Incidental Mutation 'IGL00598:Pdcd7'
ID 4861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd7
Ensembl Gene ENSMUSG00000041837
Gene Name programmed cell death 7
Synonyms ES18
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL00598
Quality Score
Status
Chromosome 9
Chromosomal Location 65253386-65266925 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 65263700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 223 (K223*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048184] [ENSMUST00000147185] [ENSMUST00000214433]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000048184
AA Change: K394*
SMART Domains Protein: ENSMUSP00000035515
Gene: ENSMUSG00000041837
AA Change: K394*

DomainStartEndE-ValueType
low complexity region 8 121 N/A INTRINSIC
Pfam:PDCD7 168 481 6.4e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147185
SMART Domains Protein: ENSMUSP00000128815
Gene: ENSMUSG00000086228

DomainStartEndE-ValueType
coiled coil region 106 129 N/A INTRINSIC
low complexity region 193 210 N/A INTRINSIC
PDB:4AE4|B 269 375 1e-15 PDB
Predicted Effect probably null
Transcript: ENSMUST00000214433
AA Change: K209*
Predicted Effect probably null
Transcript: ENSMUST00000215470
AA Change: K223*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217103
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh11 T C 8: 103,377,281 (GRCm39) N455S probably damaging Het
Cimip4 C T 15: 78,270,438 (GRCm39) G110D probably damaging Het
Clock T C 5: 76,377,311 (GRCm39) I663V probably benign Het
Farp2 A T 1: 93,531,103 (GRCm39) M534L probably benign Het
Gm5464 C T 14: 67,106,836 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,328,218 (GRCm39) R873S probably benign Het
Neb G A 2: 52,098,313 (GRCm39) T4616I possibly damaging Het
Pbrm1 A G 14: 30,752,884 (GRCm39) D107G probably damaging Het
Ppp2r5b A G 19: 6,280,998 (GRCm39) F277S probably damaging Het
Ripor1 G A 8: 106,348,065 (GRCm39) probably benign Het
Serpina12 G A 12: 103,997,373 (GRCm39) H383Y probably benign Het
Other mutations in Pdcd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Pdcd7 APN 9 65,253,985 (GRCm39) missense probably damaging 0.97
R5288:Pdcd7 UTSW 9 65,265,974 (GRCm39) nonsense probably null
R5385:Pdcd7 UTSW 9 65,265,974 (GRCm39) nonsense probably null
R5386:Pdcd7 UTSW 9 65,265,974 (GRCm39) nonsense probably null
R6449:Pdcd7 UTSW 9 65,264,057 (GRCm39) missense probably damaging 0.99
R6610:Pdcd7 UTSW 9 65,261,965 (GRCm39) missense possibly damaging 0.95
R6861:Pdcd7 UTSW 9 65,265,904 (GRCm39) missense probably damaging 1.00
R7868:Pdcd7 UTSW 9 65,254,261 (GRCm39) missense probably damaging 0.99
R8081:Pdcd7 UTSW 9 65,253,967 (GRCm39) missense probably damaging 1.00
R8493:Pdcd7 UTSW 9 65,254,039 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20