Incidental Mutation 'IGL01690:Pus7'
ID 104079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pus7
Ensembl Gene ENSMUSG00000057541
Gene Name pseudouridylate synthase 7
Synonyms C330017I15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # IGL01690
Quality Score
Status
Chromosome 5
Chromosomal Location 23945646-23988709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23980962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 134 (S134P)
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: S134P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: S134P

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 246 641 9e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131992
AA Change: S134P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: S134P

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: S134P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: S134P

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 251 647 6.3e-69 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000151449
AA Change: S104P
SMART Domains Protein: ENSMUSP00000120575
Gene: ENSMUSG00000057541
AA Change: S104P

DomainStartEndE-ValueType
low complexity region 48 70 N/A INTRINSIC
low complexity region 136 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195909
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429P17Rik A G 13: 48,114,446 (GRCm39) noncoding transcript Het
Agap2 T C 10: 126,918,827 (GRCm39) probably benign Het
Bicra G A 7: 15,721,678 (GRCm39) T613I probably benign Het
Cd163 T C 6: 124,284,277 (GRCm39) S150P possibly damaging Het
Cfap107 G A 4: 144,165,098 (GRCm39) T26M probably damaging Het
F830045P16Rik T G 2: 129,314,614 (GRCm39) Q221P probably damaging Het
Fam135b T A 15: 71,328,784 (GRCm39) M1172L probably benign Het
Fbxo2 G T 4: 148,249,581 (GRCm39) probably null Het
Frem1 C T 4: 82,877,533 (GRCm39) probably benign Het
Galnt17 C T 5: 131,114,734 (GRCm39) probably null Het
Gipc2 A G 3: 151,833,771 (GRCm39) I170T probably damaging Het
Gm2399 C T 13: 12,717,417 (GRCm39) noncoding transcript Het
Hdac10 T A 15: 89,010,194 (GRCm39) M283L probably benign Het
Icam5 A G 9: 20,946,095 (GRCm39) E309G possibly damaging Het
Ift70a1 A G 2: 75,810,277 (GRCm39) V602A probably benign Het
Igkv3-5 T A 6: 70,640,865 (GRCm39) S115R probably benign Het
Impg2 A G 16: 56,025,568 (GRCm39) R67G probably damaging Het
Kansl1l T C 1: 66,840,232 (GRCm39) Y356C probably damaging Het
Ly75 T C 2: 60,168,655 (GRCm39) D751G probably damaging Het
Lyst A G 13: 13,917,831 (GRCm39) D3297G probably damaging Het
Mall A G 2: 127,571,699 (GRCm39) F30L probably benign Het
Map1b C T 13: 99,571,512 (GRCm39) G403D probably damaging Het
Mmp11 T C 10: 75,762,730 (GRCm39) Y241C probably damaging Het
Niban1 C A 1: 151,579,555 (GRCm39) R425S probably damaging Het
Or4a72 A G 2: 89,405,557 (GRCm39) V171A probably benign Het
Pcnt C T 10: 76,228,609 (GRCm39) A1519T probably damaging Het
Pcsk2 A G 2: 143,529,490 (GRCm39) M96V probably benign Het
Piwil4 T C 9: 14,614,391 (GRCm39) D124G probably damaging Het
Plb1 A T 5: 32,471,041 (GRCm39) I538F probably damaging Het
Polq A G 16: 36,883,200 (GRCm39) D1788G probably damaging Het
Sec61a2 G A 2: 5,891,363 (GRCm39) S56L possibly damaging Het
Sel1l G T 12: 91,810,033 (GRCm39) D26E probably benign Het
Slc25a48 G A 13: 56,612,758 (GRCm39) probably benign Het
Tas2r126 T C 6: 42,412,241 (GRCm39) F258S probably benign Het
Tnfrsf13b G A 11: 61,032,146 (GRCm39) V59I possibly damaging Het
Usp6nl G A 2: 6,445,879 (GRCm39) V619M probably benign Het
Vmn1r67 A G 7: 10,180,767 (GRCm39) I10M possibly damaging Het
Vmn2r71 A G 7: 85,264,782 (GRCm39) D38G probably damaging Het
Other mutations in Pus7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Pus7 APN 5 23,951,422 (GRCm39) critical splice donor site probably null
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
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
Posted On 2014-01-21