Incidental Mutation 'IGL02393:Pdzd9'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzd9
Ensembl Gene ENSMUSG00000030887
Gene NamePDZ domain containing 9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02393
Quality Score
Chromosomal Location120658731-120670343 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to C at 120662983 bp
Amino Acid Change Tyrosine to Stop codon at position 85 (Y85*)
Ref Sequence ENSEMBL: ENSMUSP00000033178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033176] [ENSMUST00000033178] [ENSMUST00000127845] [ENSMUST00000208635]
PDB Structure
The solution structure of RSGI RUH-020, a PDZ domain of hypothetical protein from mouse [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000033176
SMART Domains Protein: ENSMUSP00000033176
Gene: ENSMUSG00000030884

Pfam:Peptidase_M16 48 194 3.2e-33 PFAM
Pfam:Peptidase_M16_C 199 378 2.2e-26 PFAM
low complexity region 417 430 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000033178
AA Change: Y85*
SMART Domains Protein: ENSMUSP00000033178
Gene: ENSMUSG00000030887
AA Change: Y85*

PDZ 38 111 2.97e-8 SMART
low complexity region 231 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127845
Predicted Effect probably benign
Transcript: ENSMUST00000208635
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,687,368 I253M probably damaging Het
Adam32 A T 8: 24,920,053 Y129N probably damaging Het
Afap1l2 T C 19: 56,914,440 K695R probably damaging Het
Arhgap18 T G 10: 26,877,183 S357R probably benign Het
Camsap1 T C 2: 25,938,322 H1130R probably benign Het
Cdkl4 A G 17: 80,560,415 F35L probably damaging Het
Crnn A G 3: 93,149,368 H487R probably damaging Het
Dcaf4 C T 12: 83,530,031 P95L probably damaging Het
Deaf1 A T 7: 141,313,333 V382E possibly damaging Het
Dph7 T G 2: 24,966,597 V187G possibly damaging Het
Fat3 G T 9: 15,988,412 C3108* probably null Het
Ggt5 T C 10: 75,610,237 probably benign Het
Kif26a G A 12: 112,172,664 V396M probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mterf4 C T 1: 93,302,879 V182I possibly damaging Het
Nsg1 T C 5: 38,158,911 D32G probably damaging Het
Olfr175-ps1 A G 16: 58,824,046 I221T probably damaging Het
Olfr788 T C 10: 129,473,195 S168P probably damaging Het
Olfr808 T A 10: 129,767,793 V99E probably benign Het
P3h2 T C 16: 25,992,825 Y216C probably damaging Het
Prkdc T A 16: 15,816,758 V3589D probably benign Het
Qars A G 9: 108,514,329 T26A probably benign Het
Rhd T C 4: 134,884,095 S189P probably benign Het
Rhobtb1 A T 10: 69,288,987 H555L probably damaging Het
Rogdi G A 16: 5,009,224 S306F probably benign Het
Slc25a25 C T 2: 32,417,843 V259I probably benign Het
Srrm1 A T 4: 135,321,414 probably benign Het
Stkld1 T C 2: 26,950,142 V408A probably benign Het
Thbs1 T C 2: 118,123,099 V999A possibly damaging Het
Tmprss11d T A 5: 86,303,612 *280L probably null Het
Trim54 A G 5: 31,131,980 probably benign Het
Tspear G A 10: 77,836,573 R202H probably damaging Het
Vwa8 G A 14: 79,182,977 G1706D probably damaging Het
Other mutations in Pdzd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Pdzd9 APN 7 120660271 missense possibly damaging 0.92
IGL01295:Pdzd9 APN 7 120668395 missense probably damaging 1.00
IGL02252:Pdzd9 APN 7 120663015 missense probably benign 0.00
R0826:Pdzd9 UTSW 7 120668401 missense probably damaging 0.99
R4130:Pdzd9 UTSW 7 120662869 missense possibly damaging 0.81
R4131:Pdzd9 UTSW 7 120662869 missense possibly damaging 0.81
R4820:Pdzd9 UTSW 7 120668396 missense probably damaging 1.00
R4915:Pdzd9 UTSW 7 120670168 missense possibly damaging 0.82
R5883:Pdzd9 UTSW 7 120668553 missense possibly damaging 0.60
R6283:Pdzd9 UTSW 7 120660226 missense possibly damaging 0.66
R6896:Pdzd9 UTSW 7 120662872 makesense probably null
R7017:Pdzd9 UTSW 7 120663002 missense probably benign 0.23
Posted On2015-04-16