Incidental Mutation 'R7344:Pus7l'
ID 570115
Institutional Source Beutler Lab
Gene Symbol Pus7l
Ensembl Gene ENSMUSG00000033356
Gene Name pseudouridylate synthase 7-like
Synonyms 3000003F02Rik
MMRRC Submission 045434-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7344 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 94420569-94441428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94438498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 116 (S116P)
Ref Sequence ENSEMBL: ENSMUSP00000044075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049151] [ENSMUST00000074936] [ENSMUST00000109248] [ENSMUST00000134061]
AlphaFold Q8CE46
Predicted Effect probably benign
Transcript: ENSMUST00000049151
AA Change: S116P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: S116P

DomainStartEndE-ValueType
Pfam:TruD 280 697 1e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074936
SMART Domains Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883

DomainStartEndE-ValueType
PDB:1WH4|A 1 114 1e-78 PDB
Pfam:Pkinase_Tyr 187 454 3.3e-53 PFAM
Pfam:Pkinase 187 456 4.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109248
SMART Domains Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883

DomainStartEndE-ValueType
Pfam:Death 20 101 1.6e-6 PFAM
Pfam:Pkinase_Tyr 187 452 1.9e-51 PFAM
Pfam:Pkinase 188 452 1.3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134061
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A C 11: 58,182,273 (GRCm39) Y216S Het
Anpep G T 7: 79,488,398 (GRCm39) S477R possibly damaging Het
Atp7b T C 8: 22,487,515 (GRCm39) D1293G probably damaging Het
Caprin2 A G 6: 148,774,565 (GRCm39) V249A probably benign Het
Cep41 C T 6: 30,693,655 (GRCm39) R5K probably benign Het
Cyp2c23 A T 19: 44,010,176 (GRCm39) probably null Het
Dazap2 T A 15: 100,514,824 (GRCm39) V15E possibly damaging Het
Ecpas A T 4: 58,824,770 (GRCm39) D1070E probably benign Het
Epha8 T A 4: 136,661,849 (GRCm39) H582L probably benign Het
Fam193a A G 5: 34,643,074 (GRCm39) T1513A possibly damaging Het
Fancd2 T C 6: 113,545,670 (GRCm39) V901A probably benign Het
Fbl T A 7: 27,878,360 (GRCm39) V284E probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Fbxw16 A G 9: 109,278,103 (GRCm39) V25A probably benign Het
Fcgbpl1 C T 7: 27,852,185 (GRCm39) T1236I possibly damaging Het
Fcgbpl1 T C 7: 27,839,704 (GRCm39) S506P possibly damaging Het
Gm11562 T G 11: 99,511,195 (GRCm39) T2P unknown Het
Gm17728 G T 17: 9,640,955 (GRCm39) G22W probably damaging Het
Gm30083 A G 14: 33,721,537 (GRCm39) Y190H probably benign Het
Gm6793 T A 8: 112,741,561 (GRCm39) D27V probably damaging Het
Gm7324 A G 14: 43,952,134 (GRCm39) D259G probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Ildr2 T A 1: 166,122,166 (GRCm39) V203E probably damaging Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Irx5 A G 8: 93,086,183 (GRCm39) T89A probably benign Het
Itga7 A G 10: 128,776,798 (GRCm39) N221S possibly damaging Het
Lpcat2 T C 8: 93,602,195 (GRCm39) W259R probably damaging Het
Lrrc8e C T 8: 4,284,815 (GRCm39) R347C probably damaging Het
Lyst T A 13: 13,881,140 (GRCm39) D2790E probably benign Het
Magi2 G A 5: 20,755,238 (GRCm39) R604Q probably benign Het
Mertk C A 2: 128,613,417 (GRCm39) H478N probably benign Het
Mical3 T A 6: 121,013,505 (GRCm39) K293* probably null Het
Nod2 T C 8: 89,387,210 (GRCm39) L168P probably damaging Het
Npnt T C 3: 132,614,100 (GRCm39) probably null Het
Or1x6 T G 11: 50,939,122 (GRCm39) F63V probably damaging Het
Or5af1 A T 11: 58,722,308 (GRCm39) E109D probably damaging Het
Or8b37 T C 9: 37,959,253 (GRCm39) M245T probably benign Het
Or9g4 A T 2: 85,505,275 (GRCm39) Y73* probably null Het
Plcd4 A T 1: 74,593,811 (GRCm39) D312V probably damaging Het
Prss58 A G 6: 40,872,399 (GRCm39) I208T probably damaging Het
Rcc1l A T 5: 134,205,276 (GRCm39) I93N probably benign Het
Rftn2 A C 1: 55,265,311 (GRCm39) Y36* probably null Het
Rp1l1 G A 14: 64,267,069 (GRCm39) R885Q probably benign Het
Rpgrip1 A T 14: 52,378,116 (GRCm39) D488V probably damaging Het
Sacs A G 14: 61,444,893 (GRCm39) Y2313C possibly damaging Het
Scrib T C 15: 75,921,107 (GRCm39) Y1332C probably damaging Het
Serpinb10 T C 1: 107,468,672 (GRCm39) V105A probably damaging Het
Slc35d1 A T 4: 103,070,243 (GRCm39) probably null Het
Slfn3 T C 11: 83,103,648 (GRCm39) V173A probably benign Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Stard9 A T 2: 120,535,167 (GRCm39) D3808V possibly damaging Het
Supt16 A T 14: 52,411,028 (GRCm39) V692D probably damaging Het
Tapt1 A T 5: 44,345,999 (GRCm39) V317E probably damaging Het
Vmn2r101 T C 17: 19,832,059 (GRCm39) I685T probably benign Het
Vmn2r92 A G 17: 18,387,513 (GRCm39) I173V probably benign Het
Vps54 T C 11: 21,224,999 (GRCm39) I165T probably damaging Het
Zswim4 G A 8: 84,950,327 (GRCm39) R628* probably null Het
Zzz3 T C 3: 152,157,736 (GRCm39) S770P 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
IGL03392:Pus7l APN 15 94,434,449 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCTGGTTTCCTACGGTGATC -3'
(R):5'- TTAGTCAGTAAGGCCACCGATG -3'

Sequencing Primer
(F):5'- CAGAACAGCTCTGCGGTTTTTG -3'
(R):5'- ACCGATGGATCTCTCTATGAAATTAG -3'
Posted On 2019-09-13