Incidental Mutation 'R8485:Phb1'
ID 657694
Institutional Source Beutler Lab
Gene Symbol Phb1
Ensembl Gene ENSMUSG00000038845
Gene Name prohibitin 1
Synonyms Phb
MMRRC Submission 067928-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8485 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 95557783-95571599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95566055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 113 (D113G)
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: D113G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000047536
Gene: ENSMUSG00000038845
AA Change: D113G

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125172
AA Change: D113G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119603
Gene: ENSMUSG00000038845
AA Change: D113G

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Blast:PHB 198 248 6e-22 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 A G 3: 97,066,302 (GRCm39) probably benign Het
Adamts16 T C 13: 70,886,794 (GRCm39) T999A possibly damaging Het
Adgrb1 A C 15: 74,420,153 (GRCm39) T829P probably damaging Het
Ankrd12 C T 17: 66,290,711 (GRCm39) S1574N probably benign Het
Ankrd2 G A 19: 42,030,384 (GRCm39) probably null Het
Ano3 T A 2: 110,498,200 (GRCm39) probably null Het
Arhgap18 T C 10: 26,722,104 (GRCm39) I25T probably benign Het
Armc3 T C 2: 19,297,945 (GRCm39) F572S probably damaging Het
Aspdh G T 7: 44,117,093 (GRCm39) G165W probably damaging Het
Btnl10 G T 11: 58,811,142 (GRCm39) R155L possibly damaging Het
Cacng7 A G 7: 3,414,541 (GRCm39) E168G probably benign Het
Cadps G A 14: 12,439,872 (GRCm38) T1215M probably damaging Het
Cbfa2t3 C A 8: 123,357,517 (GRCm39) G598C probably damaging Het
Cdh15 T C 8: 123,584,105 (GRCm39) S69P probably damaging Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Dlec1 T G 9: 118,957,659 (GRCm39) V881G probably benign Het
Dnah7c A C 1: 46,719,952 (GRCm39) D2801A probably benign Het
Efhc1 T C 1: 21,030,460 (GRCm39) M131T possibly damaging Het
Ercc2 G A 7: 19,122,165 (GRCm39) V386I possibly damaging Het
Exoc4 T A 6: 33,898,436 (GRCm39) I885N probably damaging Het
Fbxl22 C T 9: 66,421,849 (GRCm39) probably null Het
Flii G T 11: 60,607,063 (GRCm39) A971E probably benign Het
Fnip2 T A 3: 79,388,844 (GRCm39) E599V probably benign Het
Glb1l2 G A 9: 26,679,036 (GRCm39) L453F probably benign Het
Gm49368 C T 7: 127,711,611 (GRCm39) P624L probably damaging Het
Gpa33 T A 1: 165,992,261 (GRCm39) D268E probably benign Het
Gpi1 A T 7: 33,918,677 (GRCm39) probably null Het
Iqgap2 T C 13: 95,796,659 (GRCm39) N1165S probably damaging Het
Irag2 A T 6: 145,117,400 (GRCm39) N379I probably damaging Het
Kctd2 G T 11: 115,320,434 (GRCm39) probably benign Het
L1td1 C T 4: 98,625,911 (GRCm39) A702V probably damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Mycbpap A G 11: 94,402,534 (GRCm39) L267P probably damaging Het
Mycbpap T C 11: 94,405,359 (GRCm39) R57G probably benign Het
Myo1b A C 1: 51,818,760 (GRCm39) L505R probably damaging Het
Nfatc2 A C 2: 168,432,012 (GRCm39) F34V probably damaging Het
Nphs1 A G 7: 30,165,598 (GRCm39) N655S probably damaging Het
Nsd2 A T 5: 34,040,189 (GRCm39) I909F probably damaging Het
Or10ag60 A T 2: 87,438,601 (GRCm39) M290L probably benign Het
Or8b37 T A 9: 37,959,253 (GRCm39) M245K probably benign Het
Pak2 G A 16: 31,871,083 (GRCm39) A33V probably benign Het
Pkhd1 T A 1: 20,593,257 (GRCm39) I1619F probably damaging Het
Pkhd1l1 A G 15: 44,423,796 (GRCm39) I3113V probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Prrc2b T A 2: 32,102,105 (GRCm39) M726K possibly damaging Het
Rai14 A G 15: 10,575,122 (GRCm39) L612P probably damaging Het
Rapgef1 T C 2: 29,600,186 (GRCm39) S598P probably damaging Het
Rdm1 G A 11: 101,518,816 (GRCm39) V8I probably benign Het
Rrbp1 A G 2: 143,796,933 (GRCm39) F1148L probably benign Het
Slc12a2 T C 18: 58,074,218 (GRCm39) probably null Het
Slc7a8 T A 14: 54,962,264 (GRCm39) T457S probably benign Het
Stk32a T A 18: 43,376,075 (GRCm39) M48K possibly damaging Het
Svil T C 18: 5,064,566 (GRCm39) S642P probably benign Het
Taok3 G A 5: 117,389,142 (GRCm39) V516M possibly damaging Het
Ugdh T C 5: 65,584,902 (GRCm39) I7V possibly damaging Het
Zc3h11a T A 1: 133,553,633 (GRCm39) S504C possibly damaging Het
Zfp512 C T 5: 31,637,401 (GRCm39) R497W 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
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
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'- GCTGAGGAACTAGACTCTCTCC -3'
(R):5'- CGGCACACTCATGGCTATAAC -3'

Sequencing Primer
(F):5'- GAGGAACTAGACTCTCTCCTCTAGG -3'
(R):5'- ACTCATGGCTATAACCCTCCTAC -3'
Posted On 2021-01-18