Incidental Mutation 'IGL01690:Pus7'
ID104079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pus7
Ensembl Gene ENSMUSG00000057541
Gene Namepseudouridylate synthase 7
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.308) question?
Stock #IGL01690
Quality Score
Status
Chromosome5
Chromosomal Location23740648-23783711 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23775964 bp
ZygosityHeterozygous
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]
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
1700012P22Rik G A 4: 144,438,528 T26M probably damaging Het
4931429P17Rik A G 13: 47,960,970 noncoding transcript Het
Agap2 T C 10: 127,082,958 probably benign Het
Bicra G A 7: 15,987,753 T613I probably benign Het
Cd163 T C 6: 124,307,318 S150P possibly damaging Het
F830045P16Rik T G 2: 129,472,694 Q221P probably damaging Het
Fam129a C A 1: 151,703,804 R425S probably damaging Het
Fam135b T A 15: 71,456,935 M1172L probably benign Het
Fbxo2 G T 4: 148,165,124 probably null Het
Frem1 C T 4: 82,959,296 probably benign Het
Galnt17 C T 5: 131,085,896 probably null Het
Gipc2 A G 3: 152,128,134 I170T probably damaging Het
Gm2399 C T 13: 12,702,528 noncoding transcript Het
Hdac10 T A 15: 89,125,991 M283L probably benign Het
Icam5 A G 9: 21,034,799 E309G possibly damaging Het
Igkv3-5 T A 6: 70,663,881 S115R probably benign Het
Impg2 A G 16: 56,205,205 R67G probably damaging Het
Kansl1l T C 1: 66,801,073 Y356C probably damaging Het
Ly75 T C 2: 60,338,311 D751G probably damaging Het
Lyst A G 13: 13,743,246 D3297G probably damaging Het
Mall A G 2: 127,729,779 F30L probably benign Het
Map1b C T 13: 99,435,004 G403D probably damaging Het
Mmp11 T C 10: 75,926,896 Y241C probably damaging Het
Olfr1245 A G 2: 89,575,213 V171A probably benign Het
Pcnt C T 10: 76,392,775 A1519T probably damaging Het
Pcsk2 A G 2: 143,687,570 M96V probably benign Het
Piwil4 T C 9: 14,703,095 D124G probably damaging Het
Plb1 A T 5: 32,313,697 I538F probably damaging Het
Polq A G 16: 37,062,838 D1788G probably damaging Het
Sec61a2 G A 2: 5,886,552 S56L possibly damaging Het
Sel1l G T 12: 91,843,259 D26E probably benign Het
Slc25a48 G A 13: 56,464,945 probably benign Het
Tas2r126 T C 6: 42,435,307 F258S probably benign Het
Tnfrsf13b G A 11: 61,141,320 V59I possibly damaging Het
Ttc30a1 A G 2: 75,979,933 V602A probably benign Het
Usp6nl G A 2: 6,441,068 V619M probably benign Het
Vmn1r67 A G 7: 10,446,840 I10M possibly damaging Het
Vmn2r71 A G 7: 85,615,574 D38G probably damaging Het
Other mutations in Pus7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Pus7 APN 5 23746424 critical splice donor site probably null
IGL01813:Pus7 APN 5 23760304 splice site probably benign
IGL02257:Pus7 APN 5 23762461 missense probably damaging 1.00
IGL02892:Pus7 APN 5 23754556 missense probably damaging 1.00
ANU18:Pus7 UTSW 5 23746424 critical splice donor site probably null
R0010:Pus7 UTSW 5 23747845 missense probably benign 0.01
R0139:Pus7 UTSW 5 23778092 missense probably damaging 0.99
R0219:Pus7 UTSW 5 23775966 missense possibly damaging 0.48
R1127:Pus7 UTSW 5 23768795 missense probably benign 0.04
R1655:Pus7 UTSW 5 23747800 nonsense probably null
R1795:Pus7 UTSW 5 23741916 missense probably damaging 1.00
R1906:Pus7 UTSW 5 23778211 missense probably damaging 0.98
R4379:Pus7 UTSW 5 23748866 intron probably benign
R4430:Pus7 UTSW 5 23746489 missense probably benign 0.30
R4431:Pus7 UTSW 5 23746489 missense probably benign 0.30
R5569:Pus7 UTSW 5 23748834 missense probably benign 0.01
R6854:Pus7 UTSW 5 23768847 synonymous silent
R7051:Pus7 UTSW 5 23775679 missense probably damaging 0.98
R7238:Pus7 UTSW 5 23778452 missense probably benign 0.00
R7278:Pus7 UTSW 5 23752344 missense probably damaging 0.99
R7297:Pus7 UTSW 5 23741910 missense probably damaging 1.00
R7540:Pus7 UTSW 5 23760246 missense probably damaging 0.99
R7650:Pus7 UTSW 5 23760246 missense probably damaging 0.99
X0013:Pus7 UTSW 5 23752275 missense probably benign 0.00
Posted On2014-01-21