Incidental Mutation 'IGL03392:Pus7l'
ID 421097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pus7l
Ensembl Gene ENSMUSG00000033356
Gene Name pseudouridylate synthase 7-like
Synonyms 3000003F02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03392
Quality Score
Status
Chromosome 15
Chromosomal Location 94420569-94441428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94434449 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8CE46
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: 155,403,931 (GRCm39) D692E probably damaging Het
Adgrb3 T A 1: 25,543,529 (GRCm39) R366S probably damaging Het
Afg3l2 C A 18: 67,547,139 (GRCm39) probably benign Het
Cd5 T C 19: 10,703,653 (GRCm39) probably benign Het
Cnbd1 A G 4: 18,862,111 (GRCm39) S360P probably damaging Het
Col13a1 A T 10: 61,721,490 (GRCm39) L305I possibly damaging Het
Commd7 A T 2: 153,464,684 (GRCm39) probably benign Het
Cpsf6 A T 10: 117,203,884 (GRCm39) Y23N probably damaging Het
Cry1 A G 10: 84,992,993 (GRCm39) V75A possibly damaging Het
Cyp2c39 A G 19: 39,501,767 (GRCm39) N107D probably benign Het
Dcaf11 T A 14: 55,798,878 (GRCm39) V45E probably damaging Het
Dnm2 A G 9: 21,385,907 (GRCm39) E310G probably damaging Het
Fat3 T A 9: 15,915,158 (GRCm39) I1597L probably benign Het
Fcamr A G 1: 130,728,685 (GRCm39) probably benign Het
Fer A G 17: 64,298,637 (GRCm39) I529V probably damaging Het
Fhdc1 T C 3: 84,351,826 (GRCm39) K1133R possibly damaging Het
Foxd3 A G 4: 99,545,432 (GRCm39) K191E probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gbp8 A G 5: 105,164,410 (GRCm39) probably null Het
Glb1 T G 9: 114,259,389 (GRCm39) N106K probably damaging Het
Hpx A G 7: 105,241,609 (GRCm39) I295T probably damaging Het
Ipo5 T A 14: 121,180,099 (GRCm39) D844E probably damaging Het
Krt17 T C 11: 100,150,561 (GRCm39) I159V possibly damaging Het
Lgi4 G A 7: 30,762,605 (GRCm39) probably null Het
Lrrc49 T C 9: 60,573,563 (GRCm39) probably benign Het
Ltn1 T C 16: 87,222,499 (GRCm39) K178R probably damaging Het
Myh8 T A 11: 67,185,244 (GRCm39) W832R probably damaging Het
Nbn A G 4: 15,962,362 (GRCm39) N30S probably damaging Het
Or2j3 A G 17: 38,615,786 (GRCm39) S189P probably benign Het
Or4a72 A T 2: 89,405,593 (GRCm39) V159D probably damaging Het
Or4f59 T A 2: 111,873,321 (GRCm39) N19Y probably benign Het
Or51ai2 T C 7: 103,587,232 (GRCm39) V215A probably benign Het
Pcdh15 A T 10: 74,460,104 (GRCm39) I1314F probably damaging Het
Phf14 G A 6: 11,962,658 (GRCm39) S435N probably damaging Het
Prss45 T A 9: 110,669,618 (GRCm39) Y231* probably null Het
Sbk2 A G 7: 4,960,408 (GRCm39) F254S probably damaging Het
Serpina1b T G 12: 103,698,329 (GRCm39) K173N possibly damaging Het
Slc13a5 G A 11: 72,136,004 (GRCm39) T469I probably damaging Het
Spon1 A G 7: 113,633,522 (GRCm39) E655G probably damaging Het
Sv2b T C 7: 74,806,508 (GRCm39) probably null Het
Treh A G 9: 44,597,228 (GRCm39) D514G probably damaging Het
Umodl1 T A 17: 31,215,329 (GRCm39) L1051Q probably damaging Het
Usp5 A G 6: 124,803,350 (GRCm39) F4S probably damaging Het
Vmn1r16 A G 6: 57,299,879 (GRCm39) S248P probably damaging Het
Other mutations in Pus7l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Pus7l APN 15 94,429,493 (GRCm39) missense probably benign 0.07
IGL02049:Pus7l APN 15 94,438,059 (GRCm39) missense probably damaging 1.00
IGL02484:Pus7l APN 15 94,427,369 (GRCm39) missense possibly damaging 0.70
IGL02731:Pus7l APN 15 94,421,345 (GRCm39) missense probably benign 0.03
IGL03252:Pus7l APN 15 94,423,691 (GRCm39) missense probably benign 0.00
R0638:Pus7l UTSW 15 94,421,298 (GRCm39) missense probably benign 0.20
R0848:Pus7l UTSW 15 94,438,393 (GRCm39) missense probably benign 0.16
R1646:Pus7l UTSW 15 94,431,517 (GRCm39) missense probably benign 0.33
R1785:Pus7l UTSW 15 94,438,518 (GRCm39) missense probably benign 0.04
R2046:Pus7l UTSW 15 94,438,666 (GRCm39) missense probably benign 0.01
R2206:Pus7l UTSW 15 94,421,471 (GRCm39) missense probably damaging 1.00
R2210:Pus7l UTSW 15 94,438,173 (GRCm39) missense possibly damaging 0.95
R3618:Pus7l UTSW 15 94,425,788 (GRCm39) missense probably damaging 0.97
R4485:Pus7l UTSW 15 94,421,371 (GRCm39) missense probably benign 0.00
R4487:Pus7l UTSW 15 94,429,498 (GRCm39) missense possibly damaging 0.46
R4686:Pus7l UTSW 15 94,438,092 (GRCm39) missense probably damaging 1.00
R4739:Pus7l UTSW 15 94,438,591 (GRCm39) missense probably benign 0.02
R4975:Pus7l UTSW 15 94,427,369 (GRCm39) missense possibly damaging 0.70
R5431:Pus7l UTSW 15 94,427,367 (GRCm39) missense probably damaging 1.00
R5567:Pus7l UTSW 15 94,425,746 (GRCm39) missense probably benign 0.00
R5570:Pus7l UTSW 15 94,425,746 (GRCm39) missense probably benign 0.00
R5896:Pus7l UTSW 15 94,427,332 (GRCm39) splice site probably null
R6408:Pus7l UTSW 15 94,429,456 (GRCm39) missense probably benign 0.06
R6681:Pus7l UTSW 15 94,425,746 (GRCm39) missense probably benign 0.00
R7344:Pus7l UTSW 15 94,438,498 (GRCm39) missense probably benign 0.01
R7811:Pus7l UTSW 15 94,438,707 (GRCm39) missense probably damaging 1.00
R8412:Pus7l UTSW 15 94,425,856 (GRCm39) missense probably benign 0.44
R8833:Pus7l UTSW 15 94,438,143 (GRCm39) missense probably damaging 0.98
R9177:Pus7l UTSW 15 94,431,445 (GRCm39) missense probably benign 0.00
R9268:Pus7l UTSW 15 94,431,445 (GRCm39) missense probably benign 0.00
R9503:Pus7l UTSW 15 94,438,666 (GRCm39) missense probably benign 0.01
R9525:Pus7l UTSW 15 94,438,764 (GRCm39) missense probably damaging 1.00
R9526:Pus7l UTSW 15 94,425,781 (GRCm39) missense probably damaging 1.00
X0065:Pus7l UTSW 15 94,438,654 (GRCm39) missense possibly damaging 0.87
X0066:Pus7l UTSW 15 94,427,374 (GRCm39) missense possibly damaging 0.61
Posted On 2016-08-02