Incidental Mutation 'R2474:Phb1'
ID 253294
Institutional Source Beutler Lab
Gene Symbol Phb1
Ensembl Gene ENSMUSG00000038845
Gene Name prohibitin 1
Synonyms Phb
MMRRC Submission 040405-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2474 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 95557783-95571599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95562248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 42 (F42L)
Ref Sequence ENSEMBL: ENSMUSP00000119603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036374] [ENSMUST00000125172]
AlphaFold P67778
Predicted Effect probably benign
Transcript: ENSMUST00000036374
AA Change: F42L

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047536
Gene: ENSMUSG00000038845
AA Change: F42L

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123071
Predicted Effect possibly damaging
Transcript: ENSMUST00000125172
AA Change: F42L

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119603
Gene: ENSMUSG00000038845
AA Change: F42L

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Blast:PHB 198 248 6e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180389
Meta Mutation Damage Score 0.1997 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,248,361 (GRCm39) T678A probably benign Het
Asb7 A T 7: 66,328,901 (GRCm39) N46K probably damaging Het
Atxn7l2 A C 3: 108,111,293 (GRCm39) S414R probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cxcl13 C T 5: 96,107,816 (GRCm39) Q91* probably null Het
Dchs1 T C 7: 105,404,281 (GRCm39) N2754D probably benign Het
Dchs1 A T 7: 105,422,045 (GRCm39) V125E probably damaging Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
Greb1 T C 12: 16,764,954 (GRCm39) N393S possibly damaging Het
Hfm1 A T 5: 107,020,282 (GRCm39) V1048D possibly damaging Het
Ilvbl T C 10: 78,412,558 (GRCm39) V93A probably damaging Het
Itpkb A G 1: 180,161,716 (GRCm39) D614G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lgi3 G A 14: 70,770,689 (GRCm39) probably null Het
Mpeg1 G A 19: 12,439,613 (GRCm39) C357Y probably damaging Het
Nedd1 A G 10: 92,555,465 (GRCm39) F7L probably damaging Het
Or8g26 A G 9: 39,095,846 (GRCm39) D121G probably damaging Het
Or8k35 C A 2: 86,424,957 (GRCm39) V72F probably benign Het
Parp8 A T 13: 117,029,577 (GRCm39) C510S possibly damaging Het
Pik3r1 A T 13: 101,839,284 (GRCm39) Y189* probably null Het
Rps5 T A 7: 12,660,488 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp3 T A 11: 69,564,923 (GRCm39) N516Y probably damaging Het
Tfap2b A T 1: 19,284,599 (GRCm39) H169L possibly damaging Het
Tmem260 A G 14: 48,733,781 (GRCm39) D226G probably null Het
Ttc6 G T 12: 57,622,713 (GRCm39) R37S probably benign Het
Vmn2r84 A T 10: 130,222,392 (GRCm39) D609E possibly damaging Het
Vmn2r99 A T 17: 19,598,891 (GRCm39) M192L probably benign Het
Zfp746 T C 6: 48,041,703 (GRCm39) D341G probably damaging Het
Zfp941 A T 7: 140,391,384 (GRCm39) H658Q probably damaging Het
Zw10 T A 9: 48,978,105 (GRCm39) I351N probably damaging Het
Other mutations in Phb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02154:Phb1 APN 11 95,565,997 (GRCm39) missense possibly damaging 0.66
R2405:Phb1 UTSW 11 95,566,094 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- CTTAGCTTGAAACCACGCAC -3'
(R):5'- GCACGGTATACCTCCACATC -3'

Sequencing Primer
(F):5'- GGCTCCAGAAAATTGTCTCTAGGC -3'
(R):5'- TCTCCCTTATACAGCCACAGG -3'
Posted On 2014-12-04