Incidental Mutation 'R7226:Pum1'
ID 562146
Institutional Source Beutler Lab
Gene Symbol Pum1
Ensembl Gene ENSMUSG00000028580
Gene Name pumilio RNA-binding family member 1
Synonyms Pumm
MMRRC Submission 045298-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R7226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 130390632-130508875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 130499292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1036 (T1036K)
Ref Sequence ENSEMBL: ENSMUSP00000030315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030315] [ENSMUST00000097862] [ENSMUST00000097864] [ENSMUST00000105991] [ENSMUST00000105992]
AlphaFold Q80U78
Predicted Effect probably damaging
Transcript: ENSMUST00000030315
AA Change: T1036K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: T1036K

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 damaging
Transcript: ENSMUST00000097862
AA Change: T1035K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: T1035K

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 damaging
Transcript: ENSMUST00000097864
AA Change: T1033K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: T1033K

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 damaging
Transcript: ENSMUST00000105991
AA Change: T791K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: T791K

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 damaging
Transcript: ENSMUST00000105992
AA Change: T939K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: T939K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025B11Rik C T 15: 77,443,189 (GRCm39) V17I unknown Het
Acad8 T A 9: 26,889,726 (GRCm39) K323* probably null Het
Adam18 A T 8: 25,137,824 (GRCm39) C339S probably damaging Het
Anxa7 A G 14: 20,510,263 (GRCm39) F396L probably damaging Het
Ap2m1 T A 16: 20,358,201 (GRCm39) V73D probably damaging Het
Asic2 A T 11: 80,862,340 (GRCm39) I270N probably damaging Het
Atrn T G 2: 130,828,664 (GRCm39) C1070G probably damaging Het
Bag6 A G 17: 35,361,921 (GRCm39) N517S unknown Het
Bhmt1b A G 18: 87,775,590 (GRCm39) D371G possibly damaging Het
Bltp3b A T 10: 89,644,503 (GRCm39) Q1181L probably benign Het
Cavin1 A C 11: 100,861,284 (GRCm39) D3E probably benign Het
Cc2d2b T C 19: 40,779,751 (GRCm39) L571P unknown Het
Ccbe1 A T 18: 66,216,199 (GRCm39) C175S probably damaging Het
Cd19 A G 7: 126,013,995 (GRCm39) L5P unknown Het
Cd46 A G 1: 194,724,314 (GRCm39) S362P possibly damaging Het
Celf5 A G 10: 81,303,863 (GRCm39) S198P probably damaging Het
Cep170b A G 12: 112,704,359 (GRCm39) R706G possibly damaging Het
Chd3 G T 11: 69,260,037 (GRCm39) R61S unknown Het
Cpsf6 A C 10: 117,197,727 (GRCm39) W253G unknown Het
Cyp27a1 G A 1: 74,776,507 (GRCm39) G481D probably damaging Het
Ddr1 C T 17: 36,002,039 (GRCm39) D218N possibly damaging Het
Dhx34 A T 7: 15,932,801 (GRCm39) V1046D probably damaging Het
Dhx9 A T 1: 153,341,423 (GRCm39) D608E probably benign Het
Dnajc6 C A 4: 101,496,569 (GRCm39) A912E probably damaging Het
Ehmt1 T C 2: 24,694,794 (GRCm39) D1051G probably damaging Het
Fam217b C A 2: 178,062,996 (GRCm39) A320E probably benign Het
Farsa T A 8: 85,590,689 (GRCm39) I169N probably benign Het
Fbn2 A G 18: 58,170,142 (GRCm39) C2210R probably damaging Het
Fbxo3 T A 2: 103,880,642 (GRCm39) S251T probably benign Het
Fer1l6 C T 15: 58,462,384 (GRCm39) T813I probably benign Het
Ftl1-ps1 A T 13: 74,555,114 (GRCm39) E131V probably damaging Het
Gins3 T A 8: 96,364,499 (GRCm39) I83N probably damaging Het
Gja3 T C 14: 57,273,350 (GRCm39) T341A probably benign Het
Gja5 A G 3: 96,958,174 (GRCm39) Y77C probably damaging Het
Gm7247 A G 14: 51,602,808 (GRCm39) K48R probably damaging Het
Gsx2 C A 5: 75,236,621 (GRCm39) S67* probably null Het
H2-Q5 T A 17: 35,616,089 (GRCm39) L217Q Het
Impg2 T A 16: 56,087,467 (GRCm39) C1095* probably null Het
Itga7 G T 10: 128,776,801 (GRCm39) W222L probably damaging Het
Kdm2b T A 5: 123,059,512 (GRCm39) D530V possibly damaging Het
Klhdc8a A T 1: 132,230,344 (GRCm39) D153V probably damaging Het
Lin28a C T 4: 133,733,619 (GRCm39) G143S probably damaging Het
Memo1 A G 17: 74,509,338 (GRCm39) L227S probably damaging Het
Mettl27 T A 5: 134,964,657 (GRCm39) V138E probably damaging Het
Mov10 G T 3: 104,708,328 (GRCm39) L474I probably damaging Het
Nat10 T C 2: 103,557,098 (GRCm39) N852S probably benign Het
Nfkbie T C 17: 45,870,153 (GRCm39) V166A possibly damaging Het
Nktr T C 9: 121,575,599 (GRCm39) M369T probably damaging Het
Nlrp9a A T 7: 26,258,149 (GRCm39) N589I probably benign Het
Nrn1 G A 13: 36,914,577 (GRCm39) R8C probably benign Het
Nrsn1 A G 13: 25,437,451 (GRCm39) I159T probably damaging Het
Or1e29 A G 11: 73,667,503 (GRCm39) S217P possibly damaging Het
Or2h15 C T 17: 38,441,324 (GRCm39) G253D probably benign Het
Or5p61 A T 7: 107,758,164 (GRCm39) D305E probably benign Het
Or6c88 G A 10: 129,406,584 (GRCm39) G20D probably benign Het
Osbp T A 19: 11,956,031 (GRCm39) D385E probably benign Het
Pan3 T A 5: 147,463,802 (GRCm39) N547K probably damaging Het
Pip4p2 T A 4: 14,892,464 (GRCm39) D109E probably damaging Het
Rad54l2 C A 9: 106,590,671 (GRCm39) R485L probably damaging Het
Rps26 A T 10: 128,461,087 (GRCm39) F101I unknown Het
Sdsl T C 5: 120,598,702 (GRCm39) N138S probably benign Het
Slc28a2b C A 2: 122,353,013 (GRCm39) R453S probably benign Het
Slc39a6 A T 18: 24,717,084 (GRCm39) H649Q probably damaging Het
Snip1 T A 4: 124,965,273 (GRCm39) F226Y probably benign Het
Srrd T C 5: 112,485,322 (GRCm39) T334A unknown Het
St14 C T 9: 31,011,448 (GRCm39) D448N possibly damaging Het
Tmem270 T A 5: 134,930,538 (GRCm39) Q241L probably benign Het
Tubb4b T C 2: 25,114,180 (GRCm39) D41G probably benign Het
Usf3 T C 16: 44,040,368 (GRCm39) M1616T possibly damaging Het
Vmn2r95 A T 17: 18,672,245 (GRCm39) I733F possibly damaging Het
Zfp976 A T 7: 42,262,684 (GRCm39) C385* probably null 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
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'- GCTACTTCAGACACTTACACGC -3'
(R):5'- GAGTGGAGACCTTCAACCAAC -3'

Sequencing Primer
(F):5'- CGCATTTCTAAACAACATAAGTGGG -3'
(R):5'- CTCAAAGGGCACGGCTTCTAATTAC -3'
Posted On 2019-06-26