Incidental Mutation 'R7573:Tmf1'
ID 586151
Institutional Source Beutler Lab
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene Name TATA element modulatory factor 1
Synonyms LOC232286, 7030402D04Rik
MMRRC Submission 045659-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R7573 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 97129958-97156083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97135455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 940 (D940E)
Ref Sequence ENSEMBL: ENSMUSP00000093325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095664] [ENSMUST00000124173]
AlphaFold B9EKI3
Predicted Effect probably benign
Transcript: ENSMUST00000095664
AA Change: D940E

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: D940E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,366,917 (GRCm39) I49F Het
1810055G02Rik T A 19: 3,765,728 (GRCm39) M1K probably null Het
Abcb1b G A 5: 8,878,866 (GRCm39) C750Y possibly damaging Het
Abi2 T A 1: 60,509,867 (GRCm39) V412D probably benign Het
Alk C T 17: 72,207,787 (GRCm39) V983M probably damaging Het
Alppl2 A T 1: 87,015,953 (GRCm39) W266R possibly damaging Het
Arhgef18 A G 8: 3,434,918 (GRCm39) R188G probably damaging Het
Atp2c2 A T 8: 120,478,008 (GRCm39) D695V probably damaging Het
B3gnt4 A T 5: 123,648,718 (GRCm39) I28L probably benign Het
C2cd3 A G 7: 100,068,914 (GRCm39) D536G Het
Cacna1c A G 6: 118,581,406 (GRCm39) S1733P Het
Cacna1e T C 1: 154,601,911 (GRCm39) probably benign Het
Capns1 A G 7: 29,891,960 (GRCm39) F101L probably damaging Het
Ccdc180 A G 4: 45,922,015 (GRCm39) T1030A probably benign Het
Cdh23 T C 10: 60,159,329 (GRCm39) T2151A probably benign Het
Cenpe T A 3: 134,953,220 (GRCm39) L1558Q probably damaging Het
Cfap157 T C 2: 32,667,520 (GRCm39) H521R probably benign Het
Crygs T A 16: 22,624,069 (GRCm39) *179C probably null Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cul9 T C 17: 46,830,836 (GRCm39) T1686A probably benign Het
Cutc T C 19: 43,748,382 (GRCm39) V95A probably benign Het
Cxcl3 A G 5: 90,934,105 (GRCm39) T26A probably benign Het
Dnah9 A G 11: 66,016,041 (GRCm39) V400A probably benign Het
Dysf A T 6: 84,107,104 (GRCm39) N1139I possibly damaging Het
Fam136a G A 6: 86,343,667 (GRCm39) E55K probably benign Het
Fam151a A G 4: 106,600,502 (GRCm39) D179G probably damaging Het
Fam178b T C 1: 36,671,533 (GRCm39) D196G probably damaging Het
Fut9 A T 4: 25,620,691 (GRCm39) M41K probably benign Het
Gm9195 T C 14: 72,694,122 (GRCm39) Q1531R probably null Het
Gpr6 A T 10: 40,946,868 (GRCm39) V238D probably damaging Het
Hoxa2 A T 6: 52,140,283 (GRCm39) S234R probably benign Het
Itga4 A G 2: 79,103,337 (GRCm39) T143A probably benign Het
Kcnq2 A G 2: 180,723,382 (GRCm39) S693P probably benign Het
Kif13b A G 14: 65,041,107 (GRCm39) I1732V probably benign Het
Klhl14 A G 18: 21,785,211 (GRCm39) V72A probably benign Het
Krt1c T A 15: 101,722,954 (GRCm39) D348V probably benign Het
Map4k2 A T 19: 6,394,094 (GRCm39) E300D probably benign Het
Mars1 A G 10: 127,138,679 (GRCm39) probably null Het
Mpo A G 11: 87,688,403 (GRCm39) D354G probably benign Het
Mrpl15 T C 1: 4,847,778 (GRCm39) T174A probably damaging Het
Myom2 G A 8: 15,172,450 (GRCm39) C1183Y probably damaging Het
Nfkb2 C A 19: 46,297,082 (GRCm39) Q336K possibly damaging Het
Nlrp2 A G 7: 5,320,468 (GRCm39) probably null Het
Nlrp9b T C 7: 19,753,125 (GRCm39) L10P probably damaging Het
Nrip2 A G 6: 128,377,232 (GRCm39) S53G probably benign Het
Or13a22 G A 7: 140,072,912 (GRCm39) M120I probably damaging Het
Or4k36 T C 2: 111,146,277 (GRCm39) I151T probably benign Het
Or52a5b A G 7: 103,416,677 (GRCm39) M309T probably benign Het
Or52z13 C T 7: 103,246,735 (GRCm39) L71F probably benign Het
Or8b54 A T 9: 38,686,791 (GRCm39) K80I probably damaging Het
Or8g18 C T 9: 39,148,977 (GRCm39) V248I probably benign Het
Pak5 A G 2: 135,958,225 (GRCm39) S288P probably damaging Het
Pjvk T C 2: 76,487,809 (GRCm39) F234L probably benign Het
Plekhm2 T C 4: 141,358,658 (GRCm39) N616D probably benign Het
Pnkp C T 7: 44,506,852 (GRCm39) R9C probably damaging Het
Prom1 A G 5: 44,213,272 (GRCm39) C154R probably damaging Het
Rab3gap2 T A 1: 185,014,579 (GRCm39) W1243R probably benign Het
Rad17 C T 13: 100,765,974 (GRCm39) A385T probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rnf213 T C 11: 119,349,310 (GRCm39) C3804R Het
Ros1 T A 10: 52,046,072 (GRCm39) T153S probably benign Het
Sema4g T C 19: 44,986,010 (GRCm39) S284P probably damaging Het
Septin9 C T 11: 117,090,571 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,574,569 (GRCm39) S236G probably damaging Het
Slc9c1 T C 16: 45,398,256 (GRCm39) F674L probably benign Het
Slfn5 A T 11: 82,849,585 (GRCm39) K361N probably damaging Het
Smad6 A G 9: 63,929,052 (GRCm39) L88S unknown Het
Smarca4 T A 9: 21,550,371 (GRCm39) probably null Het
Smg7 A T 1: 152,735,240 (GRCm39) N198K probably damaging Het
Sorcs1 G A 19: 50,141,234 (GRCm39) Q1166* probably null Het
Stap1 A G 5: 86,238,854 (GRCm39) N212S possibly damaging Het
Tbx2 C G 11: 85,724,138 (GRCm39) A69G possibly damaging Het
Tmc1 C A 19: 20,884,372 (GRCm39) D23Y probably damaging Het
Trim27 T A 13: 21,364,770 (GRCm39) C36S probably damaging Het
Unc80 G A 1: 66,560,696 (GRCm39) G808D probably damaging Het
Usp17ld G T 7: 102,900,094 (GRCm39) Y279* probably null Het
Usp40 G A 1: 87,913,794 (GRCm39) A433V probably benign Het
Vmn1r49 G A 6: 90,049,843 (GRCm39) A53V probably benign Het
Vmn1r84 T C 7: 12,095,787 (GRCm39) N302S probably benign Het
Wfdc2 A T 2: 164,407,741 (GRCm39) I137L 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
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
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'- ATCATGTGTATTTCGTCACTTCAATT -3'
(R):5'- GGGAAAGGCAGGCTTTAAAGTT -3'

Sequencing Primer
(F):5'- GTGTATTTCGTCACTTCAATTAGCAC -3'
(R):5'- CTCTGGAAGAACAGTCAGTGCTC -3'
Posted On 2019-10-24