Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Tfeb'

602589

Institutional Source

Beutler Lab

Gene Symbol

Tfeb

Ensembl Gene

ENSMUSG00000023990

Gene Name

transcription factor EB

Synonyms

bHLHe35, TFEB, Tcfeb

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF002 (G1)

Quality Score

161.468

Status

Not validated

Chromosome

Chromosomal Location

47737030-47792419 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

AGC to AGCGGC at 47786102 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	7	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146782

SMART Domains

Protein: ENSMUSP00000120311
Gene: ENSMUSG00000023990

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	7	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160373

SMART Domains

Protein: ENSMUSP00000124708
Gene: ENSMUSG00000023990

Domain	Start	End	E-Value	Type
low complexity region	7	43	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Tfeb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Tfeb	APN	17	47791664	missense	probably benign	0.10
IGL03248:Tfeb	APN	17	47786995	missense	probably benign
IGL03280:Tfeb	APN	17	47785937	missense	probably benign
FR4304:Tfeb	UTSW	17	47786094	small insertion	probably benign
FR4976:Tfeb	UTSW	17	47786094	small insertion	probably benign
R0414:Tfeb	UTSW	17	47788299	splice site	probably null
R1712:Tfeb	UTSW	17	47788986	critical splice donor site	probably null
R2014:Tfeb	UTSW	17	47791559	missense	probably damaging	0.97
R2101:Tfeb	UTSW	17	47789665	missense	probably damaging	1.00
R4283:Tfeb	UTSW	17	47789774	missense	probably damaging	1.00
R4734:Tfeb	UTSW	17	47785862	missense	probably benign	0.33
R4785:Tfeb	UTSW	17	47788227	splice site	probably null
R4948:Tfeb	UTSW	17	47785979	missense	probably benign	0.00
R5896:Tfeb	UTSW	17	47759508	critical splice donor site	probably null
R6522:Tfeb	UTSW	17	47789702	missense	probably damaging	1.00
R6804:Tfeb	UTSW	17	47789810	critical splice donor site	probably null
R6836:Tfeb	UTSW	17	47786198	critical splice donor site	probably null
R6923:Tfeb	UTSW	17	47786983	missense	probably benign	0.11
RF003:Tfeb	UTSW	17	47788078	missense	possibly damaging	0.86
RF006:Tfeb	UTSW	17	47786113	small insertion	probably benign
RF008:Tfeb	UTSW	17	47786102	small insertion	probably benign
RF010:Tfeb	UTSW	17	47786094	small insertion	probably benign
RF010:Tfeb	UTSW	17	47786107	small insertion	probably benign
RF018:Tfeb	UTSW	17	47786095	small insertion	probably benign
RF022:Tfeb	UTSW	17	47786094	small insertion	probably benign
RF025:Tfeb	UTSW	17	47786088	small insertion	probably benign
RF028:Tfeb	UTSW	17	47786097	small insertion	probably benign
RF030:Tfeb	UTSW	17	47786111	small insertion	probably benign
RF030:Tfeb	UTSW	17	47786112	small insertion	probably benign
RF030:Tfeb	UTSW	17	47786113	small insertion	probably benign
RF034:Tfeb	UTSW	17	47786097	small insertion	probably benign
RF034:Tfeb	UTSW	17	47786098	nonsense	probably null
RF035:Tfeb	UTSW	17	47786111	small insertion	probably benign
RF036:Tfeb	UTSW	17	47786103	small insertion	probably benign
RF038:Tfeb	UTSW	17	47786105	small insertion	probably benign
RF038:Tfeb	UTSW	17	47786112	small insertion	probably benign
RF039:Tfeb	UTSW	17	47786095	small insertion	probably benign
RF039:Tfeb	UTSW	17	47786110	nonsense	probably null
RF040:Tfeb	UTSW	17	47786097	small insertion	probably benign
RF040:Tfeb	UTSW	17	47786110	small insertion	probably benign
RF040:Tfeb	UTSW	17	47786111	small insertion	probably benign
RF040:Tfeb	UTSW	17	47786112	small insertion	probably benign
RF041:Tfeb	UTSW	17	47786100	small insertion	probably benign
RF042:Tfeb	UTSW	17	47786097	small insertion	probably benign
RF047:Tfeb	UTSW	17	47786106	small insertion	probably benign
RF047:Tfeb	UTSW	17	47786116	small insertion	probably benign
RF053:Tfeb	UTSW	17	47786114	small insertion	probably benign
RF054:Tfeb	UTSW	17	47786098	nonsense	probably null
RF060:Tfeb	UTSW	17	47786106	small insertion	probably benign
RF061:Tfeb	UTSW	17	47786092	small insertion	probably benign
RF062:Tfeb	UTSW	17	47786100	small insertion	probably benign
Z1177:Tfeb	UTSW	17	47786524	nonsense	probably null
Z1177:Tfeb	UTSW	17	47791644	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- AATACTTCATGGGCCTGTCTCC -3'
(R):5'- GAACCTTCTGATGCTGGGACTG -3'

Sequencing Primer
(F):5'- TCTCCCCTCGACTACAGGGAG -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'

Posted On

2019-12-04