Incidental Mutation 'IGL02103:Pdzrn4'
ID279855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzrn4
Ensembl Gene ENSMUSG00000036218
Gene NamePDZ domain containing RING finger 4
Synonyms1110017D07Rik, LNX4, SAMCAP3L
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.410) question?
Stock #IGL02103
Quality Score
Status
Chromosome15
Chromosomal Location92396881-92771819 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92769887 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 640 (V640E)
Ref Sequence ENSEMBL: ENSMUSP00000133159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035399] [ENSMUST00000169942]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035399
AA Change: V401E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: V401E

DomainStartEndE-ValueType
Blast:PDZ 1 56 4e-24 BLAST
SCOP:d1qaua_ 20 61 1e-3 SMART
PDB:1UHP|A 21 64 9e-12 PDB
PDZ 154 229 3.01e-18 SMART
low complexity region 240 259 N/A INTRINSIC
low complexity region 267 278 N/A INTRINSIC
coiled coil region 394 430 N/A INTRINSIC
low complexity region 563 577 N/A INTRINSIC
low complexity region 696 709 N/A INTRINSIC
low complexity region 732 741 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169942
AA Change: V640E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: V640E

DomainStartEndE-ValueType
RING 22 56 1.38e-1 SMART
low complexity region 101 124 N/A INTRINSIC
PDZ 213 295 3.82e-20 SMART
PDZ 393 468 3.01e-18 SMART
low complexity region 479 498 N/A INTRINSIC
low complexity region 506 517 N/A INTRINSIC
coiled coil region 633 669 N/A INTRINSIC
low complexity region 802 816 N/A INTRINSIC
low complexity region 935 948 N/A INTRINSIC
low complexity region 971 980 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,612,364 T206M probably benign Het
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Gpr139 A G 7: 119,145,132 F77L possibly damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Med18 A T 4: 132,459,666 V174D probably damaging Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Piwil4 T C 9: 14,725,986 probably null Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Plekhg2 C A 7: 28,360,076 R1276L probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rae1 G A 2: 173,003,513 E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Stom A T 2: 35,320,389 V201E probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V probably damaging Het
Other mutations in Pdzrn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01932:Pdzrn4 APN 15 92746278 missense probably damaging 1.00
IGL01991:Pdzrn4 APN 15 92401926 splice site probably null
IGL02243:Pdzrn4 APN 15 92770696 missense probably benign 0.30
IGL02269:Pdzrn4 APN 15 92769850 missense probably damaging 1.00
IGL03005:Pdzrn4 APN 15 92770391 missense probably damaging 1.00
PIT4362001:Pdzrn4 UTSW 15 92769881 missense possibly damaging 0.46
R0243:Pdzrn4 UTSW 15 92770319 missense possibly damaging 0.46
R0367:Pdzrn4 UTSW 15 92757657 missense possibly damaging 0.53
R0972:Pdzrn4 UTSW 15 92757711 missense probably benign 0.00
R1168:Pdzrn4 UTSW 15 92770271 missense probably benign 0.16
R1411:Pdzrn4 UTSW 15 92771013 makesense probably null
R1466:Pdzrn4 UTSW 15 92770537 missense probably benign 0.00
R1466:Pdzrn4 UTSW 15 92770537 missense probably benign 0.00
R1489:Pdzrn4 UTSW 15 92677712 missense probably benign
R1503:Pdzrn4 UTSW 15 92399804 missense probably damaging 0.99
R1561:Pdzrn4 UTSW 15 92677637 missense possibly damaging 0.84
R1584:Pdzrn4 UTSW 15 92770537 missense probably benign 0.00
R1733:Pdzrn4 UTSW 15 92401974 missense probably benign 0.06
R1965:Pdzrn4 UTSW 15 92746309 splice site probably null
R2061:Pdzrn4 UTSW 15 92770160 missense probably damaging 0.99
R3010:Pdzrn4 UTSW 15 92769811 missense probably benign 0.32
R4016:Pdzrn4 UTSW 15 92399749 missense probably benign
R4032:Pdzrn4 UTSW 15 92769533 missense probably damaging 1.00
R4110:Pdzrn4 UTSW 15 92770864 missense probably benign 0.26
R4180:Pdzrn4 UTSW 15 92402017 missense possibly damaging 0.93
R4539:Pdzrn4 UTSW 15 92770589 missense probably damaging 1.00
R4617:Pdzrn4 UTSW 15 92769842 missense probably damaging 1.00
R4734:Pdzrn4 UTSW 15 92770252 nonsense probably null
R4900:Pdzrn4 UTSW 15 92770757 missense probably damaging 1.00
R5422:Pdzrn4 UTSW 15 92677621 missense probably benign 0.01
R5444:Pdzrn4 UTSW 15 92770925 missense probably damaging 1.00
R5772:Pdzrn4 UTSW 15 92757681 missense probably damaging 1.00
R5775:Pdzrn4 UTSW 15 92757681 missense probably damaging 1.00
R5935:Pdzrn4 UTSW 15 92397374 missense probably benign 0.01
R6192:Pdzrn4 UTSW 15 92757681 missense probably damaging 1.00
R6210:Pdzrn4 UTSW 15 92757681 missense probably damaging 1.00
R6258:Pdzrn4 UTSW 15 92757681 missense probably damaging 1.00
R6259:Pdzrn4 UTSW 15 92757681 missense probably damaging 1.00
R6391:Pdzrn4 UTSW 15 92680537 missense probably damaging 0.99
R6613:Pdzrn4 UTSW 15 92677574 missense probably damaging 0.99
R7046:Pdzrn4 UTSW 15 92770422 nonsense probably null
R7096:Pdzrn4 UTSW 15 92397503 missense probably benign 0.00
R7451:Pdzrn4 UTSW 15 92770067 missense possibly damaging 0.68
R8075:Pdzrn4 UTSW 15 92677724 missense probably damaging 0.99
R8125:Pdzrn4 UTSW 15 92743595 missense probably damaging 1.00
X0018:Pdzrn4 UTSW 15 92397223 missense probably benign 0.01
X0020:Pdzrn4 UTSW 15 92397223 missense probably benign 0.01
X0021:Pdzrn4 UTSW 15 92677709 missense probably damaging 1.00
X0026:Pdzrn4 UTSW 15 92397223 missense probably benign 0.01
X0027:Pdzrn4 UTSW 15 92397223 missense probably benign 0.01
X0027:Pdzrn4 UTSW 15 92680512 missense possibly damaging 0.92
X0065:Pdzrn4 UTSW 15 92397223 missense probably benign 0.01
Z1176:Pdzrn4 UTSW 15 92396957 missense probably benign 0.03
Posted On2015-04-16