Incidental Mutation 'IGL00753:Gdpd3'
ID 12631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdpd3
Ensembl Gene ENSMUSG00000030703
Gene Name glycerophosphodiester phosphodiesterase domain containing 3
Synonyms 1110015E22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00753
Quality Score
Status
Chromosome 7
Chromosomal Location 126365586-126374817 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 126366598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 118 (Y118*)
Ref Sequence ENSEMBL: ENSMUSP00000032944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]
AlphaFold Q99LY2
Predicted Effect probably null
Transcript: ENSMUST00000032944
AA Change: Y118*
SMART Domains Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
AA Change: Y118*

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Pfam:GDPD 44 202 1.1e-23 PFAM
low complexity region 208 216 N/A INTRINSIC
low complexity region 311 321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050201
SMART Domains Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
S_TKc 43 331 3.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057669
SMART Domains Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
S_TKc 43 331 3.3e-97 SMART
Blast:S_TKc 335 372 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000091328
SMART Domains Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 213 2.5e-24 PFAM
Pfam:Pkinase 1 216 2.2e-58 PFAM
Pfam:APH 17 108 7.6e-7 PFAM
Blast:S_TKc 220 257 4e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207004
Predicted Effect probably benign
Transcript: ENSMUST00000205657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206858
Predicted Effect probably benign
Transcript: ENSMUST00000206272
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad5 C A 11: 80,023,684 (GRCm39) Q1596K probably benign Het
Bcl9l C A 9: 44,416,924 (GRCm39) T254K possibly damaging Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Csmd3 A G 15: 47,507,631 (GRCm39) Y2961H probably damaging Het
Dop1b A G 16: 93,566,512 (GRCm39) T980A probably benign Het
Ift140 T A 17: 25,274,618 (GRCm39) F763L probably damaging Het
Igfn1 G T 1: 135,894,464 (GRCm39) P2034H probably damaging Het
Msantd2 T C 9: 37,434,845 (GRCm39) probably benign Het
Myo18a T C 11: 77,715,977 (GRCm39) S864P probably damaging Het
Plbd1 A C 6: 136,611,468 (GRCm39) Y270D probably benign Het
Plcl1 T C 1: 55,735,897 (GRCm39) S413P probably damaging Het
Scn2a A G 2: 65,514,207 (GRCm39) N297S possibly damaging Het
Tbc1d17 T C 7: 44,492,509 (GRCm39) T385A probably benign Het
Thsd7a C T 6: 12,327,528 (GRCm39) C1448Y probably damaging Het
Tnpo3 T A 6: 29,565,786 (GRCm39) I523F probably benign Het
Vps13b C T 15: 35,372,177 (GRCm39) S24L probably damaging Het
Wdr37 G A 13: 8,911,210 (GRCm39) R18C probably damaging Het
Zfyve16 T A 13: 92,657,626 (GRCm39) K762* probably null Het
Zmym2 T A 14: 57,194,517 (GRCm39) C1258* probably null Het
Zswim5 T C 4: 116,842,933 (GRCm39) W893R possibly damaging Het
Other mutations in Gdpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Gdpd3 APN 7 126,366,997 (GRCm39) missense probably benign 0.01
IGL01433:Gdpd3 APN 7 126,370,356 (GRCm39) missense possibly damaging 0.82
IGL01465:Gdpd3 APN 7 126,367,829 (GRCm39) missense possibly damaging 0.63
IGL01736:Gdpd3 APN 7 126,365,695 (GRCm39) missense probably damaging 0.99
PIT4431001:Gdpd3 UTSW 7 126,365,647 (GRCm39) missense probably benign 0.05
R0118:Gdpd3 UTSW 7 126,370,165 (GRCm39) missense probably damaging 1.00
R0311:Gdpd3 UTSW 7 126,366,361 (GRCm39) missense possibly damaging 0.79
R2049:Gdpd3 UTSW 7 126,367,766 (GRCm39) missense probably damaging 0.99
R4976:Gdpd3 UTSW 7 126,366,454 (GRCm39) missense probably damaging 1.00
R6151:Gdpd3 UTSW 7 126,374,674 (GRCm39) missense probably benign 0.00
R6170:Gdpd3 UTSW 7 126,370,336 (GRCm39) missense probably benign 0.04
R6898:Gdpd3 UTSW 7 126,370,201 (GRCm39) nonsense probably null
R8236:Gdpd3 UTSW 7 126,367,838 (GRCm39) missense probably benign 0.26
Posted On 2012-12-06