Incidental Mutation 'IGL02550:Tmf1'
ID 298011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene Name TATA element modulatory factor 1
Synonyms 7030402D04Rik, LOC232286
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # IGL02550
Quality Score
Status
Chromosome 6
Chromosomal Location 97152997-97179122 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97158561 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 918 (D918G)
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 benign
Transcript: ENSMUST00000095664
AA Change: D918G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: D918G

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik T G 15: 74,880,755 (GRCm38) H24P probably damaging Het
Acadl A G 1: 66,845,166 (GRCm38) probably null Het
Acer3 G A 7: 98,223,978 (GRCm38) T171I probably benign Het
Acsm2 C T 7: 119,573,284 (GRCm38) P117S probably damaging Het
Anxa2 A G 9: 69,467,306 (GRCm38) S22G probably benign Het
Arrb2 T C 11: 70,436,870 (GRCm38) I120T probably damaging Het
Atp11a G T 8: 12,816,997 (GRCm38) K141N possibly damaging Het
Casd1 T C 6: 4,642,009 (GRCm38) V762A probably benign Het
Ccdc61 A T 7: 18,893,302 (GRCm38) S48T probably benign Het
Cntn2 T C 1: 132,529,063 (GRCm38) M82V probably null Het
Cobll1 A G 2: 65,107,863 (GRCm38) S359P probably damaging Het
Ctnnbl1 C A 2: 157,884,135 (GRCm38) D465E probably benign Het
Def6 A T 17: 28,228,261 (GRCm38) E622V probably benign Het
Dmgdh T C 13: 93,717,575 (GRCm38) Y678H probably damaging Het
Dock9 A T 14: 121,698,312 (GRCm38) M1K probably null Het
Esyt1 T C 10: 128,522,093 (GRCm38) K216E probably damaging Het
Fhod3 A G 18: 25,022,960 (GRCm38) D545G probably benign Het
Galnt12 A T 4: 47,104,126 (GRCm38) D128V possibly damaging Het
Gm1110 C T 9: 26,881,834 (GRCm38) V549I probably benign Het
Gm1966 A T 7: 106,601,639 (GRCm38) noncoding transcript Het
Gm7361 A G 5: 26,261,122 (GRCm38) I161V possibly damaging Het
Gsn T C 2: 35,282,607 (GRCm38) probably benign Het
Il16 T A 7: 83,674,496 (GRCm38) Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 (GRCm38) D67G probably benign Het
Insrr T C 3: 87,804,498 (GRCm38) L515P probably damaging Het
Jhy A G 9: 40,917,170 (GRCm38) F480S probably benign Het
Klc4 C A 17: 46,636,910 (GRCm38) probably null Het
Klhl12 G T 1: 134,467,705 (GRCm38) C135F possibly damaging Het
Mboat7 G T 7: 3,683,906 (GRCm38) probably null Het
Myo1f G A 17: 33,588,142 (GRCm38) D522N probably damaging Het
Myo1f A G 17: 33,580,150 (GRCm38) probably benign Het
Nbea C A 3: 56,019,414 (GRCm38) M789I probably damaging Het
Ncapd2 T C 6: 125,177,447 (GRCm38) D602G probably benign Het
Ncaph2 A T 15: 89,369,861 (GRCm38) K344* probably null Het
Nek2 A G 1: 191,822,259 (GRCm38) Y70C probably damaging Het
Olfr1277 T A 2: 111,270,004 (GRCm38) D121V probably damaging Het
Olfr1281 T C 2: 111,328,500 (GRCm38) L27P probably damaging Het
Olfr31 T C 14: 14,328,423 (GRCm38) L104P possibly damaging Het
Olfr857 C A 9: 19,713,047 (GRCm38) F73L possibly damaging Het
Olfr955 T A 9: 39,470,546 (GRCm38) Y60F probably benign Het
Olfr992 G A 2: 85,399,822 (GRCm38) A237V probably damaging Het
Plcb3 T A 19: 6,960,176 (GRCm38) K625* probably null Het
Plrg1 T C 3: 83,061,123 (GRCm38) probably null Het
Ptpn12 A G 5: 20,998,139 (GRCm38) V547A probably benign Het
Ralgapb A G 2: 158,448,411 (GRCm38) D748G probably damaging Het
Rcbtb2 A G 14: 73,162,019 (GRCm38) E41G probably damaging Het
Rela G T 19: 5,641,506 (GRCm38) R236L possibly damaging Het
Rps6kc1 A G 1: 190,871,862 (GRCm38) S188P probably damaging Het
Sipa1l1 A T 12: 82,440,949 (GRCm38) K1666* probably null Het
Slco1a1 C T 6: 141,943,465 (GRCm38) M40I probably benign Het
Smarca4 C A 9: 21,686,122 (GRCm38) P1391Q probably benign Het
Stra6 A G 9: 58,150,083 (GRCm38) N392S possibly damaging Het
Syt4 A G 18: 31,444,193 (GRCm38) I36T probably damaging Het
Tgfbr2 A T 9: 116,110,129 (GRCm38) M235K probably benign Het
Tmem87a T A 2: 120,374,485 (GRCm38) probably null Het
Tnfaip2 A G 12: 111,446,101 (GRCm38) Y312C probably damaging Het
Usp47 C T 7: 112,104,354 (GRCm38) R1178C probably damaging Het
Vmn2r95 T A 17: 18,451,732 (GRCm38) I577N probably damaging Het
Vps13b T C 15: 35,572,096 (GRCm38) V953A probably benign Het
Wasl A G 6: 24,633,884 (GRCm38) F127S probably damaging Het
Wdr1 C T 5: 38,540,863 (GRCm38) V192I probably damaging Het
Wnt9a C T 11: 59,330,918 (GRCm38) T214I probably damaging Het
Xpo5 A G 17: 46,229,329 (GRCm38) D693G probably benign Het
Zan A G 5: 137,387,039 (GRCm38) L5044P unknown Het
Zhx3 T C 2: 160,781,296 (GRCm38) N317S probably damaging Het
Other mutations in Tmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Tmf1 APN 6 97,176,494 (GRCm38) missense probably benign 0.00
IGL00846:Tmf1 APN 6 97,173,316 (GRCm38) missense possibly damaging 0.88
IGL01575:Tmf1 APN 6 97,175,936 (GRCm38) missense probably damaging 1.00
IGL01922:Tmf1 APN 6 97,176,930 (GRCm38) missense probably benign 0.00
IGL02675:Tmf1 APN 6 97,164,042 (GRCm38) splice site probably benign
IGL02985:Tmf1 APN 6 97,176,809 (GRCm38) missense probably damaging 1.00
IGL03324:Tmf1 APN 6 97,163,653 (GRCm38) missense probably damaging 0.99
caddy UTSW 6 97,161,447 (GRCm38) nonsense probably null
R0028:Tmf1 UTSW 6 97,158,098 (GRCm38) missense probably damaging 1.00
R0153:Tmf1 UTSW 6 97,170,384 (GRCm38) missense probably damaging 0.97
R0325:Tmf1 UTSW 6 97,176,504 (GRCm38) missense possibly damaging 0.51
R0420:Tmf1 UTSW 6 97,176,141 (GRCm38) missense probably damaging 1.00
R0730:Tmf1 UTSW 6 97,176,492 (GRCm38) missense probably benign
R0825:Tmf1 UTSW 6 97,175,995 (GRCm38) missense probably benign
R0827:Tmf1 UTSW 6 97,158,050 (GRCm38) nonsense probably null
R0839:Tmf1 UTSW 6 97,176,323 (GRCm38) missense probably damaging 1.00
R1078:Tmf1 UTSW 6 97,173,300 (GRCm38) missense probably damaging 1.00
R1905:Tmf1 UTSW 6 97,161,479 (GRCm38) missense possibly damaging 0.53
R2274:Tmf1 UTSW 6 97,163,586 (GRCm38) missense probably damaging 1.00
R3701:Tmf1 UTSW 6 97,172,331 (GRCm38) missense possibly damaging 0.51
R3953:Tmf1 UTSW 6 97,176,206 (GRCm38) missense probably damaging 0.99
R3955:Tmf1 UTSW 6 97,176,206 (GRCm38) missense probably damaging 0.99
R4398:Tmf1 UTSW 6 97,178,896 (GRCm38) missense probably damaging 0.99
R4416:Tmf1 UTSW 6 97,178,988 (GRCm38) missense probably damaging 1.00
R4497:Tmf1 UTSW 6 97,172,332 (GRCm38) missense probably benign 0.00
R4592:Tmf1 UTSW 6 97,173,400 (GRCm38) missense probably benign 0.00
R4669:Tmf1 UTSW 6 97,170,427 (GRCm38) missense probably benign 0.00
R5214:Tmf1 UTSW 6 97,167,292 (GRCm38) missense possibly damaging 0.81
R5352:Tmf1 UTSW 6 97,176,809 (GRCm38) missense probably damaging 1.00
R5530:Tmf1 UTSW 6 97,158,087 (GRCm38) missense probably damaging 1.00
R5815:Tmf1 UTSW 6 97,173,403 (GRCm38) missense probably benign 0.28
R6806:Tmf1 UTSW 6 97,161,447 (GRCm38) nonsense probably null
R6837:Tmf1 UTSW 6 97,176,581 (GRCm38) missense possibly damaging 0.76
R6853:Tmf1 UTSW 6 97,168,849 (GRCm38) missense probably damaging 0.99
R6887:Tmf1 UTSW 6 97,176,838 (GRCm38) missense probably damaging 1.00
R7058:Tmf1 UTSW 6 97,156,950 (GRCm38) missense probably damaging 1.00
R7145:Tmf1 UTSW 6 97,176,118 (GRCm38) missense probably damaging 1.00
R7340:Tmf1 UTSW 6 97,168,100 (GRCm38) missense possibly damaging 0.81
R7573:Tmf1 UTSW 6 97,158,494 (GRCm38) missense probably benign 0.14
R7809:Tmf1 UTSW 6 97,161,459 (GRCm38) missense probably damaging 0.99
R7833:Tmf1 UTSW 6 97,161,411 (GRCm38) missense probably benign 0.06
R8728:Tmf1 UTSW 6 97,156,860 (GRCm38) missense probably damaging 1.00
R9004:Tmf1 UTSW 6 97,175,777 (GRCm38) missense probably benign 0.14
R9425:Tmf1 UTSW 6 97,172,332 (GRCm38) missense probably benign 0.00
R9436:Tmf1 UTSW 6 97,176,656 (GRCm38) missense probably benign 0.05
R9454:Tmf1 UTSW 6 97,178,905 (GRCm38) missense probably benign 0.00
R9458:Tmf1 UTSW 6 97,176,421 (GRCm38) missense probably benign 0.00
R9490:Tmf1 UTSW 6 97,160,266 (GRCm38) missense probably benign 0.00
R9544:Tmf1 UTSW 6 97,170,332 (GRCm38) missense possibly damaging 0.92
R9558:Tmf1 UTSW 6 97,170,332 (GRCm38) missense possibly damaging 0.92
R9560:Tmf1 UTSW 6 97,170,332 (GRCm38) missense possibly damaging 0.92
R9595:Tmf1 UTSW 6 97,158,496 (GRCm38) missense probably damaging 0.99
Posted On 2015-04-16