Incidental Mutation 'IGL03306:Cmpk2'
ID416393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmpk2
Ensembl Gene ENSMUSG00000020638
Gene Namecytidine monophosphate (UMP-CMP) kinase 2, mitochondrial
Synonyms1200004E04Rik, Tyki, TDKI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03306
Quality Score
Status
Chromosome12
Chromosomal Location26469204-26479837 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26471443 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 238 (D238G)
Ref Sequence ENSEMBL: ENSMUSP00000020969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020969]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020969
AA Change: D238G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: D238G

DomainStartEndE-ValueType
low complexity region 97 112 N/A INTRINSIC
low complexity region 198 208 N/A INTRINSIC
Pfam:Thymidylate_kin 257 438 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221826
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 one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 T A 7: 76,589,504 F584Y probably damaging Het
Amer2 C A 14: 60,378,552 D65E probably damaging Het
Arhgap28 A T 17: 67,852,935 L623Q probably damaging Het
Cep152 T C 2: 125,605,408 T407A possibly damaging Het
Fam169a C A 13: 97,106,989 Q176K possibly damaging Het
Fbxo17 T A 7: 28,735,357 I189N probably damaging Het
Gm5581 T A 6: 131,168,081 noncoding transcript Het
Gpcpd1 C T 2: 132,534,073 probably null Het
Lhx2 A G 2: 38,354,616 Y123C probably damaging Het
Llgl1 C A 11: 60,711,354 T741N possibly damaging Het
Macc1 A G 12: 119,446,868 Q457R probably benign Het
Mthfd2l A G 5: 91,020,208 T321A probably damaging Het
Myo6 T C 9: 80,246,555 F271S probably damaging Het
Ncoa6 A G 2: 155,405,507 V1959A probably benign Het
Npsr1 A G 9: 24,313,239 D304G probably benign Het
Nup205 T C 6: 35,208,169 V841A probably damaging Het
Olfr352 A T 2: 36,870,525 probably benign Het
Olfr95 A G 17: 37,211,677 Y59H probably damaging Het
Osbpl9 A G 4: 109,172,332 probably benign Het
Pdgfra A G 5: 75,192,533 N995D possibly damaging Het
Ptgs1 A T 2: 36,237,705 H92L probably damaging Het
Rasd1 T A 11: 59,964,355 I100F possibly damaging Het
Rbm26 T C 14: 105,151,322 T378A probably damaging Het
Slc12a3 T C 8: 94,351,758 S805P possibly damaging Het
Smarcal1 G A 1: 72,626,466 V708I probably benign Het
Strn A G 17: 78,667,223 S408P probably damaging Het
Suclg1 A G 6: 73,270,992 N232S probably benign Het
Tmbim1 A G 1: 74,293,066 Y101H probably damaging Het
Ube3a T A 7: 59,286,147 L614Q probably damaging Het
Wrn A G 8: 33,336,121 L171P probably damaging Het
Zfp335 T C 2: 164,895,984 probably benign Het
Other mutations in Cmpk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Cmpk2 APN 12 26477178 missense probably damaging 1.00
R0090:Cmpk2 UTSW 12 26478022 missense probably benign 0.00
R0245:Cmpk2 UTSW 12 26469518 missense probably benign 0.01
R0369:Cmpk2 UTSW 12 26477151 nonsense probably null
R0610:Cmpk2 UTSW 12 26478056 missense possibly damaging 0.84
R1370:Cmpk2 UTSW 12 26471452 missense probably damaging 1.00
R1897:Cmpk2 UTSW 12 26474047 missense probably damaging 1.00
R4181:Cmpk2 UTSW 12 26477047 missense probably damaging 0.97
R4210:Cmpk2 UTSW 12 26469571 missense probably benign 0.00
R4544:Cmpk2 UTSW 12 26478017 missense probably damaging 1.00
R5689:Cmpk2 UTSW 12 26469767 missense probably benign 0.10
R6378:Cmpk2 UTSW 12 26469416 missense possibly damaging 0.49
R6383:Cmpk2 UTSW 12 26478020 missense probably benign 0.05
R6597:Cmpk2 UTSW 12 26474145 missense possibly damaging 0.95
R6978:Cmpk2 UTSW 12 26477019 missense probably damaging 1.00
R7332:Cmpk2 UTSW 12 26478062 missense probably damaging 1.00
Posted On2016-08-02