Incidental Mutation 'IGL01301:Pus7'
ID73254
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 #IGL01301
Quality Score
Status
Chromosome5
Chromosomal Location23740648-23783711 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 23746424 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119946] [ENSMUST00000131992] [ENSMUST00000148618]
Predicted Effect probably null
Transcript: ENSMUST00000119946
SMART Domains Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541

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 null
Transcript: ENSMUST00000131992
SMART Domains Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541

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 null
Transcript: ENSMUST00000148618
SMART Domains Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541

DomainStartEndE-ValueType
low complexity region 77 99 N/A INTRINSIC
Pfam:TruD 251 647 6.3e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148921
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 14,943,919 probably null Het
Acacb A T 5: 114,246,498 I2238L probably benign Het
Aldh1l2 T C 10: 83,522,846 Y95C probably damaging Het
Asxl2 A G 12: 3,501,425 T1056A probably damaging Het
B4galnt1 A G 10: 127,169,779 T250A possibly damaging Het
Cela3b A T 4: 137,423,843 probably null Het
Chst3 T C 10: 60,185,832 T398A probably damaging Het
Cngb3 A G 4: 19,425,625 T478A probably damaging Het
Cyp4a10 T C 4: 115,518,455 L45P probably damaging Het
Defb21 A G 2: 152,574,751 E49G possibly damaging Het
Dnajc1 T C 2: 18,308,834 T159A probably damaging Het
Dnmbp A G 19: 43,902,354 S325P probably benign Het
Fam91a1 T C 15: 58,442,871 F534L probably damaging Het
Fermt2 T C 14: 45,464,863 E488G probably damaging Het
Filip1 T C 9: 79,819,180 D719G possibly damaging Het
Gad1-ps A G 10: 99,445,151 noncoding transcript Het
Glra3 C A 8: 55,940,962 A36E probably benign Het
Gm9884 T A 1: 25,830,648 probably benign Het
Hectd2 T C 19: 36,569,370 probably benign Het
Hnrnpm C T 17: 33,669,168 probably null Het
Lrrk2 T A 15: 91,767,339 Y1733N probably damaging Het
Mindy1 T C 3: 95,288,390 L148P probably damaging Het
Mkrn2 C A 6: 115,611,789 Y164* probably null Het
Msra T C 14: 64,210,435 Y135C probably damaging Het
Ndst3 C T 3: 123,548,916 A749T probably damaging Het
Ngdn G T 14: 55,017,114 A41S probably benign Het
Nlrp12 A T 7: 3,240,092 S597T probably damaging Het
Olfr1451 A T 19: 12,999,417 I144F probably damaging Het
Pabpc6 A G 17: 9,667,970 S551P probably benign Het
Plekhg5 C T 4: 152,112,553 A752V probably benign Het
Prpf4b T C 13: 34,884,291 S368P probably benign Het
Rad23b T C 4: 55,366,774 probably benign Het
Rgs13 T C 1: 144,171,414 probably benign Het
Sfpq T C 4: 127,026,760 probably benign Het
Slc9a9 T A 9: 95,055,459 S455T probably benign Het
Slco1a1 A G 6: 141,932,530 probably benign Het
Tmem26 A T 10: 68,778,606 N284Y probably damaging Het
Tmem87a T C 2: 120,380,769 I232V probably benign Het
Trpm2 A G 10: 77,923,984 L1106P probably damaging Het
Vmn1r18 T C 6: 57,389,667 probably benign Het
Zfp213 G T 17: 23,561,417 A43D probably benign Het
Zfp365 A G 10: 67,909,354 V198A probably damaging Het
Zfp395 T A 14: 65,394,751 probably null Het
Zfp618 G A 4: 63,132,826 V615M probably damaging Het
Other mutations in Pus7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01690:Pus7 APN 5 23775964 missense probably damaging 1.00
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 On2013-10-07