Incidental Mutation 'R4416:Tmf1'
ID 326837
Institutional Source Beutler Lab
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene Name TATA element modulatory factor 1
Synonyms LOC232286, 7030402D04Rik
MMRRC Submission 041137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R4416 (G1)
Quality Score 135
Status Not validated
Chromosome 6
Chromosomal Location 97129958-97156083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 97155949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 12 (F12L)
Ref Sequence ENSEMBL: ENSMUSP00000120093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095664] [ENSMUST00000124173] [ENSMUST00000164744] [ENSMUST00000204056]
AlphaFold B9EKI3
Predicted Effect probably damaging
Transcript: ENSMUST00000095664
AA Change: F12L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: F12L

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 damaging
Transcript: ENSMUST00000124173
AA Change: F12L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059
AA Change: F12L

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
Predicted Effect probably benign
Transcript: ENSMUST00000164744
SMART Domains Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061

DomainStartEndE-ValueType
Pfam:ThiF 54 199 1.5e-41 PFAM
Pfam:UBA_e1_thiolCys 202 248 8.7e-15 PFAM
Pfam:UBACT 255 321 9e-25 PFAM
E2_bind 360 448 1.02e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204056
SMART Domains Protein: ENSMUSP00000145309
Gene: ENSMUSG00000030061

DomainStartEndE-ValueType
low complexity region 5 56 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,272 (GRCm39) E56V possibly damaging Het
Adam28 A G 14: 68,859,531 (GRCm39) probably null Het
Bnc1 G T 7: 81,618,708 (GRCm39) H786N probably benign Het
Cav1 T A 6: 17,339,248 (GRCm39) M100K probably benign Het
Cdk9 A G 2: 32,598,084 (GRCm39) L273P probably damaging Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cyp2c54 T C 19: 40,026,703 (GRCm39) Q484R probably benign Het
Elfn1 T C 5: 139,957,949 (GRCm39) S318P possibly damaging Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Fhip2a G T 19: 57,373,829 (GRCm39) probably null Het
Frmd6 T A 12: 70,924,023 (GRCm39) Y94N probably benign Het
Gdpd1 A T 11: 86,926,114 (GRCm39) V277D probably benign Het
Grik1 C A 16: 87,848,349 (GRCm39) V140L probably benign Het
Grpel1 A G 5: 36,628,616 (GRCm39) H175R probably damaging Het
Gtdc1 G T 2: 44,465,602 (GRCm39) probably null Het
Hivep2 A T 10: 14,004,914 (GRCm39) Q504L probably benign Het
Icos A T 1: 61,033,849 (GRCm39) I160L probably benign Het
Igsf9b G T 9: 27,234,213 (GRCm39) C442F probably damaging Het
Itga10 T C 3: 96,565,562 (GRCm39) V1062A possibly damaging Het
Lrp1b C T 2: 40,553,679 (GRCm39) V386I unknown Het
Lrp2 G T 2: 69,357,575 (GRCm39) F409L probably benign Het
Nadk T G 4: 155,672,183 (GRCm39) Y291* probably null Het
Nudt6 A T 3: 37,459,378 (GRCm39) probably null Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or2ag1b G A 7: 106,288,218 (GRCm39) T240I probably benign Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Or8d6 A G 9: 39,853,724 (GRCm39) H56R probably damaging Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pds5b C T 5: 150,659,861 (GRCm39) P275S probably damaging Het
Pdzd7 T A 19: 45,029,019 (GRCm39) E117V probably damaging Het
Pik3ca T C 3: 32,515,679 (GRCm39) V784A probably damaging Het
Polr3e T C 7: 120,538,280 (GRCm39) probably null Het
Rab3gap2 A T 1: 185,014,544 (GRCm39) D1231V probably benign Het
Rapgef2 C A 3: 78,976,364 (GRCm39) G1481* probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rrm1 A G 7: 102,097,008 (GRCm39) D96G probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Srp9 A T 1: 181,958,976 (GRCm39) M50L probably benign Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Sult1d1 A G 5: 87,706,435 (GRCm39) F169S probably damaging Het
Tmem63c C G 12: 87,128,676 (GRCm39) T567R probably benign Het
Ush2a T C 1: 188,089,071 (GRCm39) I342T probably damaging Het
Veph1 A T 3: 65,968,606 (GRCm39) N712K probably damaging Het
Vti1a T G 19: 55,369,380 (GRCm39) S91A 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
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
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'- GAAGACGCCTAGCAATTGGG -3'
(R):5'- GTTGAGAACGGCCATGAAGC -3'

Sequencing Primer
(F):5'- ACGCCTAGCAATTGGGGATCTG -3'
(R):5'- TGGTAACTAAGGGCTCCGCTC -3'
Posted On 2015-07-07