Incidental Mutation 'IGL02187:Pan3'
ID283681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pan3
Ensembl Gene ENSMUSG00000029647
Gene NamePAN3 poly(A) specific ribonuclease subunit
Synonyms2700050F09Rik, A430027N15Rik
Accession Numbers

Genbank: NM_028291.4; Ensembl: ENSMUST00000031651

Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #IGL02187
Quality Score
Status
Chromosome5
Chromosomal Location147430161-147548502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 147526588 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 440 (I440T)
Ref Sequence ENSEMBL: ENSMUSP00000031651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031651] [ENSMUST00000175807] [ENSMUST00000176600]
Predicted Effect probably benign
Transcript: ENSMUST00000031651
AA Change: I440T

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647
AA Change: I440T

DomainStartEndE-ValueType
low complexity region 3 50 N/A INTRINSIC
ZnF_C3H1 51 76 2.24e-3 SMART
low complexity region 77 87 N/A INTRINSIC
low complexity region 93 120 N/A INTRINSIC
low complexity region 188 194 N/A INTRINSIC
low complexity region 318 335 N/A INTRINSIC
PDB:4BWP|B 391 829 1e-161 PDB
Blast:S_TKc 439 607 2e-8 BLAST
SCOP:d1pme__ 453 602 4e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175807
AA Change: I100T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135729
Gene: ENSMUSG00000029647
AA Change: I100T

DomainStartEndE-ValueType
PDB:4BWP|B 51 450 1e-134 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000176466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176505
Predicted Effect probably benign
Transcript: ENSMUST00000176596
Predicted Effect probably benign
Transcript: ENSMUST00000176600
AA Change: I494T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647
AA Change: I494T

DomainStartEndE-ValueType
low complexity region 3 50 N/A INTRINSIC
ZnF_C3H1 51 76 2.24e-3 SMART
low complexity region 77 87 N/A INTRINSIC
low complexity region 93 120 N/A INTRINSIC
low complexity region 188 194 N/A INTRINSIC
low complexity region 372 389 N/A INTRINSIC
PDB:4BWP|B 445 883 1e-161 PDB
Blast:S_TKc 493 661 2e-8 BLAST
SCOP:d1pme__ 507 656 4e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000176753
AA Change: I294T
SMART Domains Protein: ENSMUSP00000134989
Gene: ENSMUSG00000029647
AA Change: I294T

DomainStartEndE-ValueType
low complexity region 43 49 N/A INTRINSIC
low complexity region 173 190 N/A INTRINSIC
PDB:4BWP|B 246 684 1e-164 PDB
Blast:S_TKc 294 462 1e-8 BLAST
SCOP:d1pme__ 308 457 8e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177328
Predicted Effect probably benign
Transcript: ENSMUST00000177465
SMART Domains Protein: ENSMUSP00000134810
Gene: ENSMUSG00000029647

DomainStartEndE-ValueType
low complexity region 43 49 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000200885
AA Change: I135T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202732
Coding Region Coverage
Validation Efficiency
Allele List at MGI

 All alleles(15) : Gene trapped(15)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 113,713,194 E922D possibly damaging Het
Asxl3 T A 18: 22,524,978 M2015K probably damaging Het
C8a C A 4: 104,862,736 R15L probably damaging Het
Catsperg2 A G 7: 29,721,366 V47A probably benign Het
Ccdc84 C T 9: 44,410,787 probably benign Het
Cdhr2 C T 13: 54,733,710 T1081I possibly damaging Het
Cep85 T A 4: 134,131,305 M752L possibly damaging Het
Cxcr3 T A X: 101,732,877 S60C probably damaging Het
Cyp24a1 T A 2: 170,494,093 N208I probably damaging Het
Cyp2c38 A G 19: 39,436,205 I223T probably benign Het
Dennd6a A G 14: 26,606,926 I35V probably benign Het
Emb T G 13: 117,268,971 probably benign Het
Fbxo3 T C 2: 104,027,950 Y30H probably damaging Het
Fnbp1l G A 3: 122,568,800 R120* probably null Het
Galnt2 T C 8: 124,305,506 probably benign Het
Gckr T C 5: 31,307,424 probably benign Het
Gpr101 A G X: 57,501,481 F103S probably damaging Het
Gprasp1 T A X: 135,799,163 V35E probably damaging Het
Ift80 C A 3: 68,985,456 W133L probably damaging Het
Impdh1 C A 6: 29,207,087 probably benign Het
Ino80 T C 2: 119,445,457 probably benign Het
Kansl1 A T 11: 104,378,831 probably null Het
Klhl20 C T 1: 161,109,710 V32I probably benign Het
Lrfn3 A G 7: 30,355,964 S519P probably damaging Het
Mrpl51 A G 6: 125,193,331 N100S probably benign Het
Mybpc3 T C 2: 91,135,452 I1203T probably benign Het
Nbr1 A G 11: 101,569,359 I394V possibly damaging Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Olfr854 T A 9: 19,567,097 T96S probably benign Het
Patz1 T C 11: 3,291,134 L174P probably damaging Het
Paxx A G 2: 25,460,656 L62P probably damaging Het
Plekhh1 T C 12: 79,072,818 S972P probably damaging Het
Ppp1r13b G T 12: 111,835,038 T404K probably damaging Het
Prkaa2 T C 4: 105,047,166 N238S probably benign Het
Prpf6 T C 2: 181,616,016 Y94H probably damaging Het
Rtn4 T C 11: 29,708,291 I815T possibly damaging Het
Slc44a5 A G 3: 154,262,917 T582A probably benign Het
Slitrk3 A G 3: 73,050,272 L389S probably damaging Het
Srp54b T A 12: 55,252,775 M297K probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zmym4 T A 4: 126,870,273 I1325L probably damaging Het
Zswim2 C A 2: 83,923,638 R226L probably damaging Het
Other mutations in Pan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Pan3 APN 5 147529973 missense probably benign 0.05
IGL01612:Pan3 APN 5 147453242 splice site probably benign
IGL02324:Pan3 APN 5 147530123 splice site probably null
IGL02328:Pan3 APN 5 147530123 splice site probably null
IGL02507:Pan3 APN 5 147526596 missense probably damaging 0.98
IGL03144:Pan3 APN 5 147450781 splice site probably benign
3-1:Pan3 UTSW 5 147526575 missense probably benign 0.14
R2145:Pan3 UTSW 5 147530098 missense possibly damaging 0.87
R2174:Pan3 UTSW 5 147450653 missense possibly damaging 0.63
R2504:Pan3 UTSW 5 147527036 missense possibly damaging 0.87
R3106:Pan3 UTSW 5 147539379 splice site probably benign
R3723:Pan3 UTSW 5 147503208 intron probably benign
R3944:Pan3 UTSW 5 147450730 missense probably damaging 1.00
R4589:Pan3 UTSW 5 147543173 missense probably damaging 0.98
R4647:Pan3 UTSW 5 147527203 missense probably damaging 1.00
R4811:Pan3 UTSW 5 147530058 missense probably damaging 1.00
R5001:Pan3 UTSW 5 147526682 critical splice donor site probably null
R5126:Pan3 UTSW 5 147527198 missense probably benign 0.00
R5215:Pan3 UTSW 5 147455105 splice site probably null
R5317:Pan3 UTSW 5 147543210 critical splice donor site probably null
R5496:Pan3 UTSW 5 147527128 critical splice acceptor site probably null
R5687:Pan3 UTSW 5 147455172 missense probably damaging 1.00
R6147:Pan3 UTSW 5 147548283 unclassified probably benign
R6539:Pan3 UTSW 5 147450653 missense possibly damaging 0.63
R7008:Pan3 UTSW 5 147545693 missense probably damaging 0.99
R7047:Pan3 UTSW 5 147546365 missense probably damaging 0.97
R7226:Pan3 UTSW 5 147526992 missense probably damaging 1.00
R7453:Pan3 UTSW 5 147526681 critical splice donor site probably null
X0060:Pan3 UTSW 5 147543133 missense probably damaging 1.00
Posted On2015-04-16