Incidental Mutation 'R4431:Pus7'
ID 328605
Institutional Source Beutler Lab
Gene Symbol Pus7
Ensembl Gene ENSMUSG00000057541
Gene Name pseudouridylate synthase 7
Synonyms C330017I15Rik
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 23945646-23988709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23951487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 521 (Y521H)
Ref Sequence ENSEMBL: ENSMUSP00000123129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119946] [ENSMUST00000131992] [ENSMUST00000148618]
AlphaFold Q91VU7
Predicted Effect probably benign
Transcript: ENSMUST00000119946
AA Change: Y521H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: Y521H

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 246 641 9e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129848
Predicted Effect probably benign
Transcript: ENSMUST00000131404
SMART Domains Protein: ENSMUSP00000122033
Gene: ENSMUSG00000057541

DomainStartEndE-ValueType
Pfam:TruD 1 184 3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131992
AA Change: Y521H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: Y521H

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 239 641 1.3e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147922
Predicted Effect probably benign
Transcript: ENSMUST00000148618
AA Change: Y527H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: Y527H

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 251 647 6.3e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148921
Meta Mutation Damage Score 0.0873 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S 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
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
R9485:Pus7 UTSW 5 23,973,859 (GRCm39) missense probably benign 0.01
X0013:Pus7 UTSW 5 23,957,273 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTAAGATTAGCCTTCAAGTACCGC -3'
(R):5'- AGTACTGCTGGGAAGTCTTCTG -3'

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