Incidental Mutation 'R7809:Tmf1'
ID 601008
Institutional Source Beutler Lab
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene Name TATA element modulatory factor 1
Synonyms LOC232286, 7030402D04Rik
MMRRC Submission 045864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R7809 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 97129958-97156083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97138420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 833 (N833D)
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: N833D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: N833D

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 silent
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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot13 G A 13: 25,004,779 (GRCm39) T62I probably damaging Het
Adam33 C G 2: 130,893,266 (GRCm39) R779P probably benign Het
Adgrv1 G A 13: 81,676,760 (GRCm39) P2024S possibly damaging Het
Afm A G 5: 90,672,675 (GRCm39) N170S probably damaging Het
Ambn G A 5: 88,615,683 (GRCm39) V371I probably benign Het
Apbb1 G A 7: 105,223,014 (GRCm39) P199L probably benign Het
Axdnd1 A T 1: 156,220,371 (GRCm39) C118* probably null Het
Carf G T 1: 60,183,226 (GRCm39) V443L probably damaging Het
Cfap251 A G 5: 123,402,894 (GRCm39) D459G probably damaging Het
Ckap5 G A 2: 91,436,702 (GRCm39) A1601T probably benign Het
Cnot1 A T 8: 96,478,406 (GRCm39) I973N probably damaging Het
Col11a1 A G 3: 113,890,835 (GRCm39) T391A unknown Het
Cracr2a A T 6: 127,626,925 (GRCm39) M569L probably benign Het
Cspg4 T C 9: 56,797,474 (GRCm39) F1313L probably damaging Het
Cstdc2 A G 2: 148,688,910 (GRCm39) S110P probably damaging Het
Cttnbp2 C A 6: 18,434,289 (GRCm39) R523L probably damaging Het
Cxadr T C 16: 78,130,407 (GRCm39) probably null Het
Dnah17 A T 11: 117,995,462 (GRCm39) M962K probably benign Het
Dnm1 T C 2: 32,243,091 (GRCm39) K44R probably damaging Het
Fat3 T C 9: 15,917,924 (GRCm39) S1500G probably damaging Het
Gad1 T C 2: 70,427,603 (GRCm39) F503S possibly damaging Het
Garin3 A G 11: 46,298,631 (GRCm39) E645G Het
Gm20730 T C 6: 43,058,989 (GRCm39) I15V probably benign Het
Gmppb T G 9: 107,928,654 (GRCm39) *361G probably null Het
Inpp5f T C 7: 128,269,367 (GRCm39) V239A probably damaging Het
Irf4 A T 13: 30,941,415 (GRCm39) Y257F probably benign Het
Kcnma1 T C 14: 23,423,324 (GRCm39) D793G probably benign Het
Kif11 T C 19: 37,373,057 (GRCm39) V92A probably damaging Het
Lrriq1 T C 10: 103,051,678 (GRCm39) K358R probably damaging Het
Mcpt4 T A 14: 56,298,141 (GRCm39) I137F possibly damaging Het
Muc6 T A 7: 141,226,638 (GRCm39) H1358L probably benign Het
Mug1 A T 6: 121,855,944 (GRCm39) M979L possibly damaging Het
Mvb12a C A 8: 71,998,306 (GRCm39) P175T probably benign Het
Myh13 A G 11: 67,241,167 (GRCm39) E848G probably benign Het
Or4c105 A T 2: 88,647,902 (GRCm39) H129L probably damaging Het
Oxnad1 T C 14: 31,822,962 (GRCm39) V231A probably benign Het
Pcdhac1 A G 18: 37,224,009 (GRCm39) N274S possibly damaging Het
Plxnc1 T A 10: 94,630,302 (GRCm39) K1532N probably damaging Het
Polr3e A G 7: 120,523,449 (GRCm39) D14G probably damaging Het
Prex1 A G 2: 166,415,164 (GRCm39) F1432S possibly damaging Het
Prlhr A G 19: 60,456,293 (GRCm39) L91P probably damaging Het
Prom1 C T 5: 44,178,209 (GRCm39) V508I probably benign Het
Rmnd1 T C 10: 4,357,848 (GRCm39) Y387C probably damaging Het
Sall3 T A 18: 81,017,575 (GRCm39) T118S probably benign Het
Sf3b1 A T 1: 55,034,614 (GRCm39) D1015E possibly damaging Het
Sfmbt2 A G 2: 10,398,155 (GRCm39) N12S probably benign Het
Sohlh1 A C 2: 25,735,289 (GRCm39) S198A probably benign Het
Sorbs2 T C 8: 46,198,465 (GRCm39) S38P possibly damaging Het
Spata21 G A 4: 140,831,354 (GRCm39) A434T probably null Het
Stard13 T A 5: 151,113,489 (GRCm39) Q24L probably damaging Het
Syne2 G T 12: 76,014,230 (GRCm39) M3140I probably benign Het
Tango6 T C 8: 107,415,926 (GRCm39) probably null Het
Tdrd9 G A 12: 111,999,155 (GRCm39) G757R probably damaging Het
Thada A C 17: 84,759,265 (GRCm39) V198G possibly damaging Het
Trav7-3 T C 14: 53,681,072 (GRCm39) M38T probably benign Het
Ttc38 A C 15: 85,722,939 (GRCm39) Q129P possibly damaging Het
Uox A T 3: 146,333,613 (GRCm39) K271* probably null Het
Urgcp A T 11: 5,673,133 (GRCm39) D47E probably benign Het
Usp17lb A G 7: 104,490,420 (GRCm39) I169T probably damaging Het
Wdr75 T C 1: 45,862,596 (GRCm39) I805T probably benign Het
Zfp131 A G 13: 120,250,446 (GRCm39) F59S probably damaging Het
Zfp383 G A 7: 29,609,661 (GRCm39) A21T possibly damaging Het
Zfp810 T C 9: 22,190,278 (GRCm39) Y210C possibly damaging Het
Zfp871 A G 17: 32,993,826 (GRCm39) C450R probably damaging 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
R7058:Tmf1 UTSW 6 97,133,911 (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
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'- TCTCCATGCAATGAAAGGAAGAC -3'
(R):5'- GCAATGCTGGCTTCTTGTC -3'

Sequencing Primer
(F):5'- TGCAATGAAAGGAAGACCCAAC -3'
(R):5'- GTCTAAGTCTGGAAACTTGAGTCAC -3'
Posted On 2019-11-26