Incidental Mutation 'R9551:Phb1'
ID 720503
Institutional Source Beutler Lab
Gene Symbol Phb1
Ensembl Gene ENSMUSG00000038845
Gene Name prohibitin 1
Synonyms Phb
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9551 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 95557783-95571599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95562257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 45 (V45I)
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: V45I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000047536
Gene: ENSMUSG00000038845
AA Change: V45I

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125172
AA Change: V45I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119603
Gene: ENSMUSG00000038845
AA Change: V45I

DomainStartEndE-ValueType
PHB 26 187 3.94e-49 SMART
Blast:PHB 198 248 6e-22 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Birc6 T A 17: 74,916,064 (GRCm39) L1660Q probably benign Het
Blvrb A G 7: 27,158,786 (GRCm39) D62G probably benign Het
Ccdc68 T A 18: 70,089,113 (GRCm39) S219T probably damaging Het
Cep120 C A 18: 53,819,033 (GRCm39) R886L possibly damaging Het
Cep290 T C 10: 100,372,729 (GRCm39) S1176P probably damaging Het
Cnbp A G 6: 87,822,108 (GRCm39) Y139H probably damaging Het
Csmd3 T A 15: 48,655,356 (GRCm39) probably benign Het
Cyp2c66 T C 19: 39,172,246 (GRCm39) V387A probably damaging Het
Dab2ip T A 2: 35,605,330 (GRCm39) C504S possibly damaging Het
Depdc7 C T 2: 104,553,220 (GRCm39) probably null Het
Edrf1 A G 7: 133,240,742 (GRCm39) D73G probably damaging Het
Elp3 T C 14: 65,797,634 (GRCm39) I365V probably benign Het
Erbb4 G A 1: 68,779,642 (GRCm39) Q45* probably null Het
Fam124a T G 14: 62,843,988 (GRCm39) S499A possibly damaging Het
Has2 T C 15: 56,531,090 (GRCm39) K542E probably benign Het
Hnrnpk A G 13: 58,544,058 (GRCm39) S116P probably benign Het
Hs3st6 T C 17: 24,977,228 (GRCm39) L236P probably damaging Het
Il15 T A 8: 83,061,177 (GRCm39) H100L probably benign Het
Kif14 C A 1: 136,455,219 (GRCm39) S1630R probably damaging Het
Madd T C 2: 91,000,434 (GRCm39) T544A probably damaging Het
Mamdc4 T C 2: 25,460,035 (GRCm39) D76G probably damaging Het
Mark2 G T 19: 7,263,263 (GRCm39) T201N possibly damaging Het
Mfsd9 T C 1: 40,813,152 (GRCm39) T388A probably damaging Het
Mgst3 T C 1: 167,205,871 (GRCm39) Y36C probably damaging Het
Myh11 T A 16: 14,064,673 (GRCm39) E215V Het
Nmd3 T C 3: 69,647,329 (GRCm39) V277A possibly damaging Het
Or11g1 C T 14: 50,651,625 (GRCm39) S208F probably benign Het
Or2y14 C T 11: 49,404,942 (GRCm39) T159I probably damaging Het
Or6k4 A T 1: 173,964,885 (GRCm39) T192S probably benign Het
Pbx1 T C 1: 168,258,910 (GRCm39) D55G possibly damaging Het
Pdzrn3 T C 6: 101,127,855 (GRCm39) D937G probably damaging Het
Pi4ka T C 16: 17,125,574 (GRCm39) E1187G Het
Piezo2 T C 18: 63,166,033 (GRCm39) E2066G possibly damaging Het
Pkn2 T C 3: 142,499,594 (GRCm39) D977G probably damaging Het
Polr1b C T 2: 128,957,684 (GRCm39) R580* probably null Het
Pyroxd2 A G 19: 42,719,756 (GRCm39) probably null Het
Rpain T C 11: 70,865,816 (GRCm39) S194P probably damaging Het
Scaf1 A G 7: 44,658,351 (GRCm39) L176P probably damaging Het
Scgb1b12 C A 7: 32,033,974 (GRCm39) A78E probably benign Het
Scgb2b19 A G 7: 32,979,198 (GRCm39) F28S probably damaging Het
Setx T C 2: 29,020,244 (GRCm39) M77T possibly damaging Het
Skint5 C T 4: 113,798,052 (GRCm39) C177Y possibly damaging Het
Slco6c1 T C 1: 97,055,827 (GRCm39) S25G probably benign Het
Sorbs1 G A 19: 40,361,923 (GRCm39) R154* probably null Het
Ssb T A 2: 69,696,982 (GRCm39) D107E probably benign Het
Tcerg1l T C 7: 137,995,998 (GRCm39) D170G possibly damaging Het
Tle5 T C 10: 81,399,988 (GRCm39) V62A probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmco4 G A 4: 138,779,895 (GRCm39) V447M probably damaging Het
Trf C T 9: 103,099,283 (GRCm39) V339I probably benign Het
Ucp1 T C 8: 84,024,509 (GRCm39) L278P probably damaging Het
Vmn1r82 A G 7: 12,039,600 (GRCm39) N291S possibly damaging Het
Vmn1r86 A T 7: 12,836,781 (GRCm39) Y32N possibly damaging Het
Wnt10b C A 15: 98,670,713 (GRCm39) G272W probably damaging Het
Xpo4 A G 14: 57,828,512 (GRCm39) F783L possibly damaging Het
Yipf4 T C 17: 74,806,024 (GRCm39) F221S probably damaging Het
Zfp1005 C A 2: 150,109,856 (GRCm39) T182K unknown Het
Zfp512 G A 5: 31,623,676 (GRCm39) C14Y probably benign Het
Zfp595 A T 13: 67,465,067 (GRCm39) S402T probably damaging Het
Zfp658 G T 7: 43,222,567 (GRCm39) V281F probably benign Het
Zfp827 T G 8: 79,787,403 (GRCm39) W190G probably damaging Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AAATTGTCTCTAGGCGTCCAC -3'
(R):5'- ACGACAGCACGGTATACCTC -3'

Sequencing Primer
(F):5'- GTGATCTCCACATGAGTGTCACG -3'
(R):5'- GCACGGTATACCTCCACATCTC -3'
Posted On 2022-08-09