Incidental Mutation 'IGL02484:Pus7l'
ID295353
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 #IGL02484
Quality Score
Status
Chromosome15
Chromosomal Location94522688-94543547 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94529488 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 471 (V471A)
Ref Sequence ENSEMBL: ENSMUSP00000044075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049151]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049151
AA Change: V471A

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: V471A

DomainStartEndE-ValueType
Pfam:TruD 280 697 1e-70 PFAM
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,563,352 noncoding transcript Het
Araf A G X: 20,853,909 probably benign Het
Arrb2 T A 11: 70,439,474 V308E probably damaging Het
Asap3 A G 4: 136,229,457 probably benign Het
Astn2 G A 4: 65,992,279 probably benign Het
Cactin T A 10: 81,322,974 I258N probably benign Het
Catsperg1 T C 7: 29,210,920 probably benign Het
Ccna1 C T 3: 55,048,494 D146N probably benign Het
Chrna3 T C 9: 55,015,537 Y329C probably damaging Het
Ctps2 G A X: 162,910,009 G56D probably damaging Het
Cyp4b1 T C 4: 115,647,557 D44G probably benign Het
D3Ertd751e A G 3: 41,753,720 probably null Het
Daxx T C 17: 33,912,242 V381A probably damaging Het
Dhx37 T A 5: 125,419,337 I714F possibly damaging Het
Dnah7b T C 1: 46,195,318 V1470A probably damaging Het
Efl1 T C 7: 82,683,039 I297T probably damaging Het
Fam26f T C 10: 34,126,404 T228A probably benign Het
Fnd3c2 A T X: 106,245,486 H442Q probably damaging Het
Glp2r A C 11: 67,740,166 V126G possibly damaging Het
Gm5699 G T 1: 30,998,762 noncoding transcript Het
Gpt2 A G 8: 85,516,233 D298G probably damaging Het
Gse1 G T 8: 120,575,262 probably benign Het
Hand1 T C 11: 57,831,594 T65A probably benign Het
Ints8 G A 4: 11,208,834 Q955* probably null Het
Lrguk C T 6: 34,092,791 P534S probably damaging Het
Lrp6 A G 6: 134,541,923 F60L probably benign Het
Mamld1 T C X: 71,118,652 I423T possibly damaging Het
Mrpl22 G A 11: 58,173,062 S36N possibly damaging Het
Mug2 A G 6: 122,072,753 E915G probably damaging Het
Olfr1442 T C 19: 12,674,859 F218S possibly damaging Het
Olfr493 C T 7: 108,346,606 R125Q probably damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pde4c T A 8: 70,748,052 probably benign Het
Pdxdc1 T C 16: 13,876,081 E159G possibly damaging Het
Poln T C 5: 34,129,377 E149G probably damaging Het
Pou5f2 T G 13: 78,025,905 L322R probably damaging Het
Ppm1k A T 6: 57,525,012 S55R possibly damaging Het
Ptges2 T A 2: 32,397,707 I149N probably damaging Het
Raet1e A T 10: 22,180,767 M81L probably benign Het
Sipa1l3 A G 7: 29,399,531 S438P probably damaging Het
Skint5 T A 4: 113,942,553 K126* probably null Het
Stfa2 T C 16: 36,405,207 T37A probably damaging Het
Ttll12 A G 15: 83,581,696 I433T possibly damaging Het
Vmn2r32 C T 7: 7,464,117 G804D probably damaging Het
Zc3h14 A G 12: 98,774,301 T84A probably benign 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
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 On2015-04-16