Mutagenetix > Incidental Mutations

Incidental Mutation 'RF010:Tfeb'

603165

Institutional Source

Beutler Lab

Gene Symbol

Tfeb

Ensembl Gene

ENSMUSG00000023990

Gene Name

transcription factor EB

Synonyms

bHLHe35, TFEB, Tcfeb

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

RF010 (G1)

Quality Score

166.468

Status

Not validated

Chromosome

Chromosomal Location

47737030-47792419 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCAACA at 47786094 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

noncoding transcript
Transcript: ENSMUST00000124765

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

noncoding transcript
Transcript: ENSMUST00000140715

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162719

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,568,576		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Ankrd28	A	G	14: 31,778,986	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 20,943,911		probably null	Het
B020031M17Rik	A	T	13: 119,950,046	V8E	probably benign	Het
Bend3	T	A	10: 43,510,184	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,141,273		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,947,860		probably benign	Het
Chga	GCA	GCATCA	12: 102,561,403		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 95,303,650		probably null	Het
Cnot3	T	C	7: 3,656,069	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,286,795	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,677,563	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,762,175		probably null	Het
Fmn2	T	A	1: 174,582,015	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 75,000,011		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 72,270,060		probably benign	Het
Gli3	A	G	13: 15,726,369	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,913,732	V297A	probably benign	Het
Ifi213	C	G	1: 173,582,153	D462H	probably damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 93,018,290		probably benign	Het
Lpo	A	G	11: 87,821,102	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,306,318		probably benign	Het
Mapk9	A	G	11: 49,854,256		probably benign	Het
Mep1a	G	A	17: 43,486,235	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myh3	AC	ACTTCC	11: 67,086,359		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,627,584		probably benign	Het
Olfr1118	T	A	2: 87,308,840	V37E	possibly damaging	Het
Olfr305	T	C	7: 86,363,386	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,113,451		probably null	Het
Pfkm	T	A	15: 98,129,793	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,626,495		probably null	Het
Prkce	T	C	17: 86,488,199	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,592,263	S93P	probably damaging	Het
Rfc4	T	C	16: 23,127,482	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,858,487		probably benign	Het
Ryr3	G	T	2: 112,775,670	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 23,945,351		probably benign	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sec63	C	A	10: 42,806,624	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,355		probably benign	Het
Slco5a1	G	A	1: 12,871,947	T825I	probably damaging	Het
Stard8	GGA	GGAAGA	X: 99,066,517		probably benign	Het
Stxbp1	A	G	2: 32,821,915	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662		probably benign	Het
Syne1	T	A	10: 5,246,386	D3882V	possibly damaging	Het
T	A	G	17: 8,441,708	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,836,940		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,744		probably benign	Het
Thegl	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,016,427		probably benign	Het
Thumpd3	C	T	6: 113,056,045	A248V	probably damaging	Het
Tmem181a	T	C	17: 6,280,703		probably null	Het
Tmem56	T	A	3: 121,228,884	I103L	probably benign	Het
Trim41	A	T	11: 48,807,338	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,790,339	C147*	probably null	Het
Ttll2	C	T	17: 7,351,338	A397T	probably benign	Het
Unc79	T	A	12: 103,112,787	L1737Q	probably benign	Het
Usp47	T	A	7: 112,092,938	V869E	probably damaging	Het
Vmn1r231	T	A	17: 20,889,993	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,039,489	T304I	possibly damaging	Het
Wdr66	TCTCA	T	5: 123,274,161		probably benign	Het
Wrn	T	C	8: 33,288,765	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,036,488		probably benign	Het
Zfyve26	C	T	12: 79,255,338	C1828Y	probably damaging	Het
Znrd1as	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 36,965,063		probably benign	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
RF002:Tfeb	UTSW	17	47786102	small insertion	probably benign
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	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'- GTGCTTAAAGACTACGAAGATGATG -3'
(R):5'- GAACCTTCTGATGCTGGGAC -3'

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

Posted On

2019-12-04