Incidental Mutation 'IGL03324:Tmf1'
ID 416587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene Name TATA element modulatory factor 1
Synonyms LOC232286, 7030402D04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # IGL03324
Quality Score
Status
Chromosome 6
Chromosomal Location 97129958-97156083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97140614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 754 (R754L)
Ref Sequence ENSEMBL: ENSMUSP00000093325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095664] [ENSMUST00000124173]
AlphaFold B9EKI3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083794
Predicted Effect probably damaging
Transcript: ENSMUST00000095664
AA Change: R754L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: R754L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204190
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,982,261 (GRCm39) E282G probably benign Het
Abca12 T A 1: 71,353,167 (GRCm39) K758N probably benign Het
Acacb A T 5: 114,363,915 (GRCm39) R1459* probably null Het
Aco1 A G 4: 40,186,363 (GRCm39) T592A probably benign Het
Aldh2 C T 5: 121,713,188 (GRCm39) G256D probably benign Het
Apbb2 A T 5: 66,469,500 (GRCm39) probably null Het
Apoe A T 7: 19,430,462 (GRCm39) I260K probably benign Het
Cep89 G A 7: 35,124,078 (GRCm39) probably benign Het
Coq3 A G 4: 21,900,361 (GRCm39) D196G probably benign Het
Crispld2 C T 8: 120,742,110 (GRCm39) R153W probably damaging Het
Enox1 A G 14: 77,852,925 (GRCm39) E397G probably damaging Het
Gpatch1 A G 7: 34,998,705 (GRCm39) Y342H probably damaging Het
Gpatch1 T A 7: 34,993,120 (GRCm39) E575V possibly damaging Het
Grid2 T C 6: 64,406,806 (GRCm39) V722A possibly damaging Het
Hsh2d T C 8: 72,947,356 (GRCm39) F18L probably damaging Het
Htra2 C T 6: 83,030,737 (GRCm39) D190N probably damaging Het
Lrfn2 A G 17: 49,377,915 (GRCm39) N332S probably damaging Het
Naa10 C T X: 72,963,568 (GRCm39) probably null Het
Nlrp4f T C 13: 65,343,042 (GRCm39) E179G possibly damaging Het
Or13p10 T A 4: 118,523,069 (GRCm39) F118L probably benign Het
Or14j1 G A 17: 38,146,165 (GRCm39) G92S probably benign Het
Or4c111 A T 2: 88,843,903 (GRCm39) C168* probably null Het
Prss46 T A 9: 110,678,747 (GRCm39) N46K probably benign Het
Rep15 A C 6: 146,934,163 (GRCm39) M1L possibly damaging Het
Slc10a4 G T 5: 73,169,286 (GRCm39) A105S probably damaging Het
Slc26a9 A T 1: 131,691,748 (GRCm39) T664S probably damaging Het
Stxbp3-ps A T 19: 9,535,714 (GRCm39) noncoding transcript Het
Xcr1 T A 9: 123,685,549 (GRCm39) Y71F probably benign Het
Yars1 C T 4: 129,104,328 (GRCm39) T324I probably benign Het
Zfp106 A G 2: 120,365,868 (GRCm39) S180P 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
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
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
Posted On 2016-08-02