Incidental Mutation 'R9003:Pum1'
ID 685081
Institutional Source Beutler Lab
Gene Symbol Pum1
Ensembl Gene ENSMUSG00000028580
Gene Name pumilio RNA-binding family member 1
Synonyms Pumm
MMRRC Submission 068833-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R9003 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 130390632-130508875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 130474393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 488 (S488A)
Ref Sequence ENSEMBL: ENSMUSP00000030315 (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: S488A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: S488A

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: S487A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: S487A

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: S487A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: S487A

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
AA Change: S245A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: S245A

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: S391A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: S391A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,850,013 (GRCm39) H917Y possibly damaging Het
Acot4 A G 12: 84,089,969 (GRCm39) K222R possibly damaging Het
Akap12 A G 10: 4,306,744 (GRCm39) S1290G probably benign Het
Arid1a T C 4: 133,411,799 (GRCm39) I1311V unknown Het
Asf1b G T 8: 84,682,530 (GRCm39) E25* probably null Het
Atp10a T A 7: 58,457,203 (GRCm39) W901R probably damaging Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Carmil2 A G 8: 106,423,905 (GRCm39) T1253A probably damaging Het
Ccdc146 T C 5: 21,508,132 (GRCm39) T639A possibly damaging Het
Cdca4 A G 12: 112,785,659 (GRCm39) V23A probably benign Het
Chpt1 A G 10: 88,312,943 (GRCm39) F290L probably damaging Het
Clca3b C T 3: 144,533,072 (GRCm39) W653* probably null Het
Coa8 A G 12: 111,688,189 (GRCm39) *45W probably null Het
Cpb2 A T 14: 75,479,868 (GRCm39) probably benign Het
Cul9 A G 17: 46,836,001 (GRCm39) V1215A possibly damaging Het
Cxxc4 A T 3: 133,945,431 (GRCm39) N4I unknown Het
Eps8l1 G T 7: 4,464,016 (GRCm39) V47F possibly damaging Het
Exoc6 T C 19: 37,587,097 (GRCm39) I537T probably damaging Het
Fbn2 T C 18: 58,176,591 (GRCm39) Y2040C probably damaging Het
Gfm2 T G 13: 97,282,889 (GRCm39) probably benign Het
Jak2 A T 19: 29,254,240 (GRCm39) M187L probably benign Het
Kif5b A G 18: 6,224,047 (GRCm39) V247A probably benign Het
Klhl22 T C 16: 17,589,612 (GRCm39) V91A probably damaging Het
Ldhd T C 8: 112,356,894 (GRCm39) S17G probably benign Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mecom T C 3: 30,034,639 (GRCm39) I346V probably benign Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek4 C T 14: 30,704,471 (GRCm39) T662M probably benign Het
Or10g3b T A 14: 52,586,768 (GRCm39) H245L probably damaging Het
Or2y1b C T 11: 49,209,155 (GRCm39) P261S possibly damaging Het
Or4c117 T A 2: 88,956,024 (GRCm39) Q17L possibly damaging Het
Or4k42 A G 2: 111,320,411 (GRCm39) F31L probably benign Het
Or5ac19 A T 16: 59,089,263 (GRCm39) F256I probably benign Het
Or8c18 C T 9: 38,203,343 (GRCm39) T34I probably benign Het
Phc3 G A 3: 31,020,007 (GRCm39) T19I possibly damaging Het
Pla2g4e T A 2: 120,007,282 (GRCm39) Q472L probably benign Het
Plcg2 C T 8: 118,342,002 (GRCm39) T1121I Het
Plin2 T C 4: 86,580,324 (GRCm39) T146A probably benign Het
Robo1 A G 16: 72,539,002 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,822,188 (GRCm39) L102P probably damaging Het
Sbno2 A T 10: 79,896,049 (GRCm39) V939E probably damaging Het
Scarf1 A T 11: 75,406,069 (GRCm39) T118S possibly damaging Het
Sdcbp2 G A 2: 151,429,113 (GRCm39) V171M probably benign Het
Sh3pxd2b T C 11: 32,361,571 (GRCm39) I261T probably damaging Het
Slc4a9 A G 18: 36,673,787 (GRCm39) probably null Het
Smpdl3a A G 10: 57,683,977 (GRCm39) Y245C probably damaging Het
Stk39 T C 2: 68,222,462 (GRCm39) I201V probably damaging Het
Timm44 A G 8: 4,324,204 (GRCm39) L25P possibly damaging Het
Tinf2 T C 14: 55,917,859 (GRCm39) H210R probably benign Het
Tmem168 A T 6: 13,591,446 (GRCm39) Y457N probably benign Het
Topbp1 T C 9: 103,200,727 (GRCm39) S587P probably benign Het
Tpp1 T A 7: 105,398,156 (GRCm39) I336F probably benign Het
Ttc28 G A 5: 111,424,896 (GRCm39) V1574I probably benign Het
Tut4 A G 4: 108,400,029 (GRCm39) K1277E probably damaging Het
Vmn2r52 A T 7: 9,905,181 (GRCm39) D219E probably benign Het
Zbtb40 G T 4: 136,745,904 (GRCm39) A43E probably damaging Het
Zfp970 G A 2: 177,167,010 (GRCm39) A195T probably damaging 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
R0346:Pum1 UTSW 4 130,507,116 (GRCm39) missense possibly damaging 0.74
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
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'- TGGGGTCTCACCTTTTAAGATCTG -3'
(R):5'- TGACCGTGTACACAGGAAC -3'

Sequencing Primer
(F):5'- GTGGTCCCTCACCAATAT -3'
(R):5'- CGTGTACACAGGAACTCAGC -3'
Posted On 2021-10-11