Incidental Mutation 'R0632:Pum1'
ID 59696
Institutional Source Beutler Lab
Gene Symbol Pum1
Ensembl Gene ENSMUSG00000028580
Gene Name pumilio RNA-binding family member 1
Synonyms Pumm
MMRRC Submission 038821-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.869) question?
Stock # R0632 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130663321-130781564 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130728104 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 180 (M180K)
Ref Sequence ENSEMBL: ENSMUSP00000101613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030315] [ENSMUST00000097862] [ENSMUST00000097864] [ENSMUST00000105991] [ENSMUST00000105992] [ENSMUST00000143277]
AlphaFold Q80U78
Predicted Effect probably benign
Transcript: ENSMUST00000030315
AA Change: M276K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: M276K

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
low complexity region 94 102 N/A INTRINSIC
low complexity region 393 414 N/A INTRINSIC
low complexity region 443 458 N/A INTRINSIC
low complexity region 476 503 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
low complexity region 584 615 N/A INTRINSIC
low complexity region 627 637 N/A INTRINSIC
low complexity region 643 666 N/A INTRINSIC
low complexity region 672 696 N/A INTRINSIC
low complexity region 731 741 N/A INTRINSIC
low complexity region 763 783 N/A INTRINSIC
low complexity region 798 816 N/A INTRINSIC
Pumilio 849 884 1.75e-6 SMART
Pumilio 885 920 4.03e-6 SMART
Pumilio 921 955 5.24e-5 SMART
Pumilio 959 994 3.37e-8 SMART
Pumilio 995 1030 6.29e-8 SMART
Pumilio 1031 1066 1.04e-8 SMART
Pumilio 1067 1102 6.2e-7 SMART
Pumilio 1110 1145 8.77e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097862
AA Change: M276K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: M276K

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
low complexity region 94 102 N/A INTRINSIC
low complexity region 393 414 N/A INTRINSIC
low complexity region 442 457 N/A INTRINSIC
low complexity region 475 502 N/A INTRINSIC
low complexity region 527 538 N/A INTRINSIC
low complexity region 583 614 N/A INTRINSIC
low complexity region 626 636 N/A INTRINSIC
low complexity region 642 665 N/A INTRINSIC
low complexity region 671 695 N/A INTRINSIC
low complexity region 730 740 N/A INTRINSIC
low complexity region 762 782 N/A INTRINSIC
low complexity region 797 815 N/A INTRINSIC
Pumilio 848 883 1.75e-6 SMART
Pumilio 884 919 4.03e-6 SMART
Pumilio 920 954 5.24e-5 SMART
Pumilio 958 993 3.37e-8 SMART
Pumilio 994 1029 6.29e-8 SMART
Pumilio 1030 1065 1.04e-8 SMART
Pumilio 1066 1101 6.2e-7 SMART
Pumilio 1109 1144 8.77e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097864
AA Change: M276K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: M276K

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
low complexity region 94 102 N/A INTRINSIC
low complexity region 393 414 N/A INTRINSIC
low complexity region 442 457 N/A INTRINSIC
low complexity region 475 502 N/A INTRINSIC
low complexity region 527 538 N/A INTRINSIC
low complexity region 583 614 N/A INTRINSIC
low complexity region 626 636 N/A INTRINSIC
low complexity region 642 665 N/A INTRINSIC
low complexity region 671 695 N/A INTRINSIC
low complexity region 730 740 N/A INTRINSIC
low complexity region 762 782 N/A INTRINSIC
low complexity region 797 815 N/A INTRINSIC
Pumilio 848 883 1.75e-6 SMART
Pumilio 884 919 4.03e-6 SMART
Pumilio 920 955 5.48e-8 SMART
Pumilio 956 991 3.37e-8 SMART
Pumilio 992 1027 6.29e-8 SMART
Pumilio 1028 1063 1.04e-8 SMART
Pumilio 1064 1099 6.2e-7 SMART
Pumilio 1107 1142 8.77e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105991
SMART Domains Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
low complexity region 94 102 N/A INTRINSIC
low complexity region 151 172 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
low complexity region 233 260 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
low complexity region 341 372 N/A INTRINSIC
low complexity region 384 394 N/A INTRINSIC
low complexity region 400 423 N/A INTRINSIC
low complexity region 429 453 N/A INTRINSIC
low complexity region 488 498 N/A INTRINSIC
low complexity region 520 540 N/A INTRINSIC
low complexity region 555 573 N/A INTRINSIC
Pumilio 606 641 1.75e-6 SMART
Pumilio 642 677 4.03e-6 SMART
Pumilio 678 713 5.48e-8 SMART
Pumilio 714 749 3.37e-8 SMART
Pumilio 750 785 6.29e-8 SMART
Pumilio 786 821 1.04e-8 SMART
Pumilio 822 857 6.2e-7 SMART
Pumilio 865 900 8.77e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105992
AA Change: M180K

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: M180K

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
low complexity region 94 102 N/A INTRINSIC
low complexity region 297 318 N/A INTRINSIC
low complexity region 346 361 N/A INTRINSIC
low complexity region 379 406 N/A INTRINSIC
low complexity region 431 442 N/A INTRINSIC
low complexity region 487 518 N/A INTRINSIC
low complexity region 530 540 N/A INTRINSIC
low complexity region 546 569 N/A INTRINSIC
low complexity region 575 599 N/A INTRINSIC
low complexity region 634 644 N/A INTRINSIC
low complexity region 666 686 N/A INTRINSIC
low complexity region 701 719 N/A INTRINSIC
Pumilio 752 787 1.75e-6 SMART
Pumilio 788 823 4.03e-6 SMART
Pumilio 824 858 5.24e-5 SMART
Pumilio 862 897 3.37e-8 SMART
Pumilio 898 933 6.29e-8 SMART
Pumilio 934 969 1.04e-8 SMART
Pumilio 970 1005 6.2e-7 SMART
Pumilio 1013 1048 8.77e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143277
SMART Domains Protein: ENSMUSP00000114629
Gene: ENSMUSG00000028580

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
low complexity region 94 102 N/A INTRINSIC
low complexity region 151 172 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 95% (81/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased testes weight and size, decreased body weight, oligozoospermia, reduced male fertility, increased male germ cell apoptosis and small seminiferous tubules. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,227,618 (GRCm38) D83G probably benign Het
Acaa1a T A 9: 119,347,818 (GRCm38) probably benign Het
Adgrg7 T A 16: 56,742,589 (GRCm38) T462S possibly damaging Het
Akap6 A T 12: 52,937,148 (GRCm38) N825I probably damaging Het
Ankib1 T A 5: 3,772,529 (GRCm38) N59I probably benign Het
Anks6 T C 4: 47,033,167 (GRCm38) S633G possibly damaging Het
Ap4e1 C A 2: 127,049,280 (GRCm38) Y522* probably null Het
Art5 G A 7: 102,097,957 (GRCm38) T205I probably damaging Het
Ascc2 T A 11: 4,649,855 (GRCm38) L176H probably damaging Het
Atp13a5 T C 16: 29,298,208 (GRCm38) D529G probably benign Het
C2cd4a T C 9: 67,831,563 (GRCm38) E66G probably benign Het
C8a T C 4: 104,856,492 (GRCm38) D147G probably damaging Het
Ccdc14 T C 16: 34,721,649 (GRCm38) V532A possibly damaging Het
Ccdc88a T A 11: 29,482,749 (GRCm38) probably benign Het
Cfap54 C T 10: 92,885,096 (GRCm38) E2543K unknown Het
Cldn13 C T 5: 134,914,747 (GRCm38) E195K probably benign Het
Cp A G 3: 19,971,082 (GRCm38) S402G probably null Het
Cpa3 T C 3: 20,225,194 (GRCm38) T194A probably benign Het
Crygf C A 1: 65,927,997 (GRCm38) Y93* probably null Het
Ctsh A G 9: 90,061,582 (GRCm38) R87G possibly damaging Het
Cyp2t4 A G 7: 27,158,246 (GRCm38) D428G possibly damaging Het
Dnah17 C G 11: 118,067,682 (GRCm38) probably benign Het
Dnah3 A G 7: 119,967,905 (GRCm38) V2366A probably benign Het
Dscaml1 A T 9: 45,732,134 (GRCm38) I1284F probably benign Het
Dsg1c T C 18: 20,272,346 (GRCm38) probably benign Het
Dst G T 1: 34,271,413 (GRCm38) R4098L probably damaging Het
Efhb A G 17: 53,413,459 (GRCm38) probably benign Het
Epha7 A T 4: 28,821,104 (GRCm38) I90F probably damaging Het
Fam171a2 T A 11: 102,437,881 (GRCm38) D684V probably damaging Het
Fan1 A G 7: 64,363,199 (GRCm38) V665A possibly damaging Het
Fbn2 A G 18: 58,037,747 (GRCm38) C2191R probably damaging Het
Fkbp3 G A 12: 65,073,918 (GRCm38) A2V probably benign Het
G6pd2 A G 5: 61,810,171 (GRCm38) N430D probably benign Het
Gm13119 G A 4: 144,363,782 (GRCm38) C464Y probably damaging Het
Gm13547 T A 2: 29,761,584 (GRCm38) D7E possibly damaging Het
Hdac5 A T 11: 102,205,812 (GRCm38) D260E probably damaging Het
Hist1h4i G T 13: 22,041,027 (GRCm38) Y99* probably null Het
Hsf2bp T C 17: 32,013,346 (GRCm38) E142G probably damaging Het
Igf1r C T 7: 68,165,155 (GRCm38) T268I probably damaging Het
Kcne3 C T 7: 100,184,439 (GRCm38) R88C probably damaging Het
Klk1b9 G T 7: 43,979,372 (GRCm38) G100V possibly damaging Het
Kmt2d G A 15: 98,853,581 (GRCm38) probably benign Het
Lama1 C T 17: 67,752,368 (GRCm38) probably benign Het
Lcp2 C T 11: 34,082,426 (GRCm38) P335S possibly damaging Het
Lrrk2 T A 15: 91,796,028 (GRCm38) N2047K probably damaging Het
Mcub T C 3: 129,918,726 (GRCm38) M167V probably benign Het
Mia2 T C 12: 59,136,143 (GRCm38) L36P probably damaging Het
Mmp13 G A 9: 7,274,032 (GRCm38) G169R probably damaging Het
Mmp13 A T 9: 7,282,077 (GRCm38) I460F possibly damaging Het
Msh4 A G 3: 153,896,895 (GRCm38) I232T probably damaging Het
Msra T A 14: 64,210,532 (GRCm38) M145L probably benign Het
Myo7a A T 7: 98,112,150 (GRCm38) probably benign Het
Nme8 A T 13: 19,658,036 (GRCm38) N422K probably damaging Het
Nol6 A T 4: 41,121,115 (GRCm38) F353I probably damaging Het
Nphp3 A G 9: 104,018,274 (GRCm38) K384E probably damaging Het
Olfr572 C T 7: 102,928,604 (GRCm38) probably null Het
Olfr652 A G 7: 104,564,337 (GRCm38) I39V probably benign Het
Olfr672 A G 7: 104,996,703 (GRCm38) I67T probably benign Het
Phox2b T G 5: 67,096,214 (GRCm38) probably benign Het
Plec A T 15: 76,173,411 (GRCm38) S4131T probably damaging Het
Pptc7 G A 5: 122,313,591 (GRCm38) probably benign Het
Prpf40b A G 15: 99,316,289 (GRCm38) E810G probably benign Het
Ptprc C T 1: 138,073,610 (GRCm38) V965I probably benign Het
Ranbp3 T C 17: 56,702,896 (GRCm38) probably benign Het
Rasgrf2 A G 13: 91,972,274 (GRCm38) S787P probably benign Het
Rnf19b T A 4: 129,073,551 (GRCm38) N294K probably damaging Het
Samd3 A T 10: 26,244,495 (GRCm38) H156L possibly damaging Het
Serpinb6c C T 13: 33,880,031 (GRCm38) R347Q possibly damaging Het
Slc36a3 A G 11: 55,125,080 (GRCm38) I416T probably damaging Het
Slc4a4 T A 5: 89,129,641 (GRCm38) F279Y probably damaging Het
Slc6a2 T A 8: 92,992,801 (GRCm38) probably benign Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Tab2 A G 10: 7,919,801 (GRCm38) S232P probably benign Het
Tacc2 A T 7: 130,625,595 (GRCm38) K1356* probably null Het
Tmem87a A G 2: 120,359,542 (GRCm38) S544P probably damaging Het
Trim52 T A 14: 106,106,967 (GRCm38) C20S probably damaging Het
Usp38 A T 8: 81,014,150 (GRCm38) V96E probably benign Het
Vmn2r59 T C 7: 42,058,884 (GRCm38) Y33C probably damaging Het
Vsig10l T G 7: 43,464,137 (GRCm38) V171G probably damaging Het
Zfp957 T A 14: 79,212,920 (GRCm38) I480F probably damaging Het
Other mutations in Pum1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Pum1 APN 4 130,743,789 (GRCm38) missense probably damaging 1.00
IGL01327:Pum1 APN 4 130,730,543 (GRCm38) missense probably damaging 0.97
IGL01360:Pum1 APN 4 130,728,170 (GRCm38) intron probably benign
IGL02055:Pum1 APN 4 130,754,054 (GRCm38) missense probably benign 0.19
IGL02713:Pum1 APN 4 130,766,012 (GRCm38) missense probably damaging 1.00
IGL03401:Pum1 APN 4 130,743,681 (GRCm38) splice site probably benign
LCD18:Pum1 UTSW 4 130,730,549 (GRCm38) intron probably benign
R0077:Pum1 UTSW 4 130,772,674 (GRCm38) missense probably benign 0.06
R0346:Pum1 UTSW 4 130,779,805 (GRCm38) missense possibly damaging 0.74
R0870:Pum1 UTSW 4 130,768,844 (GRCm38) missense probably damaging 0.99
R1006:Pum1 UTSW 4 130,771,888 (GRCm38) missense probably damaging 0.98
R1300:Pum1 UTSW 4 130,765,961 (GRCm38) missense probably damaging 1.00
R1499:Pum1 UTSW 4 130,719,256 (GRCm38) missense probably damaging 1.00
R1572:Pum1 UTSW 4 130,718,204 (GRCm38) missense probably damaging 0.99
R1835:Pum1 UTSW 4 130,701,048 (GRCm38) missense possibly damaging 0.93
R1864:Pum1 UTSW 4 130,751,525 (GRCm38) missense possibly damaging 0.90
R1991:Pum1 UTSW 4 130,718,218 (GRCm38) missense possibly damaging 0.93
R2068:Pum1 UTSW 4 130,774,434 (GRCm38) missense probably benign 0.02
R2119:Pum1 UTSW 4 130,669,270 (GRCm38) missense possibly damaging 0.92
R2120:Pum1 UTSW 4 130,669,270 (GRCm38) missense possibly damaging 0.92
R2122:Pum1 UTSW 4 130,669,270 (GRCm38) missense possibly damaging 0.92
R2153:Pum1 UTSW 4 130,751,491 (GRCm38) missense probably damaging 1.00
R2164:Pum1 UTSW 4 130,728,084 (GRCm38) missense probably damaging 0.99
R2164:Pum1 UTSW 4 130,728,083 (GRCm38) nonsense probably null
R2280:Pum1 UTSW 4 130,766,011 (GRCm38) missense probably damaging 1.00
R3116:Pum1 UTSW 4 130,772,660 (GRCm38) missense probably damaging 1.00
R3890:Pum1 UTSW 4 130,764,082 (GRCm38) missense probably damaging 1.00
R3891:Pum1 UTSW 4 130,764,082 (GRCm38) missense probably damaging 1.00
R3892:Pum1 UTSW 4 130,764,082 (GRCm38) missense probably damaging 1.00
R4134:Pum1 UTSW 4 130,764,069 (GRCm38) missense probably damaging 1.00
R4258:Pum1 UTSW 4 130,730,280 (GRCm38) missense probably damaging 1.00
R4731:Pum1 UTSW 4 130,718,193 (GRCm38) missense probably benign 0.00
R4732:Pum1 UTSW 4 130,718,193 (GRCm38) missense probably benign 0.00
R4733:Pum1 UTSW 4 130,718,193 (GRCm38) missense probably benign 0.00
R4973:Pum1 UTSW 4 130,669,137 (GRCm38) missense probably benign 0.27
R5198:Pum1 UTSW 4 130,779,879 (GRCm38) nonsense probably null
R5249:Pum1 UTSW 4 130,762,814 (GRCm38) missense probably benign 0.07
R5478:Pum1 UTSW 4 130,751,484 (GRCm38) missense possibly damaging 0.93
R5652:Pum1 UTSW 4 130,764,127 (GRCm38) missense possibly damaging 0.95
R5932:Pum1 UTSW 4 130,730,366 (GRCm38) missense probably benign 0.04
R6008:Pum1 UTSW 4 130,768,847 (GRCm38) missense probably damaging 1.00
R6112:Pum1 UTSW 4 130,730,280 (GRCm38) missense probably damaging 1.00
R6416:Pum1 UTSW 4 130,728,287 (GRCm38) splice site probably null
R6426:Pum1 UTSW 4 130,753,972 (GRCm38) missense probably damaging 1.00
R6431:Pum1 UTSW 4 130,774,505 (GRCm38) missense probably damaging 1.00
R7226:Pum1 UTSW 4 130,771,981 (GRCm38) missense probably damaging 1.00
R7273:Pum1 UTSW 4 130,751,480 (GRCm38) missense probably damaging 0.99
R7423:Pum1 UTSW 4 130,774,545 (GRCm38) missense probably damaging 1.00
R7491:Pum1 UTSW 4 130,719,174 (GRCm38) missense probably benign 0.08
R7526:Pum1 UTSW 4 130,747,026 (GRCm38) missense probably damaging 0.99
R7731:Pum1 UTSW 4 130,762,963 (GRCm38) missense probably benign 0.29
R7911:Pum1 UTSW 4 130,774,477 (GRCm38) missense probably benign 0.40
R8065:Pum1 UTSW 4 130,751,525 (GRCm38) missense possibly damaging 0.90
R8067:Pum1 UTSW 4 130,751,525 (GRCm38) missense possibly damaging 0.90
R8305:Pum1 UTSW 4 130,771,920 (GRCm38) missense probably benign 0.02
R8476:Pum1 UTSW 4 130,752,713 (GRCm38) missense possibly damaging 0.91
R8835:Pum1 UTSW 4 130,743,753 (GRCm38) missense probably damaging 1.00
R8875:Pum1 UTSW 4 130,779,875 (GRCm38) missense possibly damaging 0.60
R9003:Pum1 UTSW 4 130,747,082 (GRCm38) missense probably benign 0.00
R9072:Pum1 UTSW 4 130,752,861 (GRCm38) missense probably damaging 1.00
R9073:Pum1 UTSW 4 130,752,861 (GRCm38) missense probably damaging 1.00
R9332:Pum1 UTSW 4 130,771,898 (GRCm38) nonsense probably null
R9496:Pum1 UTSW 4 130,719,353 (GRCm38) critical splice donor site probably null
R9801:Pum1 UTSW 4 130,754,017 (GRCm38) missense probably benign 0.28
X0024:Pum1 UTSW 4 130,779,790 (GRCm38) missense probably benign 0.00
Z1177:Pum1 UTSW 4 130,751,479 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGTAATGTCAGGCATGGGCAC -3'
(R):5'- TGGACAGCTCTTGGGAAATCCCAC -3'

Sequencing Primer
(F):5'- TCCCAGTTAGCATTTAGTGTAGTC -3'
(R):5'- GGGAAATCCCACCTTACCAGTTAG -3'
Posted On 2013-07-11