Incidental Mutation 'IGL02550:Tmf1'
ID298011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene NameTATA element modulatory factor 1
Synonyms7030402D04Rik, LOC232286
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL02550
Quality Score
Status
Chromosome6
Chromosomal Location97152997-97179122 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97158561 bp
ZygosityHeterozygous
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]
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 H24P probably damaging Het
Acadl A G 1: 66,845,166 probably null Het
Acer3 G A 7: 98,223,978 T171I probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Anxa2 A G 9: 69,467,306 S22G probably benign Het
Arrb2 T C 11: 70,436,870 I120T probably damaging Het
Atp11a G T 8: 12,816,997 K141N possibly damaging Het
Casd1 T C 6: 4,642,009 V762A probably benign Het
Ccdc61 A T 7: 18,893,302 S48T probably benign Het
Cntn2 T C 1: 132,529,063 M82V probably null Het
Cobll1 A G 2: 65,107,863 S359P probably damaging Het
Ctnnbl1 C A 2: 157,884,135 D465E probably benign Het
Def6 A T 17: 28,228,261 E622V probably benign Het
Dmgdh T C 13: 93,717,575 Y678H probably damaging Het
Dock9 A T 14: 121,698,312 M1K probably null Het
Esyt1 T C 10: 128,522,093 K216E probably damaging Het
Fhod3 A G 18: 25,022,960 D545G probably benign Het
Galnt12 A T 4: 47,104,126 D128V possibly damaging Het
Gm1110 C T 9: 26,881,834 V549I probably benign Het
Gm1966 A T 7: 106,601,639 noncoding transcript Het
Gm7361 A G 5: 26,261,122 I161V possibly damaging Het
Gsn T C 2: 35,282,607 probably benign Het
Il16 T A 7: 83,674,496 Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 D67G probably benign Het
Insrr T C 3: 87,804,498 L515P probably damaging Het
Jhy A G 9: 40,917,170 F480S probably benign Het
Klc4 C A 17: 46,636,910 probably null Het
Klhl12 G T 1: 134,467,705 C135F possibly damaging Het
Mboat7 G T 7: 3,683,906 probably null Het
Myo1f A G 17: 33,580,150 probably benign Het
Myo1f G A 17: 33,588,142 D522N probably damaging Het
Nbea C A 3: 56,019,414 M789I probably damaging Het
Ncapd2 T C 6: 125,177,447 D602G probably benign Het
Ncaph2 A T 15: 89,369,861 K344* probably null Het
Nek2 A G 1: 191,822,259 Y70C probably damaging Het
Olfr1277 T A 2: 111,270,004 D121V probably damaging Het
Olfr1281 T C 2: 111,328,500 L27P probably damaging Het
Olfr31 T C 14: 14,328,423 L104P possibly damaging Het
Olfr857 C A 9: 19,713,047 F73L possibly damaging Het
Olfr955 T A 9: 39,470,546 Y60F probably benign Het
Olfr992 G A 2: 85,399,822 A237V probably damaging Het
Plcb3 T A 19: 6,960,176 K625* probably null Het
Plrg1 T C 3: 83,061,123 probably null Het
Ptpn12 A G 5: 20,998,139 V547A probably benign Het
Ralgapb A G 2: 158,448,411 D748G probably damaging Het
Rcbtb2 A G 14: 73,162,019 E41G probably damaging Het
Rela G T 19: 5,641,506 R236L possibly damaging Het
Rps6kc1 A G 1: 190,871,862 S188P probably damaging Het
Sipa1l1 A T 12: 82,440,949 K1666* probably null Het
Slco1a1 C T 6: 141,943,465 M40I probably benign Het
Smarca4 C A 9: 21,686,122 P1391Q probably benign Het
Stra6 A G 9: 58,150,083 N392S possibly damaging Het
Syt4 A G 18: 31,444,193 I36T probably damaging Het
Tgfbr2 A T 9: 116,110,129 M235K probably benign Het
Tmem87a T A 2: 120,374,485 probably null Het
Tnfaip2 A G 12: 111,446,101 Y312C probably damaging Het
Usp47 C T 7: 112,104,354 R1178C probably damaging Het
Vmn2r95 T A 17: 18,451,732 I577N probably damaging Het
Vps13b T C 15: 35,572,096 V953A probably benign Het
Wasl A G 6: 24,633,884 F127S probably damaging Het
Wdr1 C T 5: 38,540,863 V192I probably damaging Het
Wnt9a C T 11: 59,330,918 T214I probably damaging Het
Xpo5 A G 17: 46,229,329 D693G probably benign Het
Zan A G 5: 137,387,039 L5044P unknown Het
Zhx3 T C 2: 160,781,296 N317S probably damaging Het
Other mutations in Tmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Tmf1 APN 6 97176494 missense probably benign 0.00
IGL00846:Tmf1 APN 6 97173316 missense possibly damaging 0.88
IGL01575:Tmf1 APN 6 97175936 missense probably damaging 1.00
IGL01922:Tmf1 APN 6 97176930 missense probably benign 0.00
IGL02675:Tmf1 APN 6 97164042 splice site probably benign
IGL02985:Tmf1 APN 6 97176809 missense probably damaging 1.00
IGL03324:Tmf1 APN 6 97163653 missense probably damaging 0.99
caddy UTSW 6 97161447 nonsense probably null
R0028:Tmf1 UTSW 6 97158098 missense probably damaging 1.00
R0153:Tmf1 UTSW 6 97170384 missense probably damaging 0.97
R0325:Tmf1 UTSW 6 97176504 missense possibly damaging 0.51
R0420:Tmf1 UTSW 6 97176141 missense probably damaging 1.00
R0730:Tmf1 UTSW 6 97176492 missense probably benign
R0825:Tmf1 UTSW 6 97175995 missense probably benign
R0827:Tmf1 UTSW 6 97158050 nonsense probably null
R0839:Tmf1 UTSW 6 97176323 missense probably damaging 1.00
R1078:Tmf1 UTSW 6 97173300 missense probably damaging 1.00
R1905:Tmf1 UTSW 6 97161479 missense possibly damaging 0.53
R2274:Tmf1 UTSW 6 97163586 missense probably damaging 1.00
R3701:Tmf1 UTSW 6 97172331 missense possibly damaging 0.51
R3953:Tmf1 UTSW 6 97176206 missense probably damaging 0.99
R3955:Tmf1 UTSW 6 97176206 missense probably damaging 0.99
R4398:Tmf1 UTSW 6 97178896 missense probably damaging 0.99
R4416:Tmf1 UTSW 6 97178988 missense probably damaging 1.00
R4497:Tmf1 UTSW 6 97172332 missense probably benign 0.00
R4592:Tmf1 UTSW 6 97173400 missense probably benign 0.00
R4669:Tmf1 UTSW 6 97170427 missense probably benign 0.00
R5214:Tmf1 UTSW 6 97167292 missense possibly damaging 0.81
R5352:Tmf1 UTSW 6 97176809 missense probably damaging 1.00
R5530:Tmf1 UTSW 6 97158087 missense probably damaging 1.00
R5815:Tmf1 UTSW 6 97173403 missense probably benign 0.28
R6806:Tmf1 UTSW 6 97161447 nonsense probably null
R6837:Tmf1 UTSW 6 97176581 missense possibly damaging 0.76
R6853:Tmf1 UTSW 6 97168849 missense probably damaging 0.99
R6887:Tmf1 UTSW 6 97176838 missense probably damaging 1.00
R7058:Tmf1 UTSW 6 97156950 missense probably damaging 1.00
R7145:Tmf1 UTSW 6 97176118 missense probably damaging 1.00
R7340:Tmf1 UTSW 6 97168100 missense possibly damaging 0.81
R7573:Tmf1 UTSW 6 97158494 missense probably benign 0.14
R7809:Tmf1 UTSW 6 97161459 missense probably damaging 0.99
R7833:Tmf1 UTSW 6 97161411 missense probably benign 0.06
R7916:Tmf1 UTSW 6 97161411 missense probably benign 0.06
Posted On2015-04-16