Incidental Mutation 'IGL01293:Pdzd8'
ID 72969
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzd8
Ensembl Gene ENSMUSG00000074746
Gene Name PDZ domain containing 8
Synonyms Pdzk8, A630041P07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01293
Quality Score
Status
Chromosome 19
Chromosomal Location 59285610-59334212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59288218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1061 (R1061W)
Ref Sequence ENSEMBL: ENSMUSP00000096880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026084] [ENSMUST00000099274]
AlphaFold B9EJ80
Predicted Effect probably benign
Transcript: ENSMUST00000026084
SMART Domains Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094

DomainStartEndE-ValueType
Pfam:MFS_1 22 428 6.8e-40 PFAM
Pfam:Sugar_tr 26 284 5.9e-10 PFAM
Pfam:MFS_2 127 457 4.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099274
AA Change: R1061W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: R1061W

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
PDZ 374 448 2.02e-10 SMART
low complexity region 582 596 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
C1 834 884 8.31e-8 SMART
coiled coil region 1021 1057 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Pdzd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Pdzd8 APN 19 59,289,961 (GRCm39) missense probably benign
IGL01865:Pdzd8 APN 19 59,288,077 (GRCm39) missense possibly damaging 0.92
IGL02044:Pdzd8 APN 19 59,303,724 (GRCm39) missense possibly damaging 0.85
IGL02119:Pdzd8 APN 19 59,288,922 (GRCm39) missense possibly damaging 0.95
IGL02186:Pdzd8 APN 19 59,289,060 (GRCm39) missense probably damaging 1.00
IGL02389:Pdzd8 APN 19 59,289,825 (GRCm39) missense probably benign 0.00
IGL02479:Pdzd8 APN 19 59,288,215 (GRCm39) nonsense probably null
IGL02713:Pdzd8 APN 19 59,333,890 (GRCm39) missense probably damaging 0.98
IGL02958:Pdzd8 APN 19 59,288,804 (GRCm39) nonsense probably null
IGL02966:Pdzd8 APN 19 59,289,291 (GRCm39) missense probably damaging 1.00
IGL03166:Pdzd8 APN 19 59,288,940 (GRCm39) missense probably damaging 1.00
citadel UTSW 19 59,287,957 (GRCm39) makesense probably null
Eleventh_hour UTSW 19 59,293,662 (GRCm39) missense probably damaging 1.00
keep UTSW 19 59,289,783 (GRCm39) nonsense probably null
Stronghold UTSW 19 59,333,784 (GRCm39) nonsense probably null
R0018:Pdzd8 UTSW 19 59,289,105 (GRCm39) missense probably damaging 1.00
R0038:Pdzd8 UTSW 19 59,288,028 (GRCm39) missense possibly damaging 0.54
R0196:Pdzd8 UTSW 19 59,289,563 (GRCm39) missense probably benign 0.00
R0233:Pdzd8 UTSW 19 59,288,811 (GRCm39) missense probably damaging 0.99
R0233:Pdzd8 UTSW 19 59,288,811 (GRCm39) missense probably damaging 0.99
R0418:Pdzd8 UTSW 19 59,289,361 (GRCm39) missense probably damaging 1.00
R0736:Pdzd8 UTSW 19 59,333,365 (GRCm39) missense probably damaging 0.99
R1456:Pdzd8 UTSW 19 59,288,904 (GRCm39) missense probably benign 0.01
R1709:Pdzd8 UTSW 19 59,289,771 (GRCm39) missense probably benign
R1965:Pdzd8 UTSW 19 59,288,554 (GRCm39) missense probably benign 0.37
R2155:Pdzd8 UTSW 19 59,288,853 (GRCm39) missense probably damaging 1.00
R3077:Pdzd8 UTSW 19 59,293,588 (GRCm39) critical splice donor site probably null
R3411:Pdzd8 UTSW 19 59,333,845 (GRCm39) missense probably damaging 1.00
R4345:Pdzd8 UTSW 19 59,288,560 (GRCm39) missense probably benign 0.00
R4354:Pdzd8 UTSW 19 59,333,913 (GRCm39) missense probably benign
R4504:Pdzd8 UTSW 19 59,333,880 (GRCm39) missense probably damaging 1.00
R4642:Pdzd8 UTSW 19 59,293,662 (GRCm39) missense probably damaging 1.00
R4705:Pdzd8 UTSW 19 59,333,743 (GRCm39) missense possibly damaging 0.80
R4773:Pdzd8 UTSW 19 59,289,292 (GRCm39) missense probably damaging 1.00
R4876:Pdzd8 UTSW 19 59,289,236 (GRCm39) nonsense probably null
R5176:Pdzd8 UTSW 19 59,333,389 (GRCm39) missense probably damaging 1.00
R5267:Pdzd8 UTSW 19 59,289,458 (GRCm39) missense probably damaging 1.00
R5707:Pdzd8 UTSW 19 59,288,057 (GRCm39) missense probably benign 0.00
R5766:Pdzd8 UTSW 19 59,288,972 (GRCm39) missense possibly damaging 0.65
R5903:Pdzd8 UTSW 19 59,333,718 (GRCm39) missense possibly damaging 0.58
R6036:Pdzd8 UTSW 19 59,293,641 (GRCm39) missense probably damaging 1.00
R6036:Pdzd8 UTSW 19 59,293,641 (GRCm39) missense probably damaging 1.00
R6238:Pdzd8 UTSW 19 59,288,994 (GRCm39) missense probably benign 0.05
R6360:Pdzd8 UTSW 19 59,289,415 (GRCm39) missense probably benign 0.10
R6509:Pdzd8 UTSW 19 59,333,298 (GRCm39) missense probably benign 0.01
R6674:Pdzd8 UTSW 19 59,289,801 (GRCm39) missense probably damaging 1.00
R6808:Pdzd8 UTSW 19 59,287,957 (GRCm39) makesense probably null
R6902:Pdzd8 UTSW 19 59,289,829 (GRCm39) missense possibly damaging 0.91
R7017:Pdzd8 UTSW 19 59,333,784 (GRCm39) nonsense probably null
R7088:Pdzd8 UTSW 19 59,333,389 (GRCm39) missense probably damaging 1.00
R7116:Pdzd8 UTSW 19 59,288,125 (GRCm39) missense probably damaging 1.00
R7158:Pdzd8 UTSW 19 59,288,589 (GRCm39) missense probably damaging 1.00
R7237:Pdzd8 UTSW 19 59,333,571 (GRCm39) missense probably damaging 1.00
R7251:Pdzd8 UTSW 19 59,289,077 (GRCm39) missense possibly damaging 0.96
R7314:Pdzd8 UTSW 19 59,289,783 (GRCm39) nonsense probably null
R7699:Pdzd8 UTSW 19 59,333,373 (GRCm39) missense probably damaging 1.00
R7751:Pdzd8 UTSW 19 59,333,208 (GRCm39) missense probably damaging 0.98
R7759:Pdzd8 UTSW 19 59,288,358 (GRCm39) missense probably damaging 1.00
R7784:Pdzd8 UTSW 19 59,316,295 (GRCm39) missense probably damaging 1.00
R7917:Pdzd8 UTSW 19 59,333,518 (GRCm39) missense probably damaging 0.96
R9364:Pdzd8 UTSW 19 59,333,574 (GRCm39) missense probably damaging 1.00
R9368:Pdzd8 UTSW 19 59,289,219 (GRCm39) nonsense probably null
R9406:Pdzd8 UTSW 19 59,333,245 (GRCm39) missense
R9548:Pdzd8 UTSW 19 59,289,826 (GRCm39) missense probably benign 0.13
R9554:Pdzd8 UTSW 19 59,333,574 (GRCm39) missense probably damaging 1.00
R9688:Pdzd8 UTSW 19 59,333,683 (GRCm39) missense probably benign 0.05
R9750:Pdzd8 UTSW 19 59,289,684 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07