Incidental Mutation 'R6416:Pum1'
ID 540702
Institutional Source Beutler Lab
Gene Symbol Pum1
Ensembl Gene ENSMUSG00000028580
Gene Name pumilio RNA-binding family member 1
Synonyms Pumm
MMRRC Submission 044558-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R6416 (G1)
Quality Score 150.008
Status Validated
Chromosome 4
Chromosomal Location 130390632-130508875 bp(+) (GRCm39)
Type of Mutation splice site (123 bp from exon)
DNA Base Change (assembly) A to G at 130455598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030315] [ENSMUST00000097862] [ENSMUST00000097864] [ENSMUST00000105992]
AlphaFold Q80U78
Predicted Effect probably null
Transcript: ENSMUST00000030315
SMART Domains Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580

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 null
Transcript: ENSMUST00000097862
SMART Domains Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580

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 null
Transcript: ENSMUST00000097864
SMART Domains Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580

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 null
Transcript: ENSMUST00000105992
SMART Domains Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.4%
  • 20x: 94.6%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C A 16: 88,504,779 (GRCm39) R6L unknown Het
Anxa11 A G 14: 25,874,694 (GRCm39) Q235R possibly damaging Het
Ap2b1 T A 11: 83,199,065 (GRCm39) M1K probably null Het
Atl2 G A 17: 80,157,652 (GRCm39) T563I probably benign Het
Azin1 A T 15: 38,492,587 (GRCm39) S307R possibly damaging Het
Ccdc153 A G 9: 44,157,077 (GRCm39) T118A probably benign Het
Chac1 G A 2: 119,184,015 (GRCm39) V206I probably damaging Het
Chrm3 A G 13: 9,927,698 (GRCm39) V446A probably benign Het
Cped1 T C 6: 22,123,648 (GRCm39) F467S probably damaging Het
Csmd3 G A 15: 48,536,956 (GRCm39) P82L probably damaging Het
Ddx60 T A 8: 62,430,984 (GRCm39) S840T probably benign Het
Ddx60 C T 8: 62,451,715 (GRCm39) H1202Y probably benign Het
Dnah8 T A 17: 30,984,609 (GRCm39) N3102K probably benign Het
Dst A T 1: 34,155,209 (GRCm39) K85M probably damaging Het
Ehbp1l1 T C 19: 5,768,785 (GRCm39) I839M probably benign Het
Fam184b T A 5: 45,694,995 (GRCm39) M750L probably benign Het
Frem2 T C 3: 53,479,799 (GRCm39) T1965A probably benign Het
Ftl1 A T 7: 45,108,634 (GRCm39) D41E probably benign Het
Garem2 G A 5: 30,321,735 (GRCm39) W698* probably null Het
Glt8d2 T C 10: 82,488,740 (GRCm39) Y283C probably damaging Het
Hars1 T C 18: 36,906,643 (GRCm39) E109G possibly damaging Het
Hspb9 T C 11: 100,605,036 (GRCm39) S121P probably damaging Het
Hus1b A T 13: 31,131,188 (GRCm39) L157Q probably damaging Het
Hykk A G 9: 54,853,643 (GRCm39) M322V probably benign Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Il17f T A 1: 20,848,131 (GRCm39) M116L probably benign Het
Kif22 T C 7: 126,628,104 (GRCm39) K9E possibly damaging Het
Krt90 T C 15: 101,467,679 (GRCm39) E233G probably benign Het
Lipg T C 18: 75,090,307 (GRCm39) M81V probably benign Het
Mocos C T 18: 24,834,513 (GRCm39) S850L probably damaging Het
Mug2 T A 6: 122,059,713 (GRCm39) S1364T probably damaging Het
Neb A T 2: 52,075,340 (GRCm39) N208K probably benign Het
Oca2 G T 7: 55,978,515 (GRCm39) R561L probably benign Het
Olfm5 A G 7: 103,803,260 (GRCm39) L401P probably damaging Het
Or12d17 T A 17: 37,777,971 (GRCm39) Y291* probably null Het
Or2t49 T C 11: 58,393,166 (GRCm39) D72G probably damaging Het
Or4a39 C A 2: 89,236,866 (GRCm39) A186S possibly damaging Het
Or7g16 G A 9: 18,727,188 (GRCm39) T134M probably benign Het
Or8g33 T A 9: 39,338,187 (GRCm39) Y60F probably damaging Het
Oxgr1 T C 14: 120,259,860 (GRCm39) N116D probably damaging Het
Pcdha11 G T 18: 37,145,222 (GRCm39) probably null Het
Pi4ka T C 16: 17,176,186 (GRCm39) I418V probably benign Het
Pih1d2 T C 9: 50,529,909 (GRCm39) V62A probably benign Het
Pkib T A 10: 57,604,234 (GRCm39) V46E probably damaging Het
Rbak G T 5: 143,162,307 (GRCm39) Q19K possibly damaging Het
Sema3c A G 5: 17,781,959 (GRCm39) T32A probably damaging Het
Shprh T C 10: 11,043,617 (GRCm39) W835R probably damaging Het
Sis T G 3: 72,819,187 (GRCm39) K1456N probably damaging Het
Slc4a4 A T 5: 89,327,588 (GRCm39) N675I probably benign Het
Slc8a3 C A 12: 81,362,401 (GRCm39) M139I probably damaging Het
Sorcs3 T C 19: 48,791,198 (GRCm39) F1182S probably damaging Het
St8sia2 A T 7: 73,621,669 (GRCm39) I96N probably damaging Het
Stx19 T C 16: 62,642,420 (GRCm39) S79P probably damaging Het
Tecta C T 9: 42,286,563 (GRCm39) V698M probably damaging Het
Timm22 T C 11: 76,301,965 (GRCm39) S150P probably damaging Het
Tjp1 C T 7: 64,962,953 (GRCm39) D995N possibly damaging Het
Tmem135 T A 7: 88,797,002 (GRCm39) T365S probably benign Het
Tmem174 T C 13: 98,773,489 (GRCm39) T114A probably benign Het
Tnc A G 4: 63,926,053 (GRCm39) I909T probably benign Het
Trcg1 A G 9: 57,148,613 (GRCm39) I62V possibly damaging Het
Tulp1 A T 17: 28,575,005 (GRCm39) *487K probably null Het
Unc79 T A 12: 103,097,905 (GRCm39) V1826E possibly damaging Het
Vmn2r13 A T 5: 109,321,982 (GRCm39) N238K probably damaging Het
Vmn2r22 T A 6: 123,614,697 (GRCm39) N298Y probably damaging Het
Vmn2r23 T A 6: 123,689,861 (GRCm39) F246I probably damaging Het
Vps9d1 A C 8: 123,975,378 (GRCm39) V194G probably damaging Het
Zfp260 A T 7: 29,804,235 (GRCm39) H45L possibly damaging Het
Zfp846 A T 9: 20,505,016 (GRCm39) H292L possibly 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
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'- GACAAGACCAATGGTTTGCC -3'
(R):5'- TTCTCCCTCCAATGTGAGAGAG -3'

Sequencing Primer
(F):5'- CCAGTGCAGAATGGGATTGATGC -3'
(R):5'- TCAATGTCCATGGCTCTGG -3'
Posted On 2018-11-14