Incidental Mutation 'R9485:Pus7'
ID 716507
Institutional Source Beutler Lab
Gene Symbol Pus7
Ensembl Gene ENSMUSG00000057541
Gene Name pseudouridylate synthase 7
Synonyms C330017I15Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # R9485 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 23945646-23988709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23973859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 212 (S212T)
Ref Sequence ENSEMBL: ENSMUSP00000114588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119946] [ENSMUST00000131992] [ENSMUST00000148618]
AlphaFold Q91VU7
Predicted Effect probably benign
Transcript: ENSMUST00000119946
AA Change: S212T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: S212T

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 246 641 9e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131992
AA Change: S212T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: S212T

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 239 641 1.3e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148618
AA Change: S212T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: S212T

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 251 647 6.3e-69 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000120575
Gene: ENSMUSG00000057541
AA Change: N170K

DomainStartEndE-ValueType
low complexity region 48 70 N/A INTRINSIC
low complexity region 136 144 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,400 (GRCm39) D855G possibly damaging Het
4930486L24Rik A T 13: 61,001,059 (GRCm39) V159D possibly damaging Het
Ahnak G A 19: 8,979,438 (GRCm39) A241T probably benign Het
Apoa4 T C 9: 46,152,453 (GRCm39) M1T probably null Het
Atn1 T C 6: 124,722,748 (GRCm39) K776E unknown Het
Atp1a2 A G 1: 172,105,822 (GRCm39) *948R probably null Het
Atp7b T C 8: 22,502,778 (GRCm39) Q801R probably damaging Het
Birc6 T A 17: 74,945,398 (GRCm39) S2824T probably damaging Het
Cacng3 A T 7: 122,361,435 (GRCm39) I109F probably damaging Het
Cass4 T C 2: 172,269,805 (GRCm39) F629S probably benign Het
Ccdc168 T G 1: 44,095,399 (GRCm39) K1900Q possibly damaging Het
Cnot6l T C 5: 96,230,858 (GRCm39) T370A probably damaging Het
Cntnap5c A C 17: 58,409,103 (GRCm39) D447A probably damaging Het
Col11a2 T A 17: 34,258,669 (GRCm39) L14Q unknown Het
Dennd4a T G 9: 64,814,388 (GRCm39) Y1505* probably null Het
Dhx32 T C 7: 133,327,110 (GRCm39) M464V possibly damaging Het
Dip2b T C 15: 100,052,924 (GRCm39) V266A probably benign Het
Dnajb6 C T 5: 29,986,517 (GRCm39) Q220* probably null Het
Dnmt3a G A 12: 3,916,121 (GRCm39) S102N probably benign Het
Dph5 A T 3: 115,681,977 (GRCm39) probably benign Het
Ear6 T A 14: 52,091,489 (GRCm39) L12H Het
Erp27 T C 6: 136,886,548 (GRCm39) T162A possibly damaging Het
Fance T A 17: 28,536,479 (GRCm39) L13H probably damaging Het
Fanci T A 7: 79,089,405 (GRCm39) V947D probably benign Het
Gab1 G A 8: 81,515,484 (GRCm39) T278M probably damaging Het
Gbp4 A T 5: 105,269,796 (GRCm39) M344K probably damaging Het
Gpr87 C T 3: 59,087,005 (GRCm39) V167M possibly damaging Het
Gramd1a T G 7: 30,829,963 (GRCm39) D708A unknown Het
Gzmd T A 14: 56,368,160 (GRCm39) I100F probably benign Het
Hcrtr1 T A 4: 130,031,054 (GRCm39) M77L possibly damaging Het
Hipk2 C A 6: 38,680,445 (GRCm39) R965L possibly damaging Het
Ift88 T C 14: 57,675,724 (GRCm39) M79T probably benign Het
Ighv1-12 T C 12: 114,579,525 (GRCm39) Y99C possibly damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Il22b A G 10: 118,130,314 (GRCm39) V63A probably benign Het
Mllt1 C T 17: 57,207,184 (GRCm39) R220H probably damaging Het
Mroh8 T C 2: 157,071,913 (GRCm39) T531A probably benign Het
Myh6 T C 14: 55,181,802 (GRCm39) K1833R probably benign Het
Nfkbie C T 17: 45,871,353 (GRCm39) T270I probably damaging Het
Or4c110 G A 2: 88,831,709 (GRCm39) P308S unknown Het
Or52b3 A T 7: 102,204,013 (GRCm39) N174I probably damaging Het
Or52e5 C T 7: 104,718,703 (GRCm39) H10Y possibly damaging Het
Pcdh8 A T 14: 80,005,689 (GRCm39) F900I probably damaging Het
Pcolce2 T A 9: 95,520,720 (GRCm39) C32* probably null Het
Rgs12 G T 5: 35,189,614 (GRCm39) W1322L probably damaging Het
Sec1 G A 7: 45,328,033 (GRCm39) T338I probably damaging Het
Slc25a36 T C 9: 96,962,522 (GRCm39) K156E probably benign Het
Snrpn C T 7: 59,637,212 (GRCm39) D35N probably damaging Het
Sox9 A G 11: 112,673,705 (GRCm39) S99G probably benign Het
Spmip3 T C 1: 177,580,545 (GRCm39) V130A possibly damaging Het
Tacc3 T C 5: 33,821,644 (GRCm39) S135P possibly damaging Het
Taf2 T C 15: 54,911,667 (GRCm39) E583G probably benign Het
Tmprss7 T A 16: 45,498,282 (GRCm39) K366* probably null Het
Trpm6 G T 19: 18,755,978 (GRCm39) V74L probably benign Het
Ttbk2 G T 2: 120,575,986 (GRCm39) T997N probably benign Het
Utp25 C A 1: 192,812,541 (GRCm39) probably benign Het
Vmn2r3 T A 3: 64,183,046 (GRCm39) I218F probably damaging Het
Vps50 T C 6: 3,592,557 (GRCm39) V730A probably damaging Het
Wdr47 A T 3: 108,544,371 (GRCm39) I665F probably damaging Het
Wnt7a T A 6: 91,343,297 (GRCm39) N195I probably benign Het
Zfp131 A G 13: 120,251,885 (GRCm39) probably benign Het
Zfp709 T A 8: 72,643,669 (GRCm39) V366E possibly damaging Het
Zfp985 T A 4: 147,668,280 (GRCm39) C383S probably damaging Het
Other mutations in Pus7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Pus7 APN 5 23,951,422 (GRCm39) critical splice donor site probably null
IGL01690:Pus7 APN 5 23,980,962 (GRCm39) missense probably damaging 1.00
IGL01813:Pus7 APN 5 23,965,302 (GRCm39) splice site probably benign
IGL02257:Pus7 APN 5 23,967,459 (GRCm39) missense probably damaging 1.00
IGL02892:Pus7 APN 5 23,959,554 (GRCm39) missense probably damaging 1.00
pyrite UTSW 5 23,965,244 (GRCm39) missense probably damaging 0.99
ANU18:Pus7 UTSW 5 23,951,422 (GRCm39) critical splice donor site probably null
R0010:Pus7 UTSW 5 23,952,843 (GRCm39) missense probably benign 0.01
R0139:Pus7 UTSW 5 23,983,090 (GRCm39) missense probably damaging 0.99
R0219:Pus7 UTSW 5 23,980,964 (GRCm39) missense possibly damaging 0.48
R1127:Pus7 UTSW 5 23,973,793 (GRCm39) missense probably benign 0.04
R1655:Pus7 UTSW 5 23,952,798 (GRCm39) nonsense probably null
R1795:Pus7 UTSW 5 23,946,914 (GRCm39) missense probably damaging 1.00
R1906:Pus7 UTSW 5 23,983,209 (GRCm39) missense probably damaging 0.98
R4379:Pus7 UTSW 5 23,953,864 (GRCm39) intron probably benign
R4430:Pus7 UTSW 5 23,951,487 (GRCm39) missense probably benign 0.30
R4431:Pus7 UTSW 5 23,951,487 (GRCm39) missense probably benign 0.30
R5569:Pus7 UTSW 5 23,953,832 (GRCm39) missense probably benign 0.01
R6854:Pus7 UTSW 5 23,973,845 (GRCm39) synonymous silent
R7051:Pus7 UTSW 5 23,980,677 (GRCm39) missense probably damaging 0.98
R7238:Pus7 UTSW 5 23,983,450 (GRCm39) missense probably benign 0.00
R7278:Pus7 UTSW 5 23,957,342 (GRCm39) missense probably damaging 0.99
R7297:Pus7 UTSW 5 23,946,908 (GRCm39) missense probably damaging 1.00
R7540:Pus7 UTSW 5 23,965,244 (GRCm39) missense probably damaging 0.99
R7650:Pus7 UTSW 5 23,965,244 (GRCm39) missense probably damaging 0.99
R7992:Pus7 UTSW 5 23,951,465 (GRCm39) missense possibly damaging 0.66
R8843:Pus7 UTSW 5 23,980,754 (GRCm39) missense probably benign 0.00
R8887:Pus7 UTSW 5 23,948,476 (GRCm39) nonsense probably null
R9102:Pus7 UTSW 5 23,957,380 (GRCm39) missense possibly damaging 0.93
X0013:Pus7 UTSW 5 23,957,273 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCATAAGATGTCAGCCCATG -3'
(R):5'- TTGTGTAGTGCTCCCACAAC -3'

Sequencing Primer
(F):5'- ATGTCAGCCCATGGACATG -3'
(R):5'- GCAGCTCAGACGTGTTTTCTCAAG -3'
Posted On 2022-07-18