Incidental Mutation 'IGL03252:Pus7l'
ID414555
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 #IGL03252
Quality Score
Status
Chromosome15
Chromosomal Location94522688-94543547 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94525810 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 586 (H586L)
Ref Sequence ENSEMBL: ENSMUSP00000044075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049151]
Predicted Effect probably benign
Transcript: ENSMUST00000049151
AA Change: H586L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: H586L

DomainStartEndE-ValueType
Pfam:TruD 280 697 1e-70 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt2 A G 11: 95,873,931 S237P probably damaging Het
Btla A G 16: 45,239,146 H71R possibly damaging Het
Calml3 T A 13: 3,803,759 K149* probably null Het
Cyp2c29 T C 19: 39,287,175 W20R probably damaging Het
Dnah8 G A 17: 30,673,920 probably null Het
Elf3 T C 1: 135,254,953 T345A probably damaging Het
Erc2 T C 14: 28,475,649 probably benign Het
Gm10375 C T 14: 43,604,832 C147Y probably damaging Het
Gsdma2 A G 11: 98,649,090 R13G probably damaging Het
Hist1h3a G A 13: 23,761,960 probably null Het
Ighg3 G T 12: 113,360,564 P101H unknown Het
L3mbtl3 A G 10: 26,331,812 probably benign Het
Micall2 T C 5: 139,716,726 N254S probably benign Het
Myh4 A T 11: 67,252,216 D990V probably damaging Het
Ncapd3 T A 9: 27,051,449 F394I probably damaging Het
Nek1 C T 8: 61,072,330 Q601* probably null Het
Olfr1281 T A 2: 111,328,780 Y120* probably null Het
Olfr668 C T 7: 104,925,387 V126I probably benign Het
Plcb1 C T 2: 135,370,428 P980S probably benign Het
Puf60 T C 15: 76,071,850 D224G probably damaging Het
Rims2 T C 15: 39,452,352 S585P probably benign Het
Rxfp1 T A 3: 79,667,683 D207V probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sptlc2 A G 12: 87,355,657 I165T probably benign Het
Sult2a3 A G 7: 14,067,634 V260A probably damaging Het
Tas2r125 A G 6: 132,910,590 probably null Het
Tbx18 T A 9: 87,705,580 I495F probably damaging Het
Top2b A T 14: 16,393,163 N274I possibly damaging Het
Vmn2r53 T G 7: 12,606,391 T52P probably damaging Het
Other mutations in Pus7l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Pus7l APN 15 94531612 missense probably benign 0.07
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
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 On2016-08-02