Incidental Mutation 'IGL01324:Gda'
ID74154
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 #IGL01324
Quality Score
Status
Chromosome19
Chromosomal Location21391307-21473445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21409886 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 325 (I325K)
Ref Sequence ENSEMBL: ENSMUSP00000084882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087600] [ENSMUST00000121725]
Predicted Effect probably damaging
Transcript: ENSMUST00000087600
AA Change: I325K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084882
Gene: ENSMUSG00000058624
AA Change: I325K

DomainStartEndE-ValueType
Pfam:Amidohydro_1 73 447 6.8e-78 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121725
AA Change: I251K

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112758
Gene: ENSMUSG00000058624
AA Change: I251K

DomainStartEndE-ValueType
Pfam:Amidohydro_1 1 327 5.9e-46 PFAM
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 9,003,032 G560D probably damaging Het
Ap1g1 T A 8: 109,832,782 D239E possibly damaging Het
Ap2a1 T A 7: 44,905,696 T482S probably damaging Het
BC004004 T C 17: 29,282,251 L58P probably damaging Het
Camsap1 C A 2: 25,933,623 V1472L possibly damaging Het
Ces3b A T 8: 105,093,252 E569V probably damaging Het
Commd6 G A 14: 101,640,302 probably benign Het
Ddx54 A G 5: 120,623,638 D493G probably benign Het
Dync1h1 C T 12: 110,626,865 R1189C probably damaging Het
Ern2 T A 7: 122,183,190 I68F possibly damaging Het
Eya4 A G 10: 23,116,551 probably null Het
Gmnn T C 13: 24,752,122 T190A probably benign Het
Hdac4 G A 1: 91,959,415 P801S probably damaging Het
Hnrnph3 A T 10: 63,018,124 *72K probably null Het
Hoxd12 A T 2: 74,675,136 N17I probably damaging Het
Incenp G A 19: 9,883,728 R497C unknown Het
Iqsec1 C A 6: 90,689,703 R584L probably damaging Het
Kcnip1 A G 11: 33,645,603 M1T probably null Het
Kcnu1 T A 8: 25,849,707 S18T probably benign Het
Lepr T A 4: 101,768,068 D473E probably benign Het
Nfkbiz T C 16: 55,815,804 T564A probably damaging Het
Nsd3 C T 8: 25,662,820 T392I probably damaging Het
Olfr1490 T C 19: 13,654,933 I163T probably damaging Het
Olfr713 T C 7: 107,036,847 S231P probably damaging Het
P4ha2 A G 11: 54,120,158 D333G probably damaging Het
Parg T C 14: 32,296,185 probably benign Het
Psmc2 G A 5: 21,800,009 probably null Het
Rnf213 A G 11: 119,447,237 Y3354C probably damaging Het
Siglec1 T G 2: 131,085,541 D115A probably damaging Het
Slit3 G T 11: 35,610,702 G421V probably damaging Het
Srgap3 T A 6: 112,739,397 H590L probably damaging Het
Stk36 A C 1: 74,625,610 T628P possibly damaging Het
Stx12 A T 4: 132,863,265 M107K probably benign Het
Syne2 G T 12: 76,043,752 V5105F probably damaging Het
Tecta T C 9: 42,345,431 S1650G probably damaging Het
Tlr1 T C 5: 64,925,179 N685S probably damaging Het
Trio A G 15: 27,905,323 V60A probably benign Het
Ttyh3 G A 5: 140,631,513 R334W probably benign Het
Ube2u A G 4: 100,479,225 E15G possibly damaging Het
Ush2a G T 1: 188,848,992 V3690L probably benign Het
Xab2 A G 8: 3,621,232 V16A possibly damaging Het
Other mutations in Gda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Gda APN 19 21417065 missense probably damaging 1.00
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
Posted On2013-10-07