Incidental Mutation 'R6408:Pus7l'
ID 514557
Institutional Source Beutler Lab
Gene Symbol Pus7l
Ensembl Gene ENSMUSG00000033356
Gene Name pseudouridylate synthase 7-like
Synonyms 3000003F02Rik
MMRRC Submission 044553-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6408 (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 94429456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 454 (M454T)
Ref Sequence ENSEMBL: ENSMUSP00000044075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049151]
AlphaFold Q8CE46
Predicted Effect probably benign
Transcript: ENSMUST00000049151
AA Change: M454T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: M454T

DomainStartEndE-ValueType
Pfam:TruD 280 697 1e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147832
Meta Mutation Damage Score 0.1262 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,691,858 (GRCm39) S50P probably damaging Het
4930407I10Rik T C 15: 81,949,307 (GRCm39) V1068A possibly damaging Het
Acss1 A G 2: 150,470,412 (GRCm39) probably null Het
Amer2 T C 14: 60,617,674 (GRCm39) I497T probably damaging Het
Azi2 A T 9: 117,890,550 (GRCm39) R51* probably null Het
Brdt A G 5: 107,533,358 (GRCm39) D946G probably damaging Het
Bzw2 C T 12: 36,157,524 (GRCm39) V314I possibly damaging Het
Capn13 A T 17: 73,672,954 (GRCm39) Y116* probably null Het
Clca4b A G 3: 144,625,036 (GRCm39) I485T probably benign Het
Crybg3 T A 16: 59,316,053 (GRCm39) T1130S possibly damaging Het
Cubn C T 2: 13,299,014 (GRCm39) V3220M probably damaging Het
Cyp4f16 T A 17: 32,770,173 (GRCm39) L514Q probably damaging Het
D7Ertd443e G T 7: 133,951,440 (GRCm39) Q31K probably benign Het
Dcaf15 T C 8: 84,831,355 (GRCm39) E8G probably benign Het
Ddx24 A C 12: 103,391,819 (GRCm39) probably benign Het
Diaph3 T C 14: 87,066,430 (GRCm39) M988V possibly damaging Het
Dlx4 A G 11: 95,036,078 (GRCm39) V77A probably benign Het
Dnah3 T C 7: 119,522,191 (GRCm39) probably null Het
Drc1 A G 5: 30,513,632 (GRCm39) E396G probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gbp2b T C 3: 142,323,899 (GRCm39) L568S probably benign Het
Gjb5 A T 4: 127,249,940 (GRCm39) F68Y probably benign Het
Hs6st3 C A 14: 119,376,046 (GRCm39) P74T probably benign Het
Kif26b T C 1: 178,745,133 (GRCm39) L1743P probably damaging Het
Lnx1 A T 5: 74,846,307 (GRCm39) C48S probably damaging Het
Lrfn2 A G 17: 49,377,654 (GRCm39) H245R probably damaging Het
Lrrc27 A G 7: 138,798,184 (GRCm39) E93G probably benign Het
Mettl6 T C 14: 31,201,683 (GRCm39) E253G probably damaging Het
Nmu A T 5: 76,491,818 (GRCm39) F106Y probably damaging Het
Pcsk7 T C 9: 45,820,994 (GRCm39) I142T probably benign Het
Polr3a A T 14: 24,536,939 (GRCm39) probably null Het
Psmb9 G T 17: 34,404,707 (GRCm39) A19E probably damaging Het
Raet1e A G 10: 22,056,645 (GRCm39) T74A probably benign Het
Ralb A C 1: 119,405,839 (GRCm39) Y43* probably null Het
Ralgapa1 C A 12: 55,730,695 (GRCm39) E1947* probably null Het
Rnf26rt A G 6: 76,473,441 (GRCm39) C392R probably damaging Het
Robo1 T C 16: 72,768,934 (GRCm39) Y500H probably benign Het
Shroom1 A C 11: 53,354,214 (GRCm39) T45P probably benign Het
Slit2 A G 5: 48,142,328 (GRCm39) probably benign Het
Spmip2 A G 3: 79,356,706 (GRCm39) R170G probably benign Het
Srgap3 T C 6: 112,699,967 (GRCm39) S1004G probably damaging Het
Taok2 A G 7: 126,470,164 (GRCm39) V888A probably benign Het
Tbc1d8 T A 1: 39,441,980 (GRCm39) D204V probably damaging Het
Thoc2l A G 5: 104,666,643 (GRCm39) I388M probably benign Het
Trav7d-4 C A 14: 53,007,624 (GRCm39) A39D probably damaging Het
Ush2a G T 1: 187,999,229 (GRCm39) E180* probably null Het
Vmn1r37 A G 6: 66,708,563 (GRCm39) D63G probably benign Het
Zfp282 G A 6: 47,857,319 (GRCm39) R184Q 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
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'- ATCACTGGTCAGGTCTGTCTTC -3'
(R):5'- ACCTCCGTCTGTATTATTGGTG -3'

Sequencing Primer
(F):5'- AAGCTATTGTGTATACTCTGCTTTC -3'
(R):5'- CTCCGTCTGTATTATTGGTGATTAC -3'
Posted On 2018-05-04