Incidental Mutation 'R5828:Pmf1'
ID 450249
Institutional Source Beutler Lab
Gene Symbol Pmf1
Ensembl Gene ENSMUSG00000028066
Gene Name polyamine-modulated factor 1
Synonyms 2600009M07Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R5828 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88301450-88317638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88303294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 89 (E89G)
Ref Sequence ENSEMBL: ENSMUSP00000141696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056370] [ENSMUST00000192909] [ENSMUST00000193338]
AlphaFold Q9CPV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000056370
AA Change: E158G

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062420
Gene: ENSMUSG00000028066
AA Change: E158G

DomainStartEndE-ValueType
Pfam:Nnf1 68 168 2.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192365
Predicted Effect probably benign
Transcript: ENSMUST00000192909
Predicted Effect possibly damaging
Transcript: ENSMUST00000193338
AA Change: E89G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141696
Gene: ENSMUSG00000028066
AA Change: E89G

DomainStartEndE-ValueType
Pfam:Nnf1 5 100 4.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198774
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,432,144 (GRCm39) D95G unknown Het
Arl10 T A 13: 54,726,768 (GRCm39) V182E probably damaging Het
Cacna1g T G 11: 94,347,980 (GRCm39) S703R probably damaging Het
Ces2a C A 8: 105,465,956 (GRCm39) T363N probably benign Het
Col14a1 G A 15: 55,300,372 (GRCm39) V967I unknown Het
Col22a1 A T 15: 71,881,340 (GRCm39) F4I probably benign Het
D630045J12Rik A G 6: 38,173,302 (GRCm39) W289R possibly damaging Het
Disc1 A G 8: 125,977,763 (GRCm39) Q793R probably damaging Het
Dnhd1 C T 7: 105,369,388 (GRCm39) T4337I probably benign Het
Eif2b5 T A 16: 20,321,536 (GRCm39) V363D possibly damaging Het
Emsy T C 7: 98,242,699 (GRCm39) T1147A probably benign Het
Epg5 T A 18: 78,064,066 (GRCm39) Y2048N probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxred1 A G 9: 35,121,492 (GRCm39) probably benign Het
Gpaa1 T C 15: 76,216,471 (GRCm39) probably benign Het
Gria4 A C 9: 4,432,832 (GRCm39) L784V probably damaging Het
Homer3 A G 8: 70,738,956 (GRCm39) Y105C probably benign Het
Hpgd T C 8: 56,772,106 (GRCm39) S193P probably benign Het
Irf1 T A 11: 53,666,762 (GRCm39) W247R probably benign Het
Lpgat1 A G 1: 191,508,494 (GRCm39) Q344R possibly damaging Het
Luzp1 T C 4: 136,267,993 (GRCm39) V72A probably damaging Het
Malrd1 G A 2: 15,531,464 (GRCm39) V8M probably benign Het
Msmo1 T C 8: 65,172,144 (GRCm39) H253R probably damaging Het
Nom1 A G 5: 29,640,124 (GRCm39) K150R possibly damaging Het
Onecut1 A G 9: 74,770,042 (GRCm39) E155G probably benign Het
Or12k7 A G 2: 36,959,001 (GRCm39) H228R probably benign Het
Or14c46 T A 7: 85,918,728 (GRCm39) M90L probably benign Het
Or5p59 T C 7: 107,703,005 (GRCm39) V163A possibly damaging Het
Osbpl10 G A 9: 114,890,944 (GRCm39) V111M probably damaging Het
Pcdhgb6 T C 18: 37,877,457 (GRCm39) S722P probably benign Het
Plin4 T A 17: 56,414,064 (GRCm39) D187V probably damaging Het
Polr1d A T 5: 147,014,408 (GRCm39) probably benign Het
Ppp1r9a T C 6: 5,158,200 (GRCm39) Y1006H probably damaging Het
Ppp2r5c A G 12: 110,537,134 (GRCm39) K420E probably benign Het
Prdx1 T C 4: 116,551,006 (GRCm39) L159P probably damaging Het
Psmd6 G T 14: 14,119,990 (GRCm38) D39E probably benign Het
Rffl T C 11: 82,709,244 (GRCm39) K60E probably damaging Het
Rspo2 A T 15: 42,939,283 (GRCm39) L169Q probably damaging Het
Sbf1 T A 15: 89,172,837 (GRCm39) D1892V probably damaging Het
Sbno2 G A 10: 79,902,424 (GRCm39) S475F possibly damaging Het
Serpina3i T A 12: 104,231,474 (GRCm39) V37E probably benign Het
Siglecf G A 7: 43,001,137 (GRCm39) C35Y probably damaging Het
Slc22a27 G T 19: 7,903,767 (GRCm39) D123E probably damaging Het
Smim23 T A 11: 32,770,592 (GRCm39) K105* probably null Het
Soat1 C T 1: 156,265,318 (GRCm39) S348N probably benign Het
Sp2 C T 11: 96,851,811 (GRCm39) probably benign Het
St14 T A 9: 31,002,803 (GRCm39) H700L probably damaging Het
St3gal1 T A 15: 66,985,634 (GRCm39) K7* probably null Het
Tgm1 T C 14: 55,943,011 (GRCm39) K610E probably benign Het
Tob1 T A 11: 94,104,583 (GRCm39) Y40N probably damaging Het
Tob1 T A 11: 94,104,585 (GRCm39) Y40* probably null Het
Trpc4ap A G 2: 155,477,130 (GRCm39) probably benign Het
Ttc9 C T 12: 81,678,450 (GRCm39) P91L probably benign Het
Zbtb18 T C 1: 177,275,446 (GRCm39) S269P probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 A T 13: 92,650,410 (GRCm39) V858E probably damaging Het
Other mutations in Pmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0927:Pmf1 UTSW 3 88,303,369 (GRCm39) missense probably damaging 0.97
R6041:Pmf1 UTSW 3 88,303,358 (GRCm39) missense probably damaging 1.00
R6302:Pmf1 UTSW 3 88,307,017 (GRCm39) critical splice donor site probably null
R6937:Pmf1 UTSW 3 88,306,496 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCACAGGTACCAGCAAAGGTG -3'
(R):5'- ATTGGTTGAGAGAAGTCCCCTG -3'

Sequencing Primer
(F):5'- CAAAGGTGCCGAGTGACTCTG -3'
(R):5'- AGAGAAGTCCCCTGTGTGCTC -3'
Posted On 2016-12-20