Incidental Mutation 'IGL01713:Pus7l'
ID104853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pus7l
Ensembl Gene ENSMUSG00000033356
Gene Namepseudouridylate synthase 7-like
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01713
Quality Score
Status
Chromosome15
Chromosomal Location94522688-94543547 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94531612 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 442 (T442A)
Ref Sequence ENSEMBL: ENSMUSP00000044075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049151]
Predicted Effect probably benign
Transcript: ENSMUST00000049151
AA Change: T442A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: T442A

DomainStartEndE-ValueType
Pfam:TruD 280 697 1e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147832
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 131,139,043 I148T possibly damaging Het
Aipl1 A G 11: 72,036,623 C89R probably damaging Het
Apaf1 G A 10: 91,061,832 probably benign Het
Atp7b A G 8: 22,028,573 V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 probably null Het
Crebbp T C 16: 4,128,648 I418V possibly damaging Het
Cyp26b1 G A 6: 84,574,301 P427L probably benign Het
Dnal4 A G 15: 79,762,405 Y92H probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Epha3 G A 16: 63,552,562 T926I probably benign Het
Fgg T C 3: 83,008,416 S55P probably benign Het
Gosr1 A T 11: 76,754,756 M66K probably benign Het
Igkv12-89 G T 6: 68,835,312 probably benign Het
Map3k12 T C 15: 102,502,321 E451G probably damaging Het
Phkg1 T C 5: 129,866,873 E179G probably benign Het
Pnpla1 A T 17: 28,881,605 D482V possibly damaging Het
Pramel1 T C 4: 143,397,082 V109A probably benign Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Sall3 A G 18: 80,969,847 S1125P probably damaging Het
Scyl2 A C 10: 89,654,225 I150S probably damaging Het
Sf1 T A 19: 6,374,289 probably null Het
Slco1a6 A G 6: 142,086,567 S611P possibly damaging Het
Vmn2r103 G T 17: 19,794,068 C374F probably damaging Het
Xntrpc T C 7: 102,083,852 probably benign Het
Other mutations in Pus7l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Pus7l APN 15 94540178 missense probably damaging 1.00
IGL02484:Pus7l APN 15 94529488 missense possibly damaging 0.70
IGL02731:Pus7l APN 15 94523464 missense probably benign 0.03
IGL03252:Pus7l APN 15 94525810 missense probably benign 0.00
IGL03392:Pus7l APN 15 94536568 missense probably damaging 1.00
R0638:Pus7l UTSW 15 94523417 missense probably benign 0.20
R0848:Pus7l UTSW 15 94540512 missense probably benign 0.16
R1646:Pus7l UTSW 15 94533636 missense probably benign 0.33
R1785:Pus7l UTSW 15 94540637 missense probably benign 0.04
R2046:Pus7l UTSW 15 94540785 missense probably benign 0.01
R2206:Pus7l UTSW 15 94523590 missense probably damaging 1.00
R2210:Pus7l UTSW 15 94540292 missense possibly damaging 0.95
R3618:Pus7l UTSW 15 94527907 missense probably damaging 0.97
R4485:Pus7l UTSW 15 94523490 missense probably benign 0.00
R4487:Pus7l UTSW 15 94531617 missense possibly damaging 0.46
R4686:Pus7l UTSW 15 94540211 missense probably damaging 1.00
R4739:Pus7l UTSW 15 94540710 missense probably benign 0.02
R4975:Pus7l UTSW 15 94529488 missense possibly damaging 0.70
R5431:Pus7l UTSW 15 94529486 missense probably damaging 1.00
R5567:Pus7l UTSW 15 94527865 missense probably benign 0.00
R5570:Pus7l UTSW 15 94527865 missense probably benign 0.00
R5896:Pus7l UTSW 15 94529451 splice site probably null
R6408:Pus7l UTSW 15 94531575 missense probably benign 0.06
R6681:Pus7l UTSW 15 94527865 missense probably benign 0.00
R7344:Pus7l UTSW 15 94540617 missense probably benign 0.01
R7811:Pus7l UTSW 15 94540826 missense probably damaging 1.00
X0065:Pus7l UTSW 15 94540773 missense possibly damaging 0.87
X0066:Pus7l UTSW 15 94529493 missense possibly damaging 0.61
Posted On2014-01-21