Incidental Mutation 'R0346:Pum1'
ID 34250
Institutional Source Beutler Lab
Gene Symbol Pum1
Ensembl Gene ENSMUSG00000028580
Gene Name pumilio RNA-binding family member 1
Synonyms Pumm
MMRRC Submission 038553-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R0346 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130390632-130508875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130507116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1157 (T1157S)
Ref Sequence ENSEMBL: ENSMUSP00000095474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030315] [ENSMUST00000097862] [ENSMUST00000097864] [ENSMUST00000105991] [ENSMUST00000105992]
AlphaFold Q80U78
Predicted Effect possibly damaging
Transcript: ENSMUST00000030315
AA Change: T1158S

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: T1158S

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 noncoding transcript
Transcript: ENSMUST00000083856
Predicted Effect possibly damaging
Transcript: ENSMUST00000097862
AA Change: T1157S

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: T1157S

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: T1155S

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: T1155S

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 possibly damaging
Transcript: ENSMUST00000105991
AA Change: T913S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: T913S

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: T1061S

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: T1061S

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 noncoding transcript
Transcript: ENSMUST00000180943
Meta Mutation Damage Score 0.1504 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (79/79)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,516,278 (GRCm39) I4406L probably damaging Het
Abca16 T A 7: 120,035,155 (GRCm39) C314S probably damaging Het
Add3 C T 19: 53,205,387 (GRCm39) R46* probably null Het
Alas1 A T 9: 106,120,550 (GRCm39) S82T possibly damaging Het
Alkbh5 C G 11: 60,429,567 (GRCm39) R107G possibly damaging Het
Ap3b1 A T 13: 94,582,479 (GRCm39) R365* probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
AU021092 T C 16: 5,034,718 (GRCm39) D168G possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Caln1 C A 5: 130,851,762 (GRCm39) H184N possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ccdc191 T C 16: 43,759,315 (GRCm39) V372A probably damaging Het
Ccng2 T G 5: 93,418,753 (GRCm39) I126S probably damaging Het
Cep85 A T 4: 133,859,733 (GRCm39) N643K probably damaging Het
Clvs2 G C 10: 33,498,542 (GRCm39) S129R possibly damaging Het
Cntn1 G T 15: 92,129,968 (GRCm39) probably benign Het
Cttn A T 7: 144,006,276 (GRCm39) probably benign Het
Dedd2 T C 7: 24,910,694 (GRCm39) S161G possibly damaging Het
Dnajb13 T C 7: 100,153,132 (GRCm39) D263G probably damaging Het
Dppa4 T A 16: 48,109,687 (GRCm39) probably benign Het
Ear2 A G 14: 44,340,363 (GRCm39) E7G probably damaging Het
Eif2b4 A G 5: 31,345,452 (GRCm39) probably benign Het
Etl4 G T 2: 20,764,463 (GRCm39) probably null Het
Fbxo15 T A 18: 84,978,346 (GRCm39) probably null Het
Gm9970 A G 5: 31,398,182 (GRCm39) probably benign Het
Hap1 A G 11: 100,246,855 (GRCm39) S17P probably benign Het
Hgd C T 16: 37,409,136 (GRCm39) probably benign Het
Ift56 T C 6: 38,386,370 (GRCm39) C364R probably damaging Het
Inpp5f T A 7: 128,292,392 (GRCm39) L16Q probably damaging Het
Irag1 T C 7: 110,498,183 (GRCm39) D404G probably damaging Het
Islr2 G A 9: 58,105,626 (GRCm39) R545* probably null Het
Itgav G T 2: 83,622,953 (GRCm39) C675F probably damaging Het
Kif13a T A 13: 46,967,695 (GRCm39) I403L possibly damaging Het
Kif14 T A 1: 136,395,898 (GRCm39) I68N probably damaging Het
Kif26a G T 12: 112,145,782 (GRCm39) K1764N probably null Het
Lrrd1 C A 5: 3,900,215 (GRCm39) F173L probably benign Het
Mroh4 G C 15: 74,486,141 (GRCm39) probably benign Het
Msh5 A G 17: 35,248,864 (GRCm39) V723A probably benign Het
Mybph T G 1: 134,125,492 (GRCm39) I279S probably damaging Het
Myh4 A T 11: 67,151,152 (GRCm39) I1936L probably benign Het
Myo1h A T 5: 114,493,270 (GRCm39) T704S probably benign Het
Nav2 C A 7: 49,254,333 (GRCm39) T2377K probably benign Het
Nipbl T G 15: 8,390,440 (GRCm39) Q276H probably damaging Het
Nlrp9b T C 7: 19,758,440 (GRCm39) L559P probably damaging Het
Nup210l T A 3: 90,096,745 (GRCm39) V1318E probably damaging Het
Or1e26 A G 11: 73,480,283 (GRCm39) Y94H probably damaging Het
Or4z4 A T 19: 12,076,803 (GRCm39) S67T probably damaging Het
Or6c8b C A 10: 128,882,342 (GRCm39) V197F possibly damaging Het
Or7e178 A G 9: 20,225,707 (GRCm39) S170P probably benign Het
P2ry13 T C 3: 59,116,987 (GRCm39) T264A possibly damaging Het
Plekhg5 T C 4: 152,198,710 (GRCm39) L966P probably benign Het
Prss35 A G 9: 86,637,404 (GRCm39) K58R probably benign Het
Ptafr T A 4: 132,307,390 (GRCm39) L260* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf145 A G 11: 44,445,991 (GRCm39) Y275C probably damaging Het
Rpl6 A T 5: 121,346,554 (GRCm39) K218N possibly damaging Het
Rps6 T C 4: 86,774,218 (GRCm39) T128A probably benign Het
Ryr1 G T 7: 28,767,013 (GRCm39) probably benign Het
Scel A T 14: 103,767,420 (GRCm39) Q26H probably damaging Het
Sfxn4 A T 19: 60,847,111 (GRCm39) D57E probably benign Het
Slc35d1 A C 4: 103,048,044 (GRCm39) L240R probably damaging Het
Smcr8 A G 11: 60,670,576 (GRCm39) I575V probably benign Het
Spata31e4 T C 13: 50,857,346 (GRCm39) Y995H probably benign Het
Syk G A 13: 52,794,695 (GRCm39) M476I probably damaging Het
Tbcel A T 9: 42,348,539 (GRCm39) probably benign Het
Tob2 C A 15: 81,742,424 (GRCm39) G65W probably damaging Het
Trim16 A G 11: 62,731,520 (GRCm39) N464D probably benign Het
Trim36 T C 18: 46,332,776 (GRCm39) probably benign Het
Trpv4 C A 5: 114,768,590 (GRCm39) probably benign Het
Tsga10 T A 1: 37,879,600 (GRCm39) T64S possibly damaging Het
Vars2 A T 17: 35,975,756 (GRCm39) probably benign Het
Vmn1r72 C A 7: 11,403,621 (GRCm39) V276L probably benign Het
Vps13a T A 19: 16,655,333 (GRCm39) K1898N probably benign Het
Vps18 A G 2: 119,127,645 (GRCm39) M823V probably damaging Het
Washc2 T C 6: 116,197,484 (GRCm39) probably benign Het
Zfp763 A T 17: 33,238,721 (GRCm39) H141Q probably benign Het
Other mutations in Pum1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Pum1 APN 4 130,471,100 (GRCm39) missense probably damaging 1.00
IGL01327:Pum1 APN 4 130,457,854 (GRCm39) missense probably damaging 0.97
IGL01360:Pum1 APN 4 130,455,481 (GRCm39) intron probably benign
IGL02055:Pum1 APN 4 130,481,365 (GRCm39) missense probably benign 0.19
IGL02713:Pum1 APN 4 130,493,323 (GRCm39) missense probably damaging 1.00
IGL03401:Pum1 APN 4 130,470,992 (GRCm39) splice site probably benign
LCD18:Pum1 UTSW 4 130,730,549 (GRCm38) intron probably benign
R0077:Pum1 UTSW 4 130,499,985 (GRCm39) missense probably benign 0.06
R0632:Pum1 UTSW 4 130,455,415 (GRCm39) missense probably benign 0.34
R0870:Pum1 UTSW 4 130,496,155 (GRCm39) missense probably damaging 0.99
R1006:Pum1 UTSW 4 130,499,199 (GRCm39) missense probably damaging 0.98
R1300:Pum1 UTSW 4 130,493,272 (GRCm39) missense probably damaging 1.00
R1499:Pum1 UTSW 4 130,446,567 (GRCm39) missense probably damaging 1.00
R1572:Pum1 UTSW 4 130,445,515 (GRCm39) missense probably damaging 0.99
R1835:Pum1 UTSW 4 130,428,359 (GRCm39) missense possibly damaging 0.93
R1864:Pum1 UTSW 4 130,478,836 (GRCm39) missense possibly damaging 0.90
R1991:Pum1 UTSW 4 130,445,529 (GRCm39) missense possibly damaging 0.93
R2068:Pum1 UTSW 4 130,501,745 (GRCm39) missense probably benign 0.02
R2119:Pum1 UTSW 4 130,396,581 (GRCm39) missense possibly damaging 0.92
R2120:Pum1 UTSW 4 130,396,581 (GRCm39) missense possibly damaging 0.92
R2122:Pum1 UTSW 4 130,396,581 (GRCm39) missense possibly damaging 0.92
R2153:Pum1 UTSW 4 130,478,802 (GRCm39) missense probably damaging 1.00
R2164:Pum1 UTSW 4 130,455,395 (GRCm39) missense probably damaging 0.99
R2164:Pum1 UTSW 4 130,455,394 (GRCm39) nonsense probably null
R2280:Pum1 UTSW 4 130,493,322 (GRCm39) missense probably damaging 1.00
R3116:Pum1 UTSW 4 130,499,971 (GRCm39) missense probably damaging 1.00
R3890:Pum1 UTSW 4 130,491,393 (GRCm39) missense probably damaging 1.00
R3891:Pum1 UTSW 4 130,491,393 (GRCm39) missense probably damaging 1.00
R3892:Pum1 UTSW 4 130,491,393 (GRCm39) missense probably damaging 1.00
R4134:Pum1 UTSW 4 130,491,380 (GRCm39) missense probably damaging 1.00
R4258:Pum1 UTSW 4 130,457,591 (GRCm39) missense probably damaging 1.00
R4731:Pum1 UTSW 4 130,445,504 (GRCm39) missense probably benign 0.00
R4732:Pum1 UTSW 4 130,445,504 (GRCm39) missense probably benign 0.00
R4733:Pum1 UTSW 4 130,445,504 (GRCm39) missense probably benign 0.00
R4973:Pum1 UTSW 4 130,396,448 (GRCm39) missense probably benign 0.27
R5198:Pum1 UTSW 4 130,507,190 (GRCm39) nonsense probably null
R5249:Pum1 UTSW 4 130,490,125 (GRCm39) missense probably benign 0.07
R5478:Pum1 UTSW 4 130,478,795 (GRCm39) missense possibly damaging 0.93
R5652:Pum1 UTSW 4 130,491,438 (GRCm39) missense possibly damaging 0.95
R5932:Pum1 UTSW 4 130,457,677 (GRCm39) missense probably benign 0.04
R6008:Pum1 UTSW 4 130,496,158 (GRCm39) missense probably damaging 1.00
R6112:Pum1 UTSW 4 130,457,591 (GRCm39) missense probably damaging 1.00
R6416:Pum1 UTSW 4 130,455,598 (GRCm39) splice site probably null
R6426:Pum1 UTSW 4 130,481,283 (GRCm39) missense probably damaging 1.00
R6431:Pum1 UTSW 4 130,501,816 (GRCm39) missense probably damaging 1.00
R7226:Pum1 UTSW 4 130,499,292 (GRCm39) missense probably damaging 1.00
R7273:Pum1 UTSW 4 130,478,791 (GRCm39) missense probably damaging 0.99
R7423:Pum1 UTSW 4 130,501,856 (GRCm39) missense probably damaging 1.00
R7491:Pum1 UTSW 4 130,446,485 (GRCm39) missense probably benign 0.08
R7526:Pum1 UTSW 4 130,474,337 (GRCm39) missense probably damaging 0.99
R7731:Pum1 UTSW 4 130,490,274 (GRCm39) missense probably benign 0.29
R7911:Pum1 UTSW 4 130,501,788 (GRCm39) missense probably benign 0.40
R8065:Pum1 UTSW 4 130,478,836 (GRCm39) missense possibly damaging 0.90
R8067:Pum1 UTSW 4 130,478,836 (GRCm39) missense possibly damaging 0.90
R8305:Pum1 UTSW 4 130,499,231 (GRCm39) missense probably benign 0.02
R8476:Pum1 UTSW 4 130,480,024 (GRCm39) missense possibly damaging 0.91
R8835:Pum1 UTSW 4 130,471,064 (GRCm39) missense probably damaging 1.00
R8875:Pum1 UTSW 4 130,507,186 (GRCm39) missense possibly damaging 0.60
R9003:Pum1 UTSW 4 130,474,393 (GRCm39) missense probably benign 0.00
R9072:Pum1 UTSW 4 130,480,172 (GRCm39) missense probably damaging 1.00
R9073:Pum1 UTSW 4 130,480,172 (GRCm39) missense probably damaging 1.00
R9332:Pum1 UTSW 4 130,499,209 (GRCm39) nonsense probably null
R9496:Pum1 UTSW 4 130,446,664 (GRCm39) critical splice donor site probably null
R9801:Pum1 UTSW 4 130,481,328 (GRCm39) missense probably benign 0.28
X0024:Pum1 UTSW 4 130,507,101 (GRCm39) missense probably benign 0.00
Z1177:Pum1 UTSW 4 130,478,790 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGAGTACCTTTCGGGATGAAGCAC -3'
(R):5'- TGCAAAACTTGCCACAAGGCAAATG -3'

Sequencing Primer
(F):5'- GTAATACCCACACTGTCCTCTC -3'
(R):5'- TTGAACAAAGCATGTGGCCTC -3'
Posted On 2013-05-09