Incidental Mutation 'IGL01662:Nme7'
ID103189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nme7
Ensembl Gene ENSMUSG00000026575
Gene NameNME/NM23 family member 7
Synonymsnon-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase), nucleoside-diphosphate kinase, D530024H21Rik, Nm23-M7
Accession Numbers

Genbank: NM_178071; MGI: 2449121

Is this an essential gene? Possibly non essential (E-score: 0.254) question?
Stock #IGL01662
Quality Score
Status
Chromosome1
Chromosomal Location164304121-164437725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164328297 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 22 (Q22R)
Ref Sequence ENSEMBL: ENSMUSP00000141771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086028] [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]
Predicted Effect probably benign
Transcript: ENSMUST00000086028
AA Change: Q22R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000083192
Gene: ENSMUSG00000026575
AA Change: Q22R

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191947
AA Change: Q22R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575
AA Change: Q22R

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193237
Predicted Effect probably benign
Transcript: ENSMUST00000193683
AA Change: Q22R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575
AA Change: Q22R

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193808
AA Change: Q22R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575
AA Change: Q22R

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195474
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 member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mice exhibit hydrocephaly, domed skulls and 50% exhibit situs inversus. [provided by MGI curators]
Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,538,288 I402F probably damaging Het
Acvr2b T C 9: 119,432,504 Y388H probably damaging Het
Adh1 G A 3: 138,282,751 D162N possibly damaging Het
C6 G T 15: 4,792,754 R585I probably damaging Het
Ccdc169 T A 3: 55,163,311 probably null Het
Cdh13 T A 8: 118,675,177 M106K probably damaging Het
Cep78 C T 19: 15,960,995 E530K probably damaging Het
Cyfip1 T A 7: 55,896,739 L533Q probably damaging Het
Etl4 T C 2: 20,806,649 V1181A probably benign Het
Fam105a C T 15: 27,658,065 D290N probably damaging Het
Fam122a A G 19: 24,476,584 V258A probably benign Het
Galnt7 T G 8: 57,531,735 probably benign Het
Gm11595 G A 11: 99,772,672 R61C unknown Het
Gucy1a1 T A 3: 82,109,253 I143F possibly damaging Het
Hmcn1 T C 1: 150,737,299 N1410D possibly damaging Het
Ltbp2 G A 12: 84,809,246 T741I probably benign Het
Mdc1 T C 17: 35,852,505 S982P probably benign Het
Mfsd4b2 A G 10: 39,922,197 probably benign Het
Mrgprb5 T G 7: 48,168,424 I188L probably benign Het
Naip6 T A 13: 100,300,354 S554C probably damaging Het
Nav2 A G 7: 49,571,209 N1715D probably damaging Het
Nav3 A T 10: 109,769,258 S985T possibly damaging Het
Olfr556 T C 7: 102,670,720 W267R probably damaging Het
Ppp1r9a A G 6: 5,115,322 E815G probably damaging Het
Ppp2r2c T A 5: 36,926,400 I95N probably damaging Het
Ppp4r4 G A 12: 103,602,966 E717K possibly damaging Het
Prdm2 A G 4: 143,133,568 S1051P possibly damaging Het
Rnf214 T C 9: 45,899,786 D193G probably damaging Het
Sirpb1b G T 3: 15,543,184 T167K probably damaging Het
Slc16a3 C A 11: 120,956,706 S240* probably null Het
Snx14 T A 9: 88,385,838 probably benign Het
Sorbs2 A G 8: 45,803,829 probably benign Het
Stk-ps2 A T 1: 46,029,362 noncoding transcript Het
Taar7b A T 10: 23,999,976 D13V probably benign Het
Trp53bp1 T C 2: 121,236,025 E740G probably damaging Het
Unc79 C T 12: 103,149,020 A2054V possibly damaging Het
Zfp106 A G 2: 120,523,553 V211A probably benign Het
Zfp112 A G 7: 24,125,954 H449R probably benign Het
Other mutations in Nme7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Nme7 APN 1 164345430 splice site probably null
IGL01893:Nme7 APN 1 164345281 missense probably damaging 0.99
2107:Nme7 UTSW 1 164345353 missense possibly damaging 0.94
R0255:Nme7 UTSW 1 164345375 missense probably damaging 1.00
R3545:Nme7 UTSW 1 164385782 missense probably damaging 0.99
R4380:Nme7 UTSW 1 164345238 missense probably benign 0.35
R5177:Nme7 UTSW 1 164380676 nonsense probably null
R7454:Nme7 UTSW 1 164380648 nonsense probably null
R8267:Nme7 UTSW 1 164340775 missense probably benign 0.37
Posted On2014-01-21