Mutagenetix > Incidental Mutations

Incidental Mutation 'RF008:Tfeb'

603016

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 #

RF008 (G1)

Quality Score

165.468

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 AGCTGC 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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

100% (45/45)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,765,767	R8H	probably benign	Het
Abi3bp	CCACGACC	CCACGACCACGACC	16: 56,627,589		probably benign	Het
Acan	T	G	7: 79,092,400	V515G	possibly damaging	Het
Acap3	TGG	TGGACTGCTGCATCCAGG	4: 155,905,098		probably benign	Het
AI837181	G	GGCT	19: 5,425,238		probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,924		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Arid1b	GCG	GCGACG	17: 4,995,594		probably benign	Het
Arid1b	CGG	CGGAGG	17: 4,995,595		probably benign	Het
Begain	G	GCCGCCC	12: 109,033,437		probably null	Het
Cacna1e	A	G	1: 154,442,136	M1500T	probably damaging	Het
Casp16-ps	C	A	17: 23,555,227		probably benign	Het
Ccdc174	T	C	6: 91,899,366	S395P	possibly damaging	Het
Ccdc7a	T	G	8: 128,964,953	Q396H	probably damaging	Het
Ccdc85c	CC	CCGGC	12: 108,274,628		probably benign	Het
Cemip	T	C	7: 83,961,635	T704A	probably damaging	Het
Col7a1	C	T	9: 108,964,479	P1370S	unknown	Het
Cts8	T	C	13: 61,249,288	I273V	probably benign	Het
Cyp2c50	T	A	19: 40,089,824	I42N	probably damaging	Het
Dbt	T	G	3: 116,548,068	Y439*	probably null	Het
Dennd1b	T	A	1: 139,053,397	D116E	probably damaging	Het
Dkk2	T	A	3: 132,178,102	H254Q	probably damaging	Het
Dpy30	C	A	17: 74,315,907	V27F	possibly damaging	Het
Efhd2	GCCGCC	GCCGCCCCCGCC	4: 141,874,758		probably benign	Het
Eif4g3	A	T	4: 138,175,924	E1020V	probably damaging	Het
Elmo1	T	A	13: 20,274,536	S156T	probably benign	Het
Fancd2os	T	C	6: 113,597,920	T42A	probably damaging	Het
Fbrsl1	TGTGC	TGTGCGGGTGTGGGTGC	5: 110,378,118		probably benign	Het
Fsip2	T	C	2: 82,977,840	V1501A	probably benign	Het
Gabrb2	A	G	11: 42,626,878	Y509C	probably damaging	Het
Gm8369	GTGT	GTGTTTGT	19: 11,511,754		probably null	Het
Gpr139	T	C	7: 119,144,867	D165G	probably benign	Het
Grik2	T	C	10: 49,244,384	E603G	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Ifitm10	T	A	7: 142,328,593	M147L	unknown	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Kif1b	T	A	4: 149,251,738		probably null	Het
Krtap28-10	CAGCCA	CAGCCATAGCCA	1: 83,042,128		probably benign	Het
Krtap28-10	AGCCAC	AGCCACCGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,253		probably benign	Het
Krtap28-10	AGCCACCACAGC	AGCCACCACAGCCACCGCCACCACAGC	1: 83,042,279		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816		probably benign	Het
Mical2	T	C	7: 112,323,626	Y613H	probably damaging	Het
Mlf2	C	A	6: 124,934,296	H91Q	probably benign	Het
Nat9	A	T	11: 115,183,386	I152N	probably damaging	Het
Olfr1248	A	T	2: 89,617,367	I275N	possibly damaging	Het
Olfr961	T	C	9: 39,647,263	M179T	probably benign	Het
Pdik1l	CACCAC	CACCACAACCAC	4: 134,279,511		probably benign	Het
Phldb2	T	C	16: 45,762,974	S1054G	probably damaging	Het
Pkhd1l1	TTTT	TTTTTTTTTTGTTT	15: 44,558,505		probably benign	Het
Plcg2	T	A	8: 117,573,524		probably null	Het
Prdm16	T	A	4: 154,341,995	R444S	probably damaging	Het
Rgs6	T	C	12: 83,063,449	F163L	probably damaging	Het
Rnaseh2a	A	T	8: 84,960,058	L154*	probably null	Het
Rpp38	A	G	2: 3,329,035	S277P	unknown	Het
Setd1a	GGTAGTGGT	GGTAGTGGTTGTAGTGGT	7: 127,785,314		probably benign	Het
Shisa6	CGACAGCAGCAGAG	CG	11: 66,525,923		probably benign	Het
Slc27a2	T	A	2: 126,553,255	L34Q	possibly damaging	Het
Slc7a6	G	A	8: 106,195,398	V386I	probably benign	Het
Spry1	C	T	3: 37,643,115	T169I	possibly damaging	Het
Sry	TGCTGCTGCTG	TGCTGCTGCTGCTG	Y: 2,662,826		probably benign	Het
Stk24	A	T	14: 121,294,760	I275N	probably benign	Het
Strn	TC	TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC	17: 78,677,287		probably null	Het
Tcp11l2	C	A	10: 84,613,524	P451Q	probably damaging	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,289		probably benign	Het
V1ra8	A	G	6: 90,203,609	T265A	probably benign	Het
Zfp106	CTCCTGGCAGT	CT	2: 120,524,545		probably benign	Het
Zfp612	C	A	8: 110,089,561	H467N	probably damaging	Het
Zfp777	A	T	6: 48,042,048	Y317*	probably null	Het
Znrd1as	CACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCAC	17: 36,965,054		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
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'- ACCTTCTGATGCTGGGACTG -3'

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

Posted On

2019-12-04