Incidental Mutation 'R4430:Pus7'
ID 328557
Institutional Source Beutler Lab
Gene Symbol Pus7
Ensembl Gene ENSMUSG00000057541
Gene Name pseudouridylate synthase 7
Synonyms C330017I15Rik
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # R4430 (G1)
Quality Score 225
Status Not 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: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Aak1 A G 6: 86,963,348 (GRCm39) N926S unknown Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
Gm14412 C A 2: 177,007,625 (GRCm39) S90I probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mcm3 A T 1: 20,882,217 (GRCm39) L449* probably null Het
Mif4gd T C 11: 115,499,328 (GRCm39) T185A probably benign Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Spata4 T C 8: 55,054,878 (GRCm39) I86T probably benign Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G 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
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
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'- AAGATTAGCCTTCAAGTACCGC -3'
(R):5'- AGTACTGCTGGGAAGTCTTCTG -3'

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