Incidental Mutation 'IGL01483:Pan3'
ID88703
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: 0.497) question?
Stock #IGL01483
Quality Score
Status
Chromosome5
Chromosomal Location147430161-147548502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 147529973 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 550 (L550Q)
Ref Sequence ENSEMBL: ENSMUSP00000031651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031651] [ENSMUST00000175807] [ENSMUST00000176600]
Predicted Effect probably benign
Transcript: ENSMUST00000031651
AA Change: L550Q

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647
AA Change: L550Q

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: L171Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135729
Gene: ENSMUSG00000029647
AA Change: L171Q

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: L604Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647
AA Change: L604Q

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: L404Q
SMART Domains Protein: ENSMUSP00000134989
Gene: ENSMUSG00000029647
AA Change: L404Q

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 probably benign
Transcript: ENSMUST00000200885
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Pan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Pan3 APN 5 147453242 splice site probably benign
IGL02187:Pan3 APN 5 147526588 missense probably benign 0.21
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
R7424:Pan3 UTSW 5 147536272 splice site probably null
R7453:Pan3 UTSW 5 147526681 critical splice donor site probably null
R8062:Pan3 UTSW 5 147527150 missense probably benign 0.18
R8786:Pan3 UTSW 5 147488141 missense possibly damaging 0.94
X0060:Pan3 UTSW 5 147543133 missense probably damaging 1.00
Posted On2013-11-18