Incidental Mutation 'IGL02154:Phb'
ID282169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phb
Ensembl Gene ENSMUSG00000038845
Gene Nameprohibitin
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02154
Quality Score
Status
Chromosome11
Chromosomal Location95666957-95680773 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95675171 bp
ZygosityHeterozygous
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]
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
3632451O06Rik G A 14: 49,772,942 T436I possibly damaging Het
Armc3 G A 2: 19,286,137 probably null Het
AW551984 G A 9: 39,589,102 R787C possibly damaging Het
Cadm1 A T 9: 47,813,903 I321L probably benign Het
Cfap57 A G 4: 118,613,017 L222P probably damaging Het
Cox20 A G 1: 178,322,554 I98V probably benign Het
Dmrta1 A G 4: 89,691,913 N370S probably benign Het
Dnah17 A G 11: 118,124,261 F386L probably benign Het
Fam135b T C 15: 71,448,710 I1323V probably benign Het
Fndc3b A G 3: 27,538,117 S211P probably damaging Het
Galnt10 T G 11: 57,784,705 L597V probably damaging Het
Gtf2e2 T C 8: 33,755,961 probably null Het
Inpp4b T A 8: 81,969,501 probably benign Het
Lacc1 A G 14: 77,033,287 V269A probably benign Het
Lrmp T G 6: 145,138,241 M44R possibly damaging Het
Mdn1 A G 4: 32,740,395 D3750G probably benign Het
Mme A T 3: 63,343,555 Q339L probably benign Het
Mmp3 A T 9: 7,453,662 I428L probably benign Het
Myrf A T 19: 10,216,118 I558N probably damaging Het
Olfr671 C T 7: 104,975,981 M1I probably null Het
Prg4 T A 1: 150,454,862 probably benign Het
Sirpb1a T C 3: 15,410,444 T344A probably damaging Het
Skap2 T C 6: 52,012,328 probably benign Het
Slc29a1 A G 17: 45,586,163 I399T probably damaging Het
Sorl1 C T 9: 42,004,034 V1300I probably benign Het
Tas2r117 T C 6: 132,803,715 V272A probably benign Het
Tctn2 C A 5: 124,608,561 noncoding transcript Het
Tmem51 T C 4: 142,031,778 N220D probably damaging Het
Trak2 T C 1: 58,908,729 D584G probably damaging Het
Vmn1r78 A G 7: 12,152,545 I28V probably benign Het
Vmn2r95 A C 17: 18,451,986 I662L probably benign Het
Vwa8 C A 14: 78,849,293 R4S possibly damaging Het
Other mutations in Phb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2405:Phb UTSW 11 95675268 missense probably benign 0.01
R2474:Phb UTSW 11 95671422 missense possibly damaging 0.60
R4619:Phb UTSW 11 95671590 intron probably benign
R6026:Phb UTSW 11 95671419 nonsense probably null
R6263:Phb UTSW 11 95678115 missense probably damaging 0.99
R7257:Phb UTSW 11 95678091 missense probably damaging 0.99
Posted On2015-04-16