Incidental Mutation 'RF040:Tfeb'
ID 604787
Institutional Source Beutler Lab
Gene Symbol Tfeb
Ensembl Gene ENSMUSG00000023990
Gene Name transcription factor EB
Synonyms Tcfeb, TFEB, bHLHe35
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF040 (G1)
Quality Score 173.468
Status Not validated
Chromosome 17
Chromosomal Location 48047962-48103341 bp(+) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) CAG to CAGGAG at 48097035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024786] [ENSMUST00000086932] [ENSMUST00000113284] [ENSMUST00000113288] [ENSMUST00000125177] [ENSMUST00000126258] [ENSMUST00000130208] [ENSMUST00000137845] [ENSMUST00000141631] [ENSMUST00000146782] [ENSMUST00000159641] [ENSMUST00000160373]
AlphaFold Q9R210
Predicted Effect probably benign
Transcript: ENSMUST00000024786
SMART Domains Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
Pfam:MITF_TFEB_C_3_N 63 220 2e-69 PFAM
HLH 299 352 1.44e-15 SMART
Pfam:DUF3371 379 531 1.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086932
SMART Domains Protein: ENSMUSP00000084151
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113284
SMART Domains Protein: ENSMUSP00000108909
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
Pfam:HLH 235 266 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113288
SMART Domains Protein: ENSMUSP00000108913
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125177
SMART Domains Protein: ENSMUSP00000121888
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 42 78 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126258
Predicted Effect probably benign
Transcript: ENSMUST00000130208
SMART Domains Protein: ENSMUSP00000122228
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137845
Predicted Effect probably benign
Transcript: ENSMUST00000141631
SMART Domains Protein: ENSMUSP00000118057
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146782
SMART Domains Protein: ENSMUSP00000120311
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
HLH 99 152 1.44e-15 SMART
Pfam:DUF3371 179 332 1.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159641
SMART Domains Protein: ENSMUSP00000124379
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160373
SMART Domains Protein: ENSMUSP00000124708
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TGCTGTG TGCTGTGACAGCTGTG 1: 82,891,298 (GRCm39) probably benign Het
A030005L19Rik G GTGGCTGCTC 1: 82,891,311 (GRCm39) probably benign Het
Brme1 TG TGTCAGGGCAGCAGCAG 8: 84,894,204 (GRCm39) probably benign Het
Cacna1f CTGAATTGGTTCCCAGACCCGTGT CT X: 7,485,210 (GRCm39) probably null Het
Calhm1 C CTGTGGCTGTGGA 19: 47,129,716 (GRCm39) probably benign Het
Cdx1 CTGCTG CTGCTGATGCTG 18: 61,152,942 (GRCm39) probably benign Het
Cyb5r4 ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 86,922,462 (GRCm39) probably benign Het
Dbr1 GAGGAG GAGGAGTAGGAG 9: 99,465,750 (GRCm39) probably null Het
Dnajc2 TAGTTG T 5: 21,962,695 (GRCm39) probably null Het
Fgd6 ATT A 10: 93,880,187 (GRCm39) probably null Het
Flywch1 CTCCTGGTGT CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT 17: 23,981,143 (GRCm39) probably null Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Garin5a C CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA 7: 44,149,945 (GRCm39) probably null Het
Garin5a GGGAGGA GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA 7: 44,149,955 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Heatr3 TAT TATTGAT 8: 88,883,085 (GRCm39) probably benign Het
Kmt2e TTT TTTTCTT 5: 23,683,507 (GRCm39) probably benign Het
Luzp1 A AGGTGGCCTCTTCAGC 4: 136,270,507 (GRCm39) probably benign Het
Mamld1 AACA AACAACA X: 70,162,420 (GRCm39) probably benign Het
Mast4 CCTCGGGGACAAGCTGTGAGTTGGGGAAC CC 13: 102,875,749 (GRCm39) probably benign Het
Med12l AGC AGCCGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,410 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,064,550 (GRCm39) probably null Het
Ncoa6 TGCAGC TGC 2: 155,263,651 (GRCm39) probably benign Het
Nlrp3 GGGTA G 11: 59,449,378 (GRCm39) probably null Het
Nolc1 AGCAGCAGC AGCAGCAGCCGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Nusap1 TTAGCAGTGAGGAGCAAGCTGAGA TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA 2: 119,458,068 (GRCm39) probably benign Het
Or10j2 GTGACATC G 1: 173,098,276 (GRCm39) probably null Het
Or52z15 ACTTGCTGATATCTT ACTT 7: 103,332,145 (GRCm39) probably null Het
Osmr TTCT TTCTTCT 15: 6,867,182 (GRCm39) probably benign Het
Padi3 TCTCAC TC 4: 140,520,283 (GRCm39) probably benign Het
Pdik1l AC ACCACCGC 4: 134,006,826 (GRCm39) probably benign Het
Rpgrip1 AGGAAGAGG AG 14: 52,386,994 (GRCm39) probably null Het
Rragd CATGCCTTTCATTCTA C 4: 32,995,150 (GRCm39) probably benign Het
Ryr3 CTGA C 2: 112,740,869 (GRCm39) probably benign Het
Sh3pxd2b CCTGTG CCTGTGTCTGTG 11: 32,373,055 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Smarca2 GC GCCCCACC 19: 26,608,422 (GRCm39) probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Sprr2b CAGTATGCTGTGAGCCTTGTCCTCCT C 3: 92,224,871 (GRCm39) probably null Het
Sry GCTG GCTGGTGGTGGTGGTCATGGAACTG Y: 2,662,590 (GRCm39) probably benign Het
Tcof1 CT CTATT 18: 60,961,480 (GRCm39) probably benign Het
Tcof1 GC GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC 18: 60,966,655 (GRCm39) probably benign Het
Tgoln1 T TCACCTCCCGTGGTCTTGCCAGAAG 6: 72,593,057 (GRCm39) probably benign Het
Tmem59 TTTGTTT TTTGTTTGGTTGTTT 4: 107,047,723 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 15: 72,673,141 (GRCm39) probably benign Het
Triobp CAA CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA 15: 78,851,263 (GRCm39) probably benign Het
Xirp2 TT TTTAT 2: 67,355,888 (GRCm39) probably benign Het
Zfhx3 CAGCA CAGCAACAGGAGCA 8: 109,682,733 (GRCm39) probably benign Het
Other mutations in Tfeb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Tfeb APN 17 48,102,589 (GRCm39) missense probably benign 0.10
IGL03248:Tfeb APN 17 48,097,920 (GRCm39) missense probably benign
IGL03280:Tfeb APN 17 48,096,862 (GRCm39) missense probably benign
FR4304:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
FR4976:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
R0414:Tfeb UTSW 17 48,099,224 (GRCm39) splice site probably null
R1712:Tfeb UTSW 17 48,099,911 (GRCm39) critical splice donor site probably null
R2014:Tfeb UTSW 17 48,102,484 (GRCm39) missense probably damaging 0.97
R2101:Tfeb UTSW 17 48,100,590 (GRCm39) missense probably damaging 1.00
R4283:Tfeb UTSW 17 48,100,699 (GRCm39) missense probably damaging 1.00
R4734:Tfeb UTSW 17 48,096,787 (GRCm39) missense probably benign 0.33
R4785:Tfeb UTSW 17 48,099,152 (GRCm39) splice site probably null
R4948:Tfeb UTSW 17 48,096,904 (GRCm39) missense probably benign 0.00
R5896:Tfeb UTSW 17 48,070,433 (GRCm39) critical splice donor site probably null
R6522:Tfeb UTSW 17 48,100,627 (GRCm39) missense probably damaging 1.00
R6804:Tfeb UTSW 17 48,100,735 (GRCm39) critical splice donor site probably null
R6836:Tfeb UTSW 17 48,097,123 (GRCm39) critical splice donor site probably null
R6923:Tfeb UTSW 17 48,097,908 (GRCm39) missense probably benign 0.11
RF002:Tfeb UTSW 17 48,097,027 (GRCm39) small insertion probably benign
RF003:Tfeb UTSW 17 48,099,003 (GRCm39) missense possibly damaging 0.86
RF006:Tfeb UTSW 17 48,097,038 (GRCm39) small insertion probably benign
RF008:Tfeb UTSW 17 48,097,027 (GRCm39) small insertion probably benign
RF010:Tfeb UTSW 17 48,097,032 (GRCm39) small insertion probably benign
RF010:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
RF018:Tfeb UTSW 17 48,097,020 (GRCm39) small insertion probably benign
RF022:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
RF025:Tfeb UTSW 17 48,097,013 (GRCm39) small insertion probably benign
RF028:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,038 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF034:Tfeb UTSW 17 48,097,023 (GRCm39) nonsense probably null
RF034:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF035:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF036:Tfeb UTSW 17 48,097,028 (GRCm39) small insertion probably benign
RF038:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF038:Tfeb UTSW 17 48,097,030 (GRCm39) small insertion probably benign
RF039:Tfeb UTSW 17 48,097,035 (GRCm39) nonsense probably null
RF039:Tfeb UTSW 17 48,097,020 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF041:Tfeb UTSW 17 48,097,025 (GRCm39) small insertion probably benign
RF042:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF047:Tfeb UTSW 17 48,097,041 (GRCm39) small insertion probably benign
RF047:Tfeb UTSW 17 48,097,031 (GRCm39) small insertion probably benign
RF053:Tfeb UTSW 17 48,097,039 (GRCm39) small insertion probably benign
RF054:Tfeb UTSW 17 48,097,023 (GRCm39) nonsense probably null
RF060:Tfeb UTSW 17 48,097,031 (GRCm39) small insertion probably benign
RF061:Tfeb UTSW 17 48,097,017 (GRCm39) small insertion probably benign
RF062:Tfeb UTSW 17 48,097,025 (GRCm39) small insertion probably benign
Z1177:Tfeb UTSW 17 48,102,569 (GRCm39) missense possibly damaging 0.74
Z1177:Tfeb UTSW 17 48,097,449 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAATACTTCATGGGCCTGTCTC -3'
(R):5'- ACCTTCTGATGCTGGGACTG -3'

Sequencing Primer
(F):5'- TCTCCCCTCGACTACAGGGAG -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'
Posted On 2019-12-04