Incidental Mutation 'IGL02257:Pus7'
ID286615
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: 0.262) question?
Stock #IGL02257
Quality Score
Status
Chromosome5
Chromosomal Location23740648-23783711 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 23762461 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 247 (H247Q)
Ref Sequence ENSEMBL: ENSMUSP00000123129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119946] [ENSMUST00000131992] [ENSMUST00000148618]
Predicted Effect probably damaging
Transcript: ENSMUST00000119946
AA Change: H247Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: H247Q

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

DomainStartEndE-ValueType
Pfam:TruD 1 184 3e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131992
AA Change: H247Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: H247Q

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: H253Q

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: H253Q

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

DomainStartEndE-ValueType
low complexity region 48 70 N/A INTRINSIC
low complexity region 136 144 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat C T 11: 116,595,709 Q25* probably null Het
Adam8 A T 7: 139,987,648 V394D possibly damaging Het
Ahnak2 A G 12: 112,785,285 F314S possibly damaging Het
Arsg T C 11: 109,521,647 probably benign Het
Atp13a2 T G 4: 141,006,089 V958G probably benign Het
BC003331 A T 1: 150,386,404 I95N probably damaging Het
Ces5a T C 8: 93,525,598 D218G probably benign Het
Cntnap4 T A 8: 112,616,494 L63Q probably damaging Het
Cped1 A G 6: 22,145,607 T655A possibly damaging Het
Ddc A T 11: 11,873,171 L133* probably null Het
Fat4 C T 3: 39,001,139 A4169V probably benign Het
Gnpat T C 8: 124,886,848 probably benign Het
Gpd2 A G 2: 57,364,524 D678G probably benign Het
Hk1 T C 10: 62,271,643 D851G probably benign Het
Hsd11b2 G A 8: 105,523,222 V322I probably benign Het
Hsd17b3 G A 13: 64,059,462 T255M probably benign Het
Hsp90b1 T C 10: 86,698,589 S284G probably damaging Het
Med1 T A 11: 98,180,270 I69L probably damaging Het
Morn3 T G 5: 123,037,725 D200A probably damaging Het
Mtss1 A G 15: 58,956,545 V173A probably damaging Het
Mut C T 17: 40,938,734 T200I possibly damaging Het
Myl6b T C 10: 128,497,341 probably benign Het
Nin A G 12: 70,102,691 V48A possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1490 G A 19: 13,655,265 V279I probably benign Het
Phlpp2 T A 8: 109,920,099 V529E possibly damaging Het
Pnlip G A 19: 58,673,874 V151I probably benign Het
Setd6 T C 8: 95,716,692 Y188H probably damaging Het
Siglecg T C 7: 43,411,904 S444P probably benign Het
Sox9 C A 11: 112,784,985 H333Q possibly damaging Het
Specc1 T A 11: 62,118,417 I333N probably damaging Het
Tmprss11e G A 5: 86,724,180 T59I probably damaging Het
Vmn2r93 A C 17: 18,325,508 probably benign Het
Vrk2 A T 11: 26,534,266 V163D probably damaging Het
Other mutations in Pus7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Pus7 APN 5 23746424 critical splice donor site probably null
IGL01690:Pus7 APN 5 23775964 missense probably damaging 1.00
IGL01813:Pus7 APN 5 23760304 splice site probably benign
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 On2015-04-16