Incidental Mutation 'R7058:Tmf1'
ID 548053
Institutional Source Beutler Lab
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene Name TATA element modulatory factor 1
Synonyms LOC232286, 7030402D04Rik
MMRRC Submission 045155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R7058 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 97129958-97156083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97133911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1009 (E1009V)
Ref Sequence ENSEMBL: ENSMUSP00000093325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095664] [ENSMUST00000124173]
AlphaFold B9EKI3
Predicted Effect probably damaging
Transcript: ENSMUST00000095664
AA Change: E1009V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: E1009V

DomainStartEndE-ValueType
low complexity region 111 122 N/A INTRINSIC
low complexity region 131 142 N/A INTRINSIC
low complexity region 194 211 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
low complexity region 367 381 N/A INTRINSIC
low complexity region 410 426 N/A INTRINSIC
coiled coil region 443 536 N/A INTRINSIC
Pfam:TMF_DNA_bd 540 613 5e-24 PFAM
low complexity region 697 715 N/A INTRINSIC
low complexity region 719 732 N/A INTRINSIC
low complexity region 803 821 N/A INTRINSIC
coiled coil region 823 894 N/A INTRINSIC
low complexity region 923 937 N/A INTRINSIC
Pfam:TMF_TATA_bd 972 1085 1.5e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124173
SMART Domains Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059

DomainStartEndE-ValueType
low complexity region 111 122 N/A INTRINSIC
low complexity region 131 142 N/A INTRINSIC
low complexity region 194 211 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
low complexity region 367 381 N/A INTRINSIC
low complexity region 410 426 N/A INTRINSIC
coiled coil region 443 536 N/A INTRINSIC
Pfam:TMF_DNA_bd 540 613 1.4e-24 PFAM
low complexity region 697 715 N/A INTRINSIC
low complexity region 719 732 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (87/87)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with decreased testis weight, globozoospermia, absent acrosome, asthenozoospermia, and abnormal sperm midpiece morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,554 (GRCm39) I419T possibly damaging Het
Afap1 T C 5: 36,119,604 (GRCm39) V294A probably benign Het
Amotl1 T A 9: 14,486,532 (GRCm39) Q454L possibly damaging Het
Ap2a1 T C 7: 44,550,215 (GRCm39) S961G probably damaging Het
Asxl3 A G 18: 22,650,731 (GRCm39) K907E probably damaging Het
BC028528 A T 3: 95,792,323 (GRCm39) L137I possibly damaging Het
Cand1 A T 10: 119,047,659 (GRCm39) N610K probably benign Het
Cat A G 2: 103,304,698 (GRCm39) I109T probably benign Het
Ccdc18 T C 5: 108,341,664 (GRCm39) V853A probably benign Het
Chd4 C A 6: 125,085,405 (GRCm39) D805E possibly damaging Het
Cnih1 A C 14: 47,017,652 (GRCm39) F77V probably damaging Het
Cntd1 A T 11: 101,178,252 (GRCm39) I284F probably damaging Het
Col6a3 C A 1: 90,755,759 (GRCm39) E177* probably null Het
Cpxm2 T A 7: 131,745,408 (GRCm39) D139V probably benign Het
Cyp1a2 G T 9: 57,584,525 (GRCm39) R510S probably damaging Het
D2hgdh T C 1: 93,763,096 (GRCm39) S294P probably damaging Het
Dchs1 A G 7: 105,406,228 (GRCm39) C2335R probably benign Het
Disc1 G T 8: 125,977,724 (GRCm39) C719F probably damaging Het
Dnah14 A C 1: 181,525,614 (GRCm39) D2180A probably benign Het
Dop1b G A 16: 93,573,878 (GRCm39) R1582Q probably benign Het
Dsg2 A T 18: 20,725,332 (GRCm39) H481L probably benign Het
Epha6 A G 16: 59,503,013 (GRCm39) S965P probably damaging Het
Esrrg G T 1: 187,882,503 (GRCm39) L253F probably damaging Het
Exoc6b T C 6: 84,831,704 (GRCm39) K438R probably damaging Het
Fam98a C A 17: 75,845,384 (GRCm39) R454L unknown Het
Fam98c A T 7: 28,855,308 (GRCm39) probably null Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Galnt13 A G 2: 54,988,587 (GRCm39) T470A probably damaging Het
Ggt7 A T 2: 155,345,015 (GRCm39) probably null Het
Golim4 T C 3: 75,785,957 (GRCm39) E606G probably damaging Het
Gpd2 G A 2: 57,197,112 (GRCm39) probably null Het
Grin2b T C 6: 135,757,304 (GRCm39) M386V probably damaging Het
Hfm1 A T 5: 107,059,306 (GRCm39) S239T probably benign Het
Hmcn1 G A 1: 150,649,641 (GRCm39) T615I probably benign Het
Hook2 G A 8: 85,724,040 (GRCm39) E446K possibly damaging Het
Hsd3b1 C T 3: 98,765,131 (GRCm39) probably null Het
Igsf9b A G 9: 27,234,150 (GRCm39) Y421C probably damaging Het
Il21 A G 3: 37,286,629 (GRCm39) L29P probably damaging Het
Ildr1 A G 16: 36,542,730 (GRCm39) S421G probably benign Het
Kat2b C A 17: 53,972,894 (GRCm39) T736K probably benign Het
Kcng1 A G 2: 168,104,529 (GRCm39) V439A probably damaging Het
Kif21a A T 15: 90,833,106 (GRCm39) probably null Het
Lat A G 7: 125,968,318 (GRCm39) probably null Het
Mastl T A 2: 23,023,425 (GRCm39) K433* probably null Het
Mettl2 A G 11: 105,019,719 (GRCm39) R119G probably benign Het
Mia2 C T 12: 59,231,021 (GRCm39) P1223L possibly damaging Het
Mkrn2os G T 6: 115,563,635 (GRCm39) D133E probably benign Het
Mslnl A G 17: 25,962,186 (GRCm39) T195A probably benign Het
Muc16 T G 9: 18,551,051 (GRCm39) T5081P probably benign Het
Mylpf G C 7: 126,813,139 (GRCm39) R110P probably damaging Het
Myo19 G T 11: 84,798,194 (GRCm39) C738F possibly damaging Het
Nat8f4 T A 6: 85,878,271 (GRCm39) N84I possibly damaging Het
Nol8 C T 13: 49,829,862 (GRCm39) R1104C probably damaging Het
Notch1 A T 2: 26,353,830 (GRCm39) D1932E probably benign Het
Nsun3 A T 16: 62,596,663 (GRCm39) C152S possibly damaging Het
Opcml G A 9: 28,586,507 (GRCm39) W75* probably null Het
Or14j10 A G 17: 37,934,597 (GRCm39) F310L probably benign Het
Pcdh7 G A 5: 57,879,582 (GRCm39) E1046K probably damaging Het
Pcdhb9 T A 18: 37,536,334 (GRCm39) V776D probably benign Het
Pla2g4a A G 1: 149,727,103 (GRCm39) L551S probably damaging Het
Plaa G A 4: 94,458,060 (GRCm39) Q637* probably null Het
Plekhh1 A T 12: 79,122,204 (GRCm39) E1099V probably damaging Het
Ppp4r1 A T 17: 66,136,495 (GRCm39) N551Y probably benign Het
R3hdm2 T C 10: 127,320,382 (GRCm39) V554A probably damaging Het
Rab44 A G 17: 29,357,150 (GRCm39) probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasgrf2 T C 13: 92,034,521 (GRCm39) T1119A probably damaging Het
Rims2 A G 15: 39,449,044 (GRCm39) D1194G probably damaging Het
Scarb1 A T 5: 125,374,294 (GRCm39) C280S probably damaging Het
Sde2 T C 1: 180,693,827 (GRCm39) F439S probably damaging Het
Setd5 T C 6: 113,092,532 (GRCm39) I304T probably benign Het
Sipa1l1 A G 12: 82,449,896 (GRCm39) E1106G probably benign Het
Sis T G 3: 72,810,940 (GRCm39) S1694R probably damaging Het
Smad9 T A 3: 54,693,614 (GRCm39) F181Y probably benign Het
Smg1 A G 7: 117,797,502 (GRCm39) probably benign Het
Sspo T C 6: 48,425,516 (GRCm39) Y46H probably damaging Het
Tdrd12 A G 7: 35,177,534 (GRCm39) M940T unknown Het
Tmem44 G T 16: 30,366,213 (GRCm39) T71K possibly damaging Het
Ttc39a C T 4: 109,288,763 (GRCm39) R288W probably damaging Het
Ttc9c G A 19: 8,796,191 (GRCm39) probably benign Het
Usp28 T A 9: 48,950,456 (GRCm39) Y634N probably damaging Het
Vmn1r211 C T 13: 23,036,063 (GRCm39) M201I probably benign Het
Vmn2r54 T A 7: 12,349,722 (GRCm39) Q620L possibly damaging Het
Vps13c T C 9: 67,831,110 (GRCm39) L1580P probably benign Het
Vrk3 C A 7: 44,417,890 (GRCm39) F308L probably damaging Het
Zdbf2 T A 1: 63,346,563 (GRCm39) H1647Q possibly damaging Het
Zfp984 A T 4: 147,840,002 (GRCm39) M283K probably benign Het
Other mutations in Tmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Tmf1 APN 6 97,153,455 (GRCm39) missense probably benign 0.00
IGL00846:Tmf1 APN 6 97,150,277 (GRCm39) missense possibly damaging 0.88
IGL01575:Tmf1 APN 6 97,152,897 (GRCm39) missense probably damaging 1.00
IGL01922:Tmf1 APN 6 97,153,891 (GRCm39) missense probably benign 0.00
IGL02550:Tmf1 APN 6 97,135,522 (GRCm39) missense probably benign 0.28
IGL02675:Tmf1 APN 6 97,141,003 (GRCm39) splice site probably benign
IGL02985:Tmf1 APN 6 97,153,770 (GRCm39) missense probably damaging 1.00
IGL03324:Tmf1 APN 6 97,140,614 (GRCm39) missense probably damaging 0.99
caddy UTSW 6 97,138,408 (GRCm39) nonsense probably null
R0028:Tmf1 UTSW 6 97,135,059 (GRCm39) missense probably damaging 1.00
R0153:Tmf1 UTSW 6 97,147,345 (GRCm39) missense probably damaging 0.97
R0325:Tmf1 UTSW 6 97,153,465 (GRCm39) missense possibly damaging 0.51
R0420:Tmf1 UTSW 6 97,153,102 (GRCm39) missense probably damaging 1.00
R0730:Tmf1 UTSW 6 97,153,453 (GRCm39) missense probably benign
R0825:Tmf1 UTSW 6 97,152,956 (GRCm39) missense probably benign
R0827:Tmf1 UTSW 6 97,135,011 (GRCm39) nonsense probably null
R0839:Tmf1 UTSW 6 97,153,284 (GRCm39) missense probably damaging 1.00
R1078:Tmf1 UTSW 6 97,150,261 (GRCm39) missense probably damaging 1.00
R1905:Tmf1 UTSW 6 97,138,440 (GRCm39) missense possibly damaging 0.53
R2274:Tmf1 UTSW 6 97,140,547 (GRCm39) missense probably damaging 1.00
R3701:Tmf1 UTSW 6 97,149,292 (GRCm39) missense possibly damaging 0.51
R3953:Tmf1 UTSW 6 97,153,167 (GRCm39) missense probably damaging 0.99
R3955:Tmf1 UTSW 6 97,153,167 (GRCm39) missense probably damaging 0.99
R4398:Tmf1 UTSW 6 97,155,857 (GRCm39) missense probably damaging 0.99
R4416:Tmf1 UTSW 6 97,155,949 (GRCm39) missense probably damaging 1.00
R4497:Tmf1 UTSW 6 97,149,293 (GRCm39) missense probably benign 0.00
R4592:Tmf1 UTSW 6 97,150,361 (GRCm39) missense probably benign 0.00
R4669:Tmf1 UTSW 6 97,147,388 (GRCm39) missense probably benign 0.00
R5214:Tmf1 UTSW 6 97,144,253 (GRCm39) missense possibly damaging 0.81
R5352:Tmf1 UTSW 6 97,153,770 (GRCm39) missense probably damaging 1.00
R5530:Tmf1 UTSW 6 97,135,048 (GRCm39) missense probably damaging 1.00
R5815:Tmf1 UTSW 6 97,150,364 (GRCm39) missense probably benign 0.28
R6806:Tmf1 UTSW 6 97,138,408 (GRCm39) nonsense probably null
R6837:Tmf1 UTSW 6 97,153,542 (GRCm39) missense possibly damaging 0.76
R6853:Tmf1 UTSW 6 97,145,810 (GRCm39) missense probably damaging 0.99
R6887:Tmf1 UTSW 6 97,153,799 (GRCm39) missense probably damaging 1.00
R7145:Tmf1 UTSW 6 97,153,079 (GRCm39) missense probably damaging 1.00
R7340:Tmf1 UTSW 6 97,145,061 (GRCm39) missense possibly damaging 0.81
R7573:Tmf1 UTSW 6 97,135,455 (GRCm39) missense probably benign 0.14
R7809:Tmf1 UTSW 6 97,138,420 (GRCm39) missense probably damaging 0.99
R7833:Tmf1 UTSW 6 97,138,372 (GRCm39) missense probably benign 0.06
R8728:Tmf1 UTSW 6 97,133,821 (GRCm39) missense probably damaging 1.00
R9004:Tmf1 UTSW 6 97,152,738 (GRCm39) missense probably benign 0.14
R9425:Tmf1 UTSW 6 97,149,293 (GRCm39) missense probably benign 0.00
R9436:Tmf1 UTSW 6 97,153,617 (GRCm39) missense probably benign 0.05
R9454:Tmf1 UTSW 6 97,155,866 (GRCm39) missense probably benign 0.00
R9458:Tmf1 UTSW 6 97,153,382 (GRCm39) missense probably benign 0.00
R9490:Tmf1 UTSW 6 97,137,227 (GRCm39) missense probably benign 0.00
R9544:Tmf1 UTSW 6 97,147,293 (GRCm39) missense possibly damaging 0.92
R9558:Tmf1 UTSW 6 97,147,293 (GRCm39) missense possibly damaging 0.92
R9560:Tmf1 UTSW 6 97,147,293 (GRCm39) missense possibly damaging 0.92
R9595:Tmf1 UTSW 6 97,135,457 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCAATGGATTCATCTCTAACATTC -3'
(R):5'- CTAAAGAAAGTTGGGGCCCC -3'

Sequencing Primer
(F):5'- AGAGGGCGTCAGATCTCGTTAC -3'
(R):5'- GAAAGTTGGGGCCCCCTTTTTC -3'
Posted On 2019-05-13