Incidental Mutation 'R6823:Pmfbp1'
ID 537737
Institutional Source Beutler Lab
Gene Symbol Pmfbp1
Ensembl Gene ENSMUSG00000031727
Gene Name polyamine modulated factor 1 binding protein 1
Synonyms 1700016D22Rik, F77
MMRRC Submission 044935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6823 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 110220659-110269272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110256939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 548 (S548T)
Ref Sequence ENSEMBL: ENSMUSP00000034162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034162]
AlphaFold Q9WVQ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000034162
AA Change: S548T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: S548T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,626,735 (GRCm39) probably null Het
Adgrv1 A G 13: 81,705,200 (GRCm39) F1537L probably damaging Het
Aggf1 T C 13: 95,501,231 (GRCm39) S384G probably benign Het
Anxa8 A T 14: 33,816,722 (GRCm39) D204V possibly damaging Het
Asap3 A T 4: 135,954,883 (GRCm39) E71V possibly damaging Het
BC024139 T C 15: 76,003,946 (GRCm39) *773W probably null Het
Bckdhb T C 9: 83,835,814 (GRCm39) V106A possibly damaging Het
Cep250 A G 2: 155,823,379 (GRCm39) D1010G probably benign Het
Chrd T A 16: 20,553,486 (GRCm39) L243Q probably damaging Het
Cib2 G T 9: 54,457,175 (GRCm39) L30I possibly damaging Het
Cpsf7 T A 19: 10,510,248 (GRCm39) L113* probably null Het
Cubn T A 2: 13,449,840 (GRCm39) I895L probably benign Het
Cyp24a1 C A 2: 170,329,899 (GRCm39) R351I probably benign Het
Cyp2a12 A T 7: 26,733,581 (GRCm39) D320V possibly damaging Het
Dact1 C G 12: 71,364,713 (GRCm39) P498R probably benign Het
Diaph1 T A 18: 38,009,436 (GRCm39) probably null Het
Dnah7a A T 1: 53,495,863 (GRCm39) I3198N probably benign Het
Dop1b A T 16: 93,552,373 (GRCm39) I271F possibly damaging Het
Elp1 A G 4: 56,787,939 (GRCm39) Y331H probably damaging Het
Erich3 C A 3: 154,433,074 (GRCm39) F349L probably damaging Het
Fam187b G C 7: 30,688,715 (GRCm39) V358L probably benign Het
Fat4 T A 3: 39,038,088 (GRCm39) H3913Q probably benign Het
Fbxw7 G C 3: 84,865,934 (GRCm39) E118D probably benign Het
Fgf1 A G 18: 38,980,161 (GRCm39) I71T probably damaging Het
Fryl A T 5: 73,222,560 (GRCm39) I2007K probably damaging Het
Galnt2 C G 8: 125,050,750 (GRCm39) P130A probably benign Het
H1f10 G A 6: 87,958,284 (GRCm39) R19C probably damaging Het
Hmga2 A C 10: 120,311,929 (GRCm39) S14A possibly damaging Het
Hoxb4 C T 11: 96,209,480 (GRCm39) probably benign Het
Hr A T 14: 70,802,814 (GRCm39) I756F probably damaging Het
Hspa1b A T 17: 35,177,161 (GRCm39) S275T probably benign Het
Kcnh1 T C 1: 192,187,597 (GRCm39) *99R probably null Het
Kit C A 5: 75,813,309 (GRCm39) L864I probably benign Het
Klk14 A T 7: 43,343,880 (GRCm39) K196* probably null Het
Lmod1 A G 1: 135,252,905 (GRCm39) N53S probably damaging Het
Myh13 T C 11: 67,246,984 (GRCm39) M1235T probably benign Het
Neurl3 T A 1: 36,307,785 (GRCm39) K175* probably null Het
Nlgn2 T A 11: 69,716,750 (GRCm39) K597M probably damaging Het
Npdc1 T C 2: 25,299,121 (GRCm39) M306T probably damaging Het
Obscn C T 11: 58,958,769 (GRCm39) probably null Het
Or1p1b T C 11: 74,130,522 (GRCm39) L44P probably damaging Het
Or52m2 G A 7: 102,263,693 (GRCm39) L168F probably damaging Het
Or8b49 T C 9: 38,506,201 (GRCm39) I228T possibly damaging Het
Pbrm1 A T 14: 30,806,747 (GRCm39) Y1042F probably damaging Het
Pclo T A 5: 14,727,921 (GRCm39) probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Phf12 C T 11: 77,913,337 (GRCm39) Q430* probably null Het
Plaat5 A T 19: 7,616,861 (GRCm39) probably benign Het
Pld3 C T 7: 27,235,322 (GRCm39) R302H probably damaging Het
Plekha5 T C 6: 140,471,584 (GRCm39) S112P probably benign Het
Ppa1 A T 10: 61,503,382 (GRCm39) I220F probably damaging Het
Ppp2r3d A G 9: 124,439,078 (GRCm38) probably benign Het
Psmg2 A T 18: 67,781,927 (GRCm39) E164D possibly damaging Het
Rarb T C 14: 16,443,824 (GRCm38) R155G probably damaging Het
Rnf215 T C 11: 4,086,609 (GRCm39) L162S probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtkn2 G A 10: 67,862,462 (GRCm39) V330M probably damaging Het
Slc16a4 A T 3: 107,218,814 (GRCm39) I472F probably benign Het
Snx14 T C 9: 88,276,435 (GRCm39) N617D possibly damaging Het
Spire2 T C 8: 124,083,466 (GRCm39) V150A probably damaging Het
Sptbn1 C A 11: 30,064,787 (GRCm39) R1904M probably damaging Het
Swap70 A G 7: 109,880,510 (GRCm39) E575G possibly damaging Het
Tbxas1 A T 6: 38,896,087 (GRCm39) M1L possibly damaging Het
Tenm3 A T 8: 48,709,872 (GRCm39) V1688D probably damaging Het
Tgfbr3 A T 5: 107,297,780 (GRCm39) S207T probably damaging Het
Timm44 A G 8: 4,317,282 (GRCm39) F248L probably damaging Het
Tmem161a T C 8: 70,633,849 (GRCm39) L170P probably damaging Het
Tmem63a A T 1: 180,788,035 (GRCm39) Y263F possibly damaging Het
Tnfsf9 C A 17: 57,412,513 (GRCm39) L28I probably benign Het
Tph2 T A 10: 115,010,011 (GRCm39) N183I probably benign Het
Ttyh1 T C 7: 4,125,528 (GRCm39) I60T probably damaging Het
Ubn1 T G 16: 4,882,411 (GRCm39) S48A probably damaging Het
Ubr5 T C 15: 37,989,842 (GRCm39) N2019S probably benign Het
Wbp2 T C 11: 115,977,736 (GRCm39) N6D probably benign Het
Wdr59 T A 8: 112,185,672 (GRCm39) E810V possibly damaging Het
Wiz T C 17: 32,579,395 (GRCm39) D220G probably damaging Het
Yipf7 A G 5: 69,674,413 (GRCm39) L244P probably damaging Het
Zdhhc17 T C 10: 110,790,972 (GRCm39) T366A possibly damaging Het
Zfp169 A T 13: 48,644,472 (GRCm39) probably benign Het
Zfp707 C T 15: 75,841,572 (GRCm39) probably benign Het
Zfp788 A G 7: 41,298,984 (GRCm39) H540R 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
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
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'- TGACCAAGCATTCGATGGC -3'
(R):5'- CTCCTGTAACCGTTGCCTACAG -3'

Sequencing Primer
(F):5'- AAGCATTCGATGGCGCTCC -3'
(R):5'- TACAGCAAGGTGGTCCCG -3'
Posted On 2018-10-18