Incidental Mutation 'R7278:Pus7'
ID 571537
Institutional Source Beutler Lab
Gene Symbol Pus7
Ensembl Gene ENSMUSG00000057541
Gene Name pseudouridylate synthase 7
Synonyms C330017I15Rik
MMRRC Submission 045360-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.643) question?
Stock # R7278 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 23945646-23988709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23957342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 370 (S370P)
Ref Sequence ENSEMBL: ENSMUSP00000114588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119946] [ENSMUST00000131992] [ENSMUST00000148618]
AlphaFold Q91VU7
Predicted Effect probably damaging
Transcript: ENSMUST00000119946
AA Change: S364P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: S364P

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 246 641 9e-69 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000122033
Gene: ENSMUSG00000057541
AA Change: S101P

DomainStartEndE-ValueType
Pfam:TruD 1 184 3e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131992
AA Change: S364P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: S364P

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 239 641 1.3e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148618
AA Change: S370P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: S370P

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 251 647 6.3e-69 PFAM
Meta Mutation Damage Score 0.6601 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,771,237 (GRCm39) L142P probably benign Het
Abca13 A T 11: 9,241,126 (GRCm39) R996S possibly damaging Het
Abcb6 A G 1: 75,151,017 (GRCm39) F558L possibly damaging Het
Acp7 T A 7: 28,330,307 (GRCm39) D2V unknown Het
Acvr1c T C 2: 58,174,948 (GRCm39) D280G probably damaging Het
Atp8a1 A G 5: 67,781,380 (GRCm39) S1124P Het
B4galnt1 A T 10: 127,003,657 (GRCm39) T207S probably benign Het
C2cd4d C A 3: 94,271,445 (GRCm39) T237N probably benign Het
C8b T C 4: 104,637,824 (GRCm39) C99R probably damaging Het
Ccnk C A 12: 108,159,964 (GRCm39) Q149K possibly damaging Het
Chfr A G 5: 110,288,226 (GRCm39) D47G probably benign Het
Chid1 A T 7: 141,109,401 (GRCm39) probably null Het
Cibar2 T A 8: 120,895,342 (GRCm39) T187S possibly damaging Het
Cmya5 T A 13: 93,232,208 (GRCm39) E960V probably damaging Het
Col18a1 A G 10: 76,932,118 (GRCm39) S112P unknown Het
Cps1 G A 1: 67,210,080 (GRCm39) V637I probably damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp2c54 A T 19: 40,058,697 (GRCm39) L245* probably null Het
Ddr2 G T 1: 169,812,530 (GRCm39) T654K probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Elavl4 C T 4: 110,068,622 (GRCm39) probably null Het
Emilin1 T C 5: 31,078,004 (GRCm39) V921A probably benign Het
Evpl T A 11: 116,113,939 (GRCm39) E1250D probably damaging Het
Fam228a C T 12: 4,782,790 (GRCm39) G101E probably benign Het
Gemin4 T C 11: 76,102,932 (GRCm39) T610A probably damaging Het
Glis1 T C 4: 107,292,880 (GRCm39) M1T probably null Het
Gm14399 C T 2: 174,972,252 (GRCm39) probably benign Het
Gorasp2 C T 2: 70,509,849 (GRCm39) T170I probably damaging Het
Gpr37 A G 6: 25,669,341 (GRCm39) V501A possibly damaging Het
Grik4 T A 9: 42,533,356 (GRCm39) Q388L probably benign Het
Hspg2 T A 4: 137,278,436 (GRCm39) D3035E probably damaging Het
Htr4 A T 18: 62,545,247 (GRCm39) N11Y probably benign Het
Itgb2l A G 16: 96,230,243 (GRCm39) S356P probably damaging Het
Klk1b22 A G 7: 43,764,173 (GRCm39) N34D probably benign Het
Lmcd1 A G 6: 112,287,500 (GRCm39) D62G possibly damaging Het
Lrp2 C T 2: 69,316,696 (GRCm39) G2095E probably damaging Het
Macf1 T A 4: 123,334,536 (GRCm39) E4407V possibly damaging Het
Mcm5 T C 8: 75,851,487 (GRCm39) F631L probably benign Het
Mov10l1 A G 15: 88,878,071 (GRCm39) S170G probably benign Het
Muc5b A T 7: 141,411,239 (GRCm39) D1395V unknown Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Myh15 A G 16: 48,911,468 (GRCm39) D300G probably damaging Het
Naa80 T C 9: 107,460,498 (GRCm39) L131P probably damaging Het
Ndst4 A G 3: 125,231,952 (GRCm39) T174A probably benign Het
Nek5 T A 8: 22,580,500 (GRCm39) N406I probably benign Het
Nr2c2 G A 6: 92,136,359 (GRCm39) V400I probably damaging Het
Or1l4 T C 2: 37,092,092 (GRCm39) Y280H probably damaging Het
Or1l4b G T 2: 37,037,021 (GRCm39) V266L probably benign Het
Or51aa2 A T 7: 103,187,935 (GRCm39) Y169N probably benign Het
Or52m1 T C 7: 102,290,190 (GRCm39) S246P probably damaging Het
Or6b1 G A 6: 42,811,330 (GRCm39) probably null Het
Or6c5c T A 10: 129,298,620 (GRCm39) I25N probably damaging Het
Parn T C 16: 13,443,927 (GRCm39) probably null Het
Pfkl T C 10: 77,827,857 (GRCm39) T468A probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Plce1 T C 19: 38,768,340 (GRCm39) I2205T possibly damaging Het
Prss16 A T 13: 22,187,317 (GRCm39) N442K probably damaging Het
Ripk3 G T 14: 56,024,741 (GRCm39) Y210* probably null Het
Rps6ka2 C A 17: 7,539,034 (GRCm39) F317L probably damaging Het
Slc13a3 G A 2: 165,287,448 (GRCm39) R169W possibly damaging Het
Slc6a21 T A 7: 44,931,904 (GRCm39) I256N possibly damaging Het
Slc6a9 G A 4: 117,725,303 (GRCm39) R589Q probably benign Het
Slc8a2 T C 7: 15,875,077 (GRCm39) S442P probably damaging Het
Snupn T A 9: 56,890,028 (GRCm39) M283K probably damaging Het
Steap3 A T 1: 120,162,087 (GRCm39) M395K probably damaging Het
Sv2b G A 7: 74,797,402 (GRCm39) P331S probably damaging Het
Tlr1 A G 5: 65,084,115 (GRCm39) V154A probably benign Het
Tmem131 A G 1: 36,835,382 (GRCm39) S1580P probably damaging Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Trav14d-3-dv8 G A 14: 53,316,218 (GRCm39) R26H probably benign Het
Trp53 C T 11: 69,482,081 (GRCm39) L365F probably benign Het
Trp53bp1 A T 2: 121,029,516 (GRCm39) I1838N probably damaging Het
Ugt1a5 A T 1: 88,094,608 (GRCm39) K279* probably null Het
Unc80 A G 1: 66,591,368 (GRCm39) E1141G possibly damaging Het
Vti1b T C 12: 79,213,153 (GRCm39) D49G probably benign Het
Wnt10a A T 1: 74,832,641 (GRCm39) H78L possibly damaging Het
Zfp869 G A 8: 70,159,128 (GRCm39) H482Y probably damaging Het
Zfyve1 A G 12: 83,598,314 (GRCm39) V638A 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
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'- CTCAGCTAAACAGTGAGACAATG -3'
(R):5'- GCTAATTTCAAGCACAGTGAGAAAG -3'

Sequencing Primer
(F):5'- AGACAATGTCTCAGAAAACAAGAC -3'
(R):5'- GGTTTTCTCAAAGAACCAGCTC -3'
Posted On 2019-09-13