Incidental Mutation 'R3034:Pmfbp1'
ID 264785
Institutional Source Beutler Lab
Gene Symbol Pmfbp1
Ensembl Gene ENSMUSG00000031727
Gene Name polyamine modulated factor 1 binding protein 1
Synonyms 1700016D22Rik, F77
MMRRC Submission 040550-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R3034 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110220659-110269272 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 110247553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034162] [ENSMUST00000034162]
AlphaFold Q9WVQ0
Predicted Effect probably null
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 probably null
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
Meta Mutation Damage Score 0.9485 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e T C 11: 70,207,079 (GRCm39) I576V probably benign Het
Apol7a T G 15: 77,273,923 (GRCm39) I180L probably benign Het
Aptx T C 4: 40,694,994 (GRCm39) N114S probably benign Het
Bltp3a T A 17: 28,113,720 (GRCm39) D1297E probably damaging Het
Cd40 T A 2: 164,904,235 (GRCm39) S65R probably benign Het
Cdh23 C T 10: 60,244,789 (GRCm39) probably benign Het
Coro7 G A 16: 4,450,155 (GRCm39) R565W probably damaging Het
Cpt1a C T 19: 3,428,390 (GRCm39) T588M probably damaging Het
Defb23 A G 2: 152,301,189 (GRCm39) S128P possibly damaging Het
Dgki G A 6: 37,064,605 (GRCm39) H250Y probably damaging Het
Fgr T C 4: 132,725,807 (GRCm39) probably null Het
Fkbp15 T C 4: 62,225,129 (GRCm39) probably null Het
Gpr137c C T 14: 45,457,733 (GRCm39) S95L probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Krt1 C A 15: 101,759,068 (GRCm39) R32L unknown Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mbl1 C A 14: 40,880,790 (GRCm39) S226Y probably damaging Het
Mrps28 T A 3: 8,988,675 (GRCm39) D61V probably benign Het
Mthfd1 A G 12: 76,336,244 (GRCm39) K299E probably benign Het
Myo1b A G 1: 51,812,406 (GRCm39) Y738H possibly damaging Het
Myo5c A G 9: 75,193,859 (GRCm39) T1205A probably benign Het
Nfatc2 C T 2: 168,376,940 (GRCm39) G317S probably damaging Het
Nln C T 13: 104,173,947 (GRCm39) V525I possibly damaging Het
Nrap T C 19: 56,352,437 (GRCm39) E549G probably damaging Het
Nwd2 T A 5: 63,957,446 (GRCm39) Y259N probably damaging Het
Oas3 T C 5: 120,909,121 (GRCm39) D275G probably damaging Het
Or14a256 A T 7: 86,264,970 (GRCm39) D294E possibly damaging Het
Ovch2 A G 7: 107,384,699 (GRCm39) S473P probably damaging Het
Pde8b T A 13: 95,359,275 (GRCm39) Y16F probably damaging Het
Pmvk T C 3: 89,375,824 (GRCm39) V74A probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,390,881 (GRCm39) T202S unknown Het
Rheb C T 5: 25,008,721 (GRCm39) E166K probably damaging Het
Rnf5 A G 17: 34,822,332 (GRCm39) V39A possibly damaging Het
Scn7a T C 2: 66,513,152 (GRCm39) Y1168C probably damaging Het
Tas2r114 A G 6: 131,666,611 (GRCm39) I139T probably benign Het
Tma7 T C 9: 108,911,274 (GRCm39) probably benign Het
Tmem181a T A 17: 6,330,901 (GRCm39) S13T possibly damaging Het
Tmem62 C T 2: 120,809,605 (GRCm39) probably benign Het
Trim71 T C 9: 114,341,912 (GRCm39) D790G probably damaging Het
Trp53tg5 T C 2: 164,313,219 (GRCm39) K152R probably benign Het
Zdbf2 C A 1: 63,343,364 (GRCm39) A581E probably 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
IGL03374:Pmfbp1 APN 8 110,269,046 (GRCm39) utr 3 prime probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGACATCCAGAAAGGCTCCA -3'
(R):5'- GAGAAACCCAGAAGCAGTCAAT -3'

Sequencing Primer
(F):5'- AAACCGCTCTGTGTGACTTAGAC -3'
(R):5'- GCAGTCAATCCCCTCAGTCTAATC -3'
Posted On 2015-02-05