Incidental Mutation 'IGL03392:Pus7l'
ID421097
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 #IGL03392
Quality Score
Status
Chromosome15
Chromosomal Location94522688-94543547 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94536568 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 339 (D339G)
Ref Sequence ENSEMBL: ENSMUSP00000044075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049151] [ENSMUST00000134061]
Predicted Effect probably damaging
Transcript: ENSMUST00000049151
AA Change: D339G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: D339G

DomainStartEndE-ValueType
Pfam:TruD 280 697 1e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147832
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,562,011 D692E probably damaging Het
Adgrb3 T A 1: 25,504,448 R366S probably damaging Het
Afg3l2 C A 18: 67,414,069 probably benign Het
Cd5 T C 19: 10,726,289 probably benign Het
Cnbd1 A G 4: 18,862,111 S360P probably damaging Het
Col13a1 A T 10: 61,885,711 L305I possibly damaging Het
Commd7 A T 2: 153,622,764 probably benign Het
Cpsf6 A T 10: 117,367,979 Y23N probably damaging Het
Cry1 A G 10: 85,157,129 V75A possibly damaging Het
Cyp2c39 A G 19: 39,513,323 N107D probably benign Het
Dcaf11 T A 14: 55,561,421 V45E probably damaging Het
Dnm2 A G 9: 21,474,611 E310G probably damaging Het
Fat3 T A 9: 16,003,862 I1597L probably benign Het
Fcamr A G 1: 130,800,948 probably benign Het
Fer A G 17: 63,991,642 I529V probably damaging Het
Fhdc1 T C 3: 84,444,519 K1133R possibly damaging Het
Foxd3 A G 4: 99,657,195 K191E probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gbp8 A G 5: 105,016,544 probably null Het
Glb1 T G 9: 114,430,321 N106K probably damaging Het
Hpx A G 7: 105,592,402 I295T probably damaging Het
Ipo5 T A 14: 120,942,687 D844E probably damaging Het
Krt17 T C 11: 100,259,735 I159V possibly damaging Het
Lgi4 G A 7: 31,063,180 probably null Het
Lrrc49 T C 9: 60,666,280 probably benign Het
Ltn1 T C 16: 87,425,611 K178R probably damaging Het
Myh8 T A 11: 67,294,418 W832R probably damaging Het
Nbn A G 4: 15,962,362 N30S probably damaging Het
Olfr1245 A T 2: 89,575,249 V159D probably damaging Het
Olfr1312 T A 2: 112,042,976 N19Y probably benign Het
Olfr137 A G 17: 38,304,895 S189P probably benign Het
Olfr632 T C 7: 103,938,025 V215A probably benign Het
Pcdh15 A T 10: 74,624,272 I1314F probably damaging Het
Phf14 G A 6: 11,962,659 S435N probably damaging Het
Prss45 T A 9: 110,840,550 Y231* probably null Het
Sbk2 A G 7: 4,957,409 F254S probably damaging Het
Serpina1b T G 12: 103,732,070 K173N possibly damaging Het
Slc13a5 G A 11: 72,245,178 T469I probably damaging Het
Spon1 A G 7: 114,034,287 E655G probably damaging Het
Sv2b T C 7: 75,156,760 probably null Het
Treh A G 9: 44,685,931 D514G probably damaging Het
Umodl1 T A 17: 30,996,355 L1051Q probably damaging Het
Usp5 A G 6: 124,826,387 F4S probably damaging Het
Vmn1r16 A G 6: 57,322,894 S248P 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
IGL03252:Pus7l APN 15 94525810 missense probably benign 0.00
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