Incidental Mutation 'IGL01134:Gda'
ID53288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gda
Ensembl Gene ENSMUSG00000058624
Gene Nameguanine deaminase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01134
Quality Score
Status
Chromosome19
Chromosomal Location21391307-21473445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21417065 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 143 (S143P)
Ref Sequence ENSEMBL: ENSMUSP00000112758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087600] [ENSMUST00000121725]
Predicted Effect probably damaging
Transcript: ENSMUST00000087600
AA Change: S217P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084882
Gene: ENSMUSG00000058624
AA Change: S217P

DomainStartEndE-ValueType
Pfam:Amidohydro_1 73 447 6.8e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121725
AA Change: S143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112758
Gene: ENSMUSG00000058624
AA Change: S143P

DomainStartEndE-ValueType
Pfam:Amidohydro_1 1 327 5.9e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136258
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 an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acaca T G 11: 84,251,279 H637Q probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap6 C A 12: 52,937,217 A848E probably damaging Het
Cxxc4 A G 3: 134,240,659 I334V probably null Het
Cyp2b13 T A 7: 26,081,700 I179N probably damaging Het
Cyp2d40 C A 15: 82,760,901 A183S unknown Het
Cyp2g1 A G 7: 26,809,831 N110S probably benign Het
F5 A T 1: 164,191,979 R674S possibly damaging Het
Fnip2 G T 3: 79,512,503 Y155* probably null Het
Fut9 G T 4: 25,620,446 Q123K probably benign Het
Gpr162 T C 6: 124,858,857 probably null Het
Hsf2bp A G 17: 31,987,404 L251S probably damaging Het
Hsh2d A T 8: 72,193,531 D24V probably damaging Het
Htr1f T A 16: 64,926,138 T264S probably benign Het
Med12l G A 3: 59,042,275 E151K possibly damaging Het
Mgat3 C A 15: 80,212,176 N401K probably benign Het
Mmp27 T G 9: 7,573,297 M130R probably benign Het
Mroh2b T A 15: 4,915,152 S412T probably benign Het
Mrps9 A G 1: 42,903,397 I338M probably damaging Het
Mtmr4 C T 11: 87,604,067 T395M probably damaging Het
Nlrp9b A G 7: 20,023,187 I116M probably benign Het
Nqo1 T C 8: 107,388,955 D230G probably benign Het
Pcnx2 C T 8: 125,863,150 V795I probably benign Het
Pde8a G A 7: 81,319,078 R449Q possibly damaging Het
Scn9a A G 2: 66,504,968 Y1226H probably damaging Het
Sema3e A G 5: 14,252,770 R770G probably damaging Het
Smr2 T C 5: 88,108,519 S19P probably damaging Het
Trank1 T C 9: 111,391,781 S2529P probably benign Het
Uspl1 T A 5: 149,204,293 F367L probably damaging Het
Vps41 A G 13: 18,866,150 S838G probably benign Het
Ythdf2 A T 4: 132,205,478 F124I probably damaging Het
Other mutations in Gda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Gda APN 19 21409886 missense probably damaging 0.98
IGL02814:Gda APN 19 21428475 splice site probably null
IGL03037:Gda APN 19 21434309 missense possibly damaging 0.89
IGL03274:Gda APN 19 21417007 missense possibly damaging 0.88
R0106:Gda UTSW 19 21397556 missense probably benign 0.02
R0106:Gda UTSW 19 21397556 missense probably benign 0.02
R0312:Gda UTSW 19 21417005 missense probably damaging 1.00
R0432:Gda UTSW 19 21417107 missense probably damaging 0.98
R0529:Gda UTSW 19 21425537 missense probably damaging 1.00
R0600:Gda UTSW 19 21434303 missense possibly damaging 0.70
R0690:Gda UTSW 19 21409887 missense probably benign
R1522:Gda UTSW 19 21412539 missense probably benign
R1652:Gda UTSW 19 21400678 missense probably damaging 0.99
R1917:Gda UTSW 19 21397640 splice site probably benign
R2078:Gda UTSW 19 21400672 missense probably damaging 1.00
R2153:Gda UTSW 19 21397505 critical splice donor site probably null
R3951:Gda UTSW 19 21472445 missense probably benign 0.27
R4707:Gda UTSW 19 21428628 missense probably benign 0.00
R5554:Gda UTSW 19 21428473 splice site probably null
R5620:Gda UTSW 19 21397544 missense probably damaging 1.00
R7186:Gda UTSW 19 21395205 missense probably benign 0.12
R7386:Gda UTSW 19 21409886 missense probably benign 0.04
R7408:Gda UTSW 19 21428624 missense probably damaging 1.00
R8315:Gda UTSW 19 21417071 missense probably benign 0.00
Posted On2013-06-21