Incidental Mutation 'IGL03374:Pmfbp1'
ID 420433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmfbp1
Ensembl Gene ENSMUSG00000031727
Gene Name polyamine modulated factor 1 binding protein 1
Synonyms 1700016D22Rik, F77
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL03374
Quality Score
Status
Chromosome 8
Chromosomal Location 110220659-110269272 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 110269046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034162]
AlphaFold Q9WVQ0
Predicted Effect probably benign
Transcript: ENSMUST00000034162
SMART Domains Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
internal_repeat_1 38 84 9.43e-6 PROSPERO
coiled coil region 89 121 N/A INTRINSIC
internal_repeat_1 138 178 9.43e-6 PROSPERO
coiled coil region 197 223 N/A INTRINSIC
coiled coil region 334 377 N/A INTRINSIC
low complexity region 392 403 N/A INTRINSIC
coiled coil region 411 732 N/A INTRINSIC
coiled coil region 758 879 N/A INTRINSIC
coiled coil region 931 968 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212003
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Gcnt3 A T 9: 69,941,695 (GRCm39) M291K possibly damaging Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hpd T C 5: 123,310,108 (GRCm39) E372G probably damaging Het
Hsd17b13 A G 5: 104,124,964 (GRCm39) probably benign Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Or9g4b T C 2: 85,616,053 (GRCm39) L66P probably damaging Het
Phyhipl A G 10: 70,401,109 (GRCm39) V163A possibly damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Stard5 T C 7: 83,285,980 (GRCm39) S102P possibly damaging Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Ube2d3 A G 3: 135,165,844 (GRCm39) probably null Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly damaging Het
Other mutations in Pmfbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Pmfbp1 APN 8 110,264,625 (GRCm39) missense possibly damaging 0.75
IGL01505:Pmfbp1 APN 8 110,240,543 (GRCm39) missense probably damaging 1.00
IGL01609:Pmfbp1 APN 8 110,254,348 (GRCm39) missense probably benign 0.12
IGL02066:Pmfbp1 APN 8 110,268,365 (GRCm39) missense possibly damaging 0.76
IGL02926:Pmfbp1 APN 8 110,246,881 (GRCm39) missense probably damaging 1.00
R0022:Pmfbp1 UTSW 8 110,252,039 (GRCm39) missense probably damaging 1.00
R0022:Pmfbp1 UTSW 8 110,252,039 (GRCm39) missense probably damaging 1.00
R0046:Pmfbp1 UTSW 8 110,262,617 (GRCm39) splice site probably benign
R0068:Pmfbp1 UTSW 8 110,269,011 (GRCm39) splice site probably benign
R0211:Pmfbp1 UTSW 8 110,268,372 (GRCm39) missense probably benign 0.03
R0244:Pmfbp1 UTSW 8 110,268,305 (GRCm39) missense probably damaging 1.00
R0468:Pmfbp1 UTSW 8 110,240,600 (GRCm39) splice site probably null
R0479:Pmfbp1 UTSW 8 110,257,105 (GRCm39) splice site probably benign
R1124:Pmfbp1 UTSW 8 110,257,115 (GRCm39) critical splice acceptor site probably null
R1332:Pmfbp1 UTSW 8 110,256,898 (GRCm39) missense probably damaging 1.00
R1336:Pmfbp1 UTSW 8 110,256,898 (GRCm39) missense probably damaging 1.00
R1621:Pmfbp1 UTSW 8 110,226,170 (GRCm39) missense probably benign 0.04
R1961:Pmfbp1 UTSW 8 110,256,776 (GRCm39) splice site probably benign
R2069:Pmfbp1 UTSW 8 110,258,735 (GRCm39) missense possibly damaging 0.68
R2125:Pmfbp1 UTSW 8 110,246,905 (GRCm39) missense probably damaging 1.00
R2889:Pmfbp1 UTSW 8 110,252,063 (GRCm39) missense probably damaging 0.99
R3034:Pmfbp1 UTSW 8 110,247,553 (GRCm39) critical splice acceptor site probably null
R3956:Pmfbp1 UTSW 8 110,256,801 (GRCm39) missense probably benign 0.25
R4085:Pmfbp1 UTSW 8 110,221,579 (GRCm39) missense possibly damaging 0.92
R4191:Pmfbp1 UTSW 8 110,254,260 (GRCm39) missense probably benign 0.00
R4410:Pmfbp1 UTSW 8 110,258,695 (GRCm39) missense probably benign 0.07
R4418:Pmfbp1 UTSW 8 110,257,265 (GRCm39) missense probably benign 0.36
R4888:Pmfbp1 UTSW 8 110,258,792 (GRCm39) missense probably damaging 1.00
R4937:Pmfbp1 UTSW 8 110,262,498 (GRCm39) missense probably benign
R5070:Pmfbp1 UTSW 8 110,256,787 (GRCm39) missense probably damaging 0.99
R5184:Pmfbp1 UTSW 8 110,254,399 (GRCm39) missense possibly damaging 0.92
R5552:Pmfbp1 UTSW 8 110,258,383 (GRCm39) missense probably damaging 0.98
R5609:Pmfbp1 UTSW 8 110,251,739 (GRCm39) missense probably damaging 1.00
R5760:Pmfbp1 UTSW 8 110,247,655 (GRCm39) missense probably damaging 0.99
R5818:Pmfbp1 UTSW 8 110,265,311 (GRCm39) splice site probably null
R6378:Pmfbp1 UTSW 8 110,256,898 (GRCm39) missense probably damaging 0.99
R6496:Pmfbp1 UTSW 8 110,258,789 (GRCm39) missense probably null 0.04
R6550:Pmfbp1 UTSW 8 110,246,839 (GRCm39) missense possibly damaging 0.90
R6565:Pmfbp1 UTSW 8 110,252,060 (GRCm39) nonsense probably null
R6624:Pmfbp1 UTSW 8 110,256,822 (GRCm39) missense possibly damaging 0.92
R6684:Pmfbp1 UTSW 8 110,262,462 (GRCm39) missense probably benign 0.10
R6823:Pmfbp1 UTSW 8 110,256,939 (GRCm39) missense possibly damaging 0.92
R6833:Pmfbp1 UTSW 8 110,265,307 (GRCm39) critical splice donor site probably null
R6940:Pmfbp1 UTSW 8 110,251,823 (GRCm39) missense probably damaging 0.98
R7000:Pmfbp1 UTSW 8 110,257,221 (GRCm39) missense possibly damaging 0.92
R7411:Pmfbp1 UTSW 8 110,240,503 (GRCm39) missense probably damaging 1.00
R7563:Pmfbp1 UTSW 8 110,252,006 (GRCm39) missense possibly damaging 0.83
R7782:Pmfbp1 UTSW 8 110,254,412 (GRCm39) missense probably damaging 0.96
R8115:Pmfbp1 UTSW 8 110,263,669 (GRCm39) missense probably damaging 1.00
R8712:Pmfbp1 UTSW 8 110,265,309 (GRCm39) splice site probably benign
R8954:Pmfbp1 UTSW 8 110,258,433 (GRCm39) missense probably benign 0.00
R9054:Pmfbp1 UTSW 8 110,247,661 (GRCm39) missense possibly damaging 0.84
R9067:Pmfbp1 UTSW 8 110,263,244 (GRCm39) missense possibly damaging 0.87
R9211:Pmfbp1 UTSW 8 110,262,445 (GRCm39) missense probably benign 0.04
R9237:Pmfbp1 UTSW 8 110,246,932 (GRCm39) missense probably damaging 1.00
R9275:Pmfbp1 UTSW 8 110,262,471 (GRCm39) missense probably benign 0.03
R9293:Pmfbp1 UTSW 8 110,263,205 (GRCm39) missense probably benign 0.38
R9302:Pmfbp1 UTSW 8 110,268,474 (GRCm39) missense probably damaging 1.00
R9539:Pmfbp1 UTSW 8 110,240,537 (GRCm39) missense probably damaging 1.00
X0065:Pmfbp1 UTSW 8 110,262,499 (GRCm39) missense probably benign 0.25
Z1088:Pmfbp1 UTSW 8 110,240,576 (GRCm39) missense probably damaging 1.00
Z1176:Pmfbp1 UTSW 8 110,258,383 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02