Incidental Mutation 'IGL02154:Phb1'
ID 282169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phb1
Ensembl Gene ENSMUSG00000038845
Gene Name prohibitin 1
Synonyms Phb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02154
Quality Score
Status
Chromosome 11
Chromosomal Location 95557783-95571599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95565997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 94 (I94V)
Ref Sequence ENSEMBL: ENSMUSP00000047536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036374] [ENSMUST00000125172]
AlphaFold P67778
Predicted Effect possibly damaging
Transcript: ENSMUST00000036374
AA Change: I94V

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047536
Gene: ENSMUSG00000038845
AA Change: I94V

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123071
Predicted Effect probably benign
Transcript: ENSMUST00000125172
AA Change: I94V

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119603
Gene: ENSMUSG00000038845
AA Change: I94V

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Blast:PHB 198 248 6e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180389
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 is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit early embryonic lethality while heterozygotes exhibit altered mammary gland development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armh4 G A 14: 50,010,399 (GRCm39) T436I possibly damaging Het
AW551984 G A 9: 39,500,398 (GRCm39) R787C possibly damaging Het
Cadm1 A T 9: 47,725,201 (GRCm39) I321L probably benign Het
Cfap57 A G 4: 118,470,214 (GRCm39) L222P probably damaging Het
Cox20 A G 1: 178,150,119 (GRCm39) I98V probably benign Het
Dmrta1 A G 4: 89,580,150 (GRCm39) N370S probably benign Het
Dnah17 A G 11: 118,015,087 (GRCm39) F386L probably benign Het
Fam135b T C 15: 71,320,559 (GRCm39) I1323V probably benign Het
Fndc3b A G 3: 27,592,266 (GRCm39) S211P probably damaging Het
Galnt10 T G 11: 57,675,531 (GRCm39) L597V probably damaging Het
Gtf2e2 T C 8: 34,245,989 (GRCm39) probably null Het
Inpp4b T A 8: 82,696,130 (GRCm39) probably benign Het
Irag2 T G 6: 145,083,967 (GRCm39) M44R possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Mdn1 A G 4: 32,740,395 (GRCm39) D3750G probably benign Het
Mme A T 3: 63,250,976 (GRCm39) Q339L probably benign Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Myrf A T 19: 10,193,482 (GRCm39) I558N probably damaging Het
Or52e8 C T 7: 104,625,188 (GRCm39) M1I probably null Het
Prg4 T A 1: 150,330,613 (GRCm39) probably benign Het
Sirpb1a T C 3: 15,475,504 (GRCm39) T344A probably damaging Het
Skap2 T C 6: 51,989,308 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,897,089 (GRCm39) I399T probably damaging Het
Sorl1 C T 9: 41,915,330 (GRCm39) V1300I probably benign Het
Tas2r117 T C 6: 132,780,678 (GRCm39) V272A probably benign Het
Tctn2 C A 5: 124,746,624 (GRCm39) noncoding transcript Het
Tmem51 T C 4: 141,759,089 (GRCm39) N220D probably damaging Het
Trak2 T C 1: 58,947,888 (GRCm39) D584G probably damaging Het
Vmn1r78 A G 7: 11,886,472 (GRCm39) I28V probably benign Het
Vmn2r95 A C 17: 18,672,248 (GRCm39) I662L probably benign Het
Vwa8 C A 14: 79,086,733 (GRCm39) R4S possibly damaging Het
Other mutations in Phb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2405:Phb1 UTSW 11 95,566,094 (GRCm39) missense probably benign 0.01
R2474:Phb1 UTSW 11 95,562,248 (GRCm39) missense possibly damaging 0.60
R4619:Phb1 UTSW 11 95,562,416 (GRCm39) intron probably benign
R6026:Phb1 UTSW 11 95,562,245 (GRCm39) nonsense probably null
R6263:Phb1 UTSW 11 95,568,941 (GRCm39) missense probably damaging 0.99
R7257:Phb1 UTSW 11 95,568,917 (GRCm39) missense probably damaging 0.99
R8485:Phb1 UTSW 11 95,566,055 (GRCm39) missense probably benign 0.15
R9237:Phb1 UTSW 11 95,566,034 (GRCm39) missense possibly damaging 0.84
R9499:Phb1 UTSW 11 95,562,257 (GRCm39) missense probably benign 0.08
R9551:Phb1 UTSW 11 95,562,257 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16