 C A 1: 74,334,422 (GRCm39) G46V probably damaging Het
Ubl4b C T 3: 107,461,756 (GRCm39) G168E unknown Het
Vmn2r91 T C 17: 18,325,820 (GRCm39) F146S probably benign Het
Zdhhc20 T C 14: 58,076,613 (GRCm39) N335D possibly damaging Het
Zzz3 T G 3: 152,161,447 (GRCm39) probably benign Het
Other mutations in Nme5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Nme5 APN 18 34,711,712 (GRCm39) splice site probably null
IGL01982:Nme5 APN 18 34,702,928 (GRCm39) missense probably damaging 0.96
IGL02336:Nme5 APN 18 34,711,730 (GRCm39) missense probably benign 0.35
IGL02897:Nme5 APN 18 34,702,956 (GRCm39) intron probably benign
aesthenic UTSW 18 34,711,738 (GRCm39) start codon destroyed probably null 1.00
R1209:Nme5 UTSW 18 34,702,949 (GRCm39) missense probably damaging 1.00
R1221:Nme5 UTSW 18 34,704,575 (GRCm39) missense probably damaging 1.00
R3855:Nme5 UTSW 18 34,702,884 (GRCm39) missense possibly damaging 0.48
R4729:Nme5 UTSW 18 34,702,890 (GRCm39) missense probably benign
R5010:Nme5 UTSW 18 34,711,738 (GRCm39) start codon destroyed probably null 1.00
R6658:Nme5 UTSW 18 34,711,639 (GRCm39) missense probably damaging 1.00
R6820:Nme5 UTSW 18 34,704,626 (GRCm39) missense probably damaging 1.00
R7593:Nme5 UTSW 18 34,700,201 (GRCm39) missense probably benign 0.00
R9321:Nme5 UTSW 18 34,704,597 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16