Incidental Mutation 'R4485:Pus7l'
ID 331591
Institutional Source Beutler Lab
Gene Symbol Pus7l
Ensembl Gene ENSMUSG00000033356
Gene Name pseudouridylate synthase 7-like
Synonyms 3000003F02Rik
MMRRC Submission 041741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4485 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 94420569-94441428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94421371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 646 (H646Q)
Ref Sequence ENSEMBL: ENSMUSP00000044075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049151]
AlphaFold Q8CE46
Predicted Effect probably benign
Transcript: ENSMUST00000049151
AA Change: H646Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: H646Q

DomainStartEndE-ValueType
Pfam:TruD 280 697 1e-70 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt2 A T 15: 10,378,968 (GRCm39) I190L possibly damaging Het
Ahnak2 A G 12: 112,745,944 (GRCm39) probably benign Het
Apol7b C A 15: 77,307,866 (GRCm39) V210L probably benign Het
Banf2 C T 2: 143,915,772 (GRCm39) T71M probably damaging Het
Cacna1s A G 1: 136,004,590 (GRCm39) D130G probably damaging Het
Capn8 T C 1: 182,426,306 (GRCm39) F214L possibly damaging Het
Ccdc168 A G 1: 44,099,283 (GRCm39) L605S probably benign Het
Cdk5rap2 A T 4: 70,157,520 (GRCm39) probably null Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cpb1 T G 3: 20,303,865 (GRCm39) M400L probably benign Het
Eps15l1 A T 8: 73,153,531 (GRCm39) I52N possibly damaging Het
Gbp9 C G 5: 105,231,674 (GRCm39) G304A probably damaging Het
Gm14226 G A 2: 154,867,191 (GRCm39) V383I probably benign Het
Itprid1 A G 6: 55,864,051 (GRCm39) T126A probably benign Het
Npm2 A T 14: 70,885,749 (GRCm39) V152D possibly damaging Het
Nsd1 T C 13: 55,393,434 (GRCm39) V345A probably benign Het
Or56a3 T A 7: 104,735,808 (GRCm39) V295D probably damaging Het
Or5b107 T C 19: 13,142,855 (GRCm39) V159A possibly damaging Het
Or5b118 T C 19: 13,448,919 (GRCm39) I195T probably benign Het
Or5p58 T C 7: 107,694,222 (GRCm39) D185G probably benign Het
Otof T A 5: 30,532,344 (GRCm39) H1601L possibly damaging Het
Plat G A 8: 23,262,228 (GRCm39) S84N probably benign Het
Prss30 T C 17: 24,192,130 (GRCm39) D224G probably damaging Het
Psg25 C A 7: 18,260,203 (GRCm39) V232F probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Ryr1 C T 7: 28,789,581 (GRCm39) S1511N probably damaging Het
Slc16a1 A G 3: 104,562,794 (GRCm39) K413R probably benign Het
Snrnp48 T A 13: 38,400,304 (GRCm39) M137K probably benign Het
Tecta T A 9: 42,248,570 (GRCm39) H1944L possibly damaging Het
Tmem145 A G 7: 25,006,587 (GRCm39) E65G possibly damaging Het
Vmn2r87 A T 10: 130,315,678 (GRCm39) Y129* probably null Het
Wdr7 A G 18: 63,910,621 (GRCm39) H671R possibly damaging Het
Zfp219 A G 14: 52,244,841 (GRCm39) V518A probably damaging Het
Zfp472 T C 17: 33,196,542 (GRCm39) W206R possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGACATCAGGGTGTGTGAGC -3'
(R):5'- TTTCTGAAGGCTAATCCACAGGC -3'

Sequencing Primer
(F):5'- TGTGAGCTTAAATGTCGCCC -3'
(R):5'- ACAGGCCGTGGTTTCTCC -3'
Posted On 2015-07-21