Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4304:Tfeb'

511070

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 #

FR4304 ()

Quality Score

175.468

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: 99.6%
10x: 98.6%
20x: 96.4%

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: 137 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449		probably benign	Homo
1700001K19Rik	TTC	TTCGTC	12: 110,668,450		probably benign	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,748		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,993,056		probably benign	Het
4930447C04Rik	AAGT	A	12: 72,881,287		probably benign	Homo
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Homo
Acbd4	CAG	CAGACTAG	11: 103,104,105		probably null	Homo
Ahdc1	CT	CTCTT	4: 133,062,759		probably benign	Homo
Alpk3	TCT	TCTGCT	7: 81,077,762		probably benign	Het
Anapc4	C	T	5: 52,864,526	T650M	probably damaging	Homo
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,560,924		probably benign	Het
Ankrd35	TAGC	TAGCAGC	3: 96,683,847		probably benign	Homo
Apc	GCCAATAAA	GCCAATAAAACCAATAAA	18: 34,281,997		probably benign	Het
Apol6	TTGT	TTGTCTGT	15: 77,051,436		probably null	Het
Arhgap30	TGGCCC	TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC	1: 171,405,168		probably benign	Het
Arpc1b	GCC	GCCTGTCC	5: 145,126,791		probably null	Het
BC051142	A	AGCC	17: 34,460,055		probably benign	Het
BC051142	GC	GCATC	17: 34,460,077		probably benign	Het
Blm	CT	CTACGT	7: 80,463,773		probably null	Homo
Blm	TCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCC	7: 80,512,919		probably benign	Het
Btnl10	GA	GAATA	11: 58,923,930		probably benign	Homo
Cacna1f	AGG	AGGCGG	X: 7,620,061		probably benign	Het
Calhm3	CG	CGG	19: 47,151,896		probably null	Homo
Catsper2	C	CTTTTACTTTTTA	2: 121,397,542		probably null	Homo
Catsper2	CAT	CATTAT	2: 121,397,782		probably benign	Het
Ccdc15	AC	ACTTTCC	9: 37,315,157		probably null	Het
Ccdc162	T	C	10: 41,556,121	D1792G	possibly damaging	Het
Ccdc170	CCA	CCATCA	10: 4,561,021		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840		probably benign	Homo
Ccdc85c	GCC	GCCCCC	12: 108,274,612		probably benign	Het
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Het
Cd80	AGA	AGAGGA	16: 38,486,315		probably benign	Homo
Cep89	GACT	G	7: 35,409,641		probably benign	Het
Cfap74	A	G	4: 155,415,760	D21G	possibly damaging	Homo
Cgref1	T	TCTA	5: 30,933,780		probably benign	Homo
Chd4	GCC	GCCACTCCC	6: 125,122,144		probably benign	Het
Cnpy3	TCC	TCCCCC	17: 46,736,743		probably benign	Het
Cnpy3	TCC	TCCACC	17: 46,736,746		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Cntnap1	CCCCAG	CCCCAGACCCAG	11: 101,189,589		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Homo
Cpeb4	T	TGA	11: 31,927,638		probably benign	Homo
Cpne1	AGA	AGAGAGA	2: 156,072,025		probably null	Homo
Cttnbp2	ATTGCTG	ATTGCTGTTGCTG	6: 18,367,458		probably benign	Het
Dhx37	CTGG	C	5: 125,427,530		probably benign	Het
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,188		probably benign	Homo
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dst	C	A	1: 34,200,964	S1798Y	probably damaging	Het
Eif3a	TA	TATTTCA	19: 60,775,290		probably benign	Homo
Ermn	TTC	TTCCTC	2: 58,048,078		probably benign	Het
Ermn	CTT	CTTGTT	2: 58,048,086		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,094		probably benign	Het
Fbxo43	TGTGCC	TGTGCCAGTGCC	15: 36,152,097		probably benign	Het
Fbxo43	GCCTGT	GCCTGTCCCTGT	15: 36,152,100		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783		probably benign	Homo
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm4340	CAG	CAGAAG	10: 104,196,072		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,082		probably benign	Het
Gm5114	T	C	7: 39,411,105	R107G	probably benign	Het
Gm5114	A	C	7: 39,411,106	H106Q	probably benign	Het
Gm9573	T	G	17: 35,622,121		probably benign	Homo
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
H2-T10	TGTTTCCCACTG	T	17: 36,120,281		probably null	Het
Hist1h1t	GAGAA	GA	13: 23,695,920		probably benign	Homo
Ifi203	C	T	1: 173,928,328		probably benign	Het
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Il17rd	CGG	CGGTGG	14: 27,082,680		probably benign	Het
Il2	AGTGG	AGTGGGGCTTGAGGTGG	3: 37,125,826		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,275		probably benign	Het
Ipo9	CCT	CCTACT	1: 135,386,279		probably null	Het
Isg20l2	AAG	AAGCAG	3: 87,931,712		probably benign	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,363		probably benign	Het
Kmt2c	TGCTGCTG	TGCTGCTGCTGCTG	5: 25,315,766		probably benign	Homo
Krt10	CGCC	CGCCGCC	11: 99,386,199		probably benign	Het
Krt10	CCTCCT	CCTCCTACTCCT	11: 99,389,274		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,820		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,821		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 181,697,579		probably benign	Het
Lrch1	A	T	14: 74,819,565	C241S	possibly damaging	Het
Lrit3	G	GCTT	3: 129,788,819		probably benign	Het
Maml2	GCAGCAGCAACAGCAGCA	GCAGCAGCA	9: 13,621,459		probably benign	Homo
Mast4	T	TTTC	13: 102,734,862		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,982		probably benign	Het
Noc2l	TGC	TGCAGC	4: 156,240,096		probably benign	Het
Nrg3	G	GACATTT	14: 38,397,273		probably benign	Homo
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Homo
Park2	G	A	17: 11,854,763	V323M	probably damaging	Het
Patl2	GCT	GCTTCT	2: 122,126,135		probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,279,374		probably null	Homo
Pik3c2g	AG	AGAGGG	6: 139,635,656		probably null	Homo
Plekhs1	T	TTCAGACCTCCCC	19: 56,479,858		probably benign	Het
Prkd3	G	T	17: 78,975,820		probably null	Homo
Prr13	TCC	TCCCCC	15: 102,462,177		probably benign	Homo
Prrc2b	G	A	2: 32,221,167	A1852T	probably damaging	Homo
Ptms	CTT	CTTTTT	6: 124,914,458		probably benign	Homo
Rtl1	TTCCTCTTCCTCCTC	TTCCTC	12: 109,591,198		probably benign	Homo
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Six3	CGG	CGGTGG	17: 85,621,368		probably benign	Het
Sry	GTG	GTGCTG	Y: 2,662,837		probably benign	Homo
Stard8	GGAAGA	GGAAGAAGA	X: 99,066,505		probably benign	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,727,647		probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662		probably benign	Het
Supt20	CAGCAG	CAGCAGTAGCAG	3: 54,727,664		probably null	Het
Sytl1	CTCT	C	4: 133,256,993		probably benign	Homo
Tcof1	AGC	AGCGGC	18: 60,835,742		probably benign	Het
Tdpoz2	T	TCA	3: 93,651,615		probably null	Homo
Tert	GCC	GCCAAGGGTTCC	13: 73,648,302		probably benign	Homo
Ticrr	ATT	ATTTTT	7: 79,694,311		probably benign	Homo
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839		probably null	Homo
Tnfrsf9	T	TGCC	4: 150,934,395		probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,464		probably benign	Het
Tob1	CA	CAGTA	11: 94,214,477		probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750		probably benign	Homo
Triobp	TCGTCG	TCGTCGTCG	15: 78,993,387		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,069		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956		probably benign	Het
Ubtf	CTCGTCGTC	CTCGTCGTCGTC	11: 102,306,958		probably benign	Het
Vars	TGG	TGGAGTCCTGGGCGG	17: 35,015,989		probably benign	Homo
Vmn1r171	C	T	7: 23,632,680	A110V	probably benign	Het
Vmn2r31	G	T	7: 7,384,608	Q655K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	AGATGTGCG	AGATGTGCGGGATGTGCG	14: 75,323,603		probably benign	Het
Zc3h13	CG	CGAGATGTGTG	14: 75,323,610		probably benign	Het
Zfp282	GGC	GGCCGC	6: 47,904,797		probably benign	Het
Zfp384	AGGC	AGGCCCAGGCCCCGGC	6: 125,036,493		probably benign	Het
Zfp459	TGA	TGAGCGA	13: 67,408,274		probably null	Homo
Zfp462	GCCACC	GCCACCTCAGCCACAACCACC	4: 55,009,757		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775		probably benign	Het
Zfp831	CCT	CCTGCT	2: 174,645,481		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
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	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'- GTGCTTAAAGACTACGAAGATGATG -3'
(R):5'- ACCTTCTGATGCTGGGACTG -3'

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

Posted On

2018-04-05