Mutagenetix > Incidental Mutations

Incidental Mutation 'RF018:Tfeb'

603708

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 #

RF018 (G1)

Quality Score

121.467

Status

Not validated

Chromosome

Chromosomal Location

47737030-47792419 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CAG to CAGGAG at 47786095 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: 99.3%
20x: 98.6%

Validation Efficiency

100% (54/54)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,913,572		probably benign	Het
Abca15	T	A	7: 120,394,460	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,552,109	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,285,270	V469A	probably damaging	Het
Alk	T	A	17: 71,949,813	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,912		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,512,926		probably null	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
C130060K24Rik	T	A	6: 65,456,190	Y331*	probably null	Het
Ccdc81	C	A	7: 89,866,698		probably null	Het
Cd209g	A	G	8: 4,137,398	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,045,369	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,232,804		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
Eif5b	A	T	1: 38,021,592		probably null	Het
Ell2	C	A	13: 75,763,608	H338N	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,762,166		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gnat2	T	C	3: 108,096,329	S107P	unknown	Het
Guk1	T	A	11: 59,186,408	D70V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,042,253		probably benign	Het
Lamp3	A	C	16: 19,701,250	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 74,947,555		probably null	Het
Lrp1b	C	T	2: 41,110,907	E2216K		Het
Lrrc27	A	G	7: 139,226,100	D227G	probably benign	Het
Lrrk1	C	T	7: 66,381,502	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,244,351	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,390,232		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,849		probably benign	Het
Mpo	G	C	11: 87,797,639	A375P	probably damaging	Het
Myo9a	A	G	9: 59,869,586	H1089R	probably benign	Het
Ndufc2	T	C	7: 97,407,021	*109Q	probably null	Het
Nudt16	A	T	9: 105,131,699	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,549,813		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,627,578		probably benign	Het
Olfr697	T	A	7: 106,741,485	I150F	probably benign	Het
P2ry12	T	A	3: 59,217,412	T281S	probably benign	Het
P4ha2	TGTTGG	T	11: 54,110,246		probably null	Het
Pcnx2	A	G	8: 125,877,519	V666A	probably damaging	Het
Pde6a	T	A	18: 61,231,403	I177N	possibly damaging	Het
Pgm2	A	T	4: 99,962,303		probably null	Het
Plce1	T	A	19: 38,717,207	W1019R	probably damaging	Het
Plch1	C	A	3: 63,721,215	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,796,637	Q113R	not run	Het
Postn	A	T	3: 54,384,492	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,131,614		probably benign	Het
Prkab1	T	C	5: 116,021,630	E59G	probably damaging	Het
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Het
Rassf6	AGCAATGGGGATTC	AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC	5: 90,608,929		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,314,014		probably benign	Het
Ros1	T	A	10: 52,155,121	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,318,517		probably null	Het
Sectm1b	A	G	11: 121,054,930	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,609,203		probably null	Het
Slc28a1	T	A	7: 81,169,284		probably null	Het
Sphk1	G	C	11: 116,534,945	S42T	possibly damaging	Het
Spta1	T	C	1: 174,209,319	L1132P	probably damaging	Het
Srrt	A	T	5: 137,300,000	N303K	probably benign	Het
Ssh2	A	G	11: 77,454,054	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,677,283		probably null	Het
Tchhl1	T	C	3: 93,470,384	F132L	probably benign	Het
Tex14	A	G	11: 87,514,746	E828G	probably benign	Het
Tmem28	CGCCGC	CGCCGCTGCCGC	X: 99,821,361		probably benign	Het
Tmtc1	T	C	6: 148,247,511	Y699C	probably damaging	Het
Ubn1	A	G	16: 5,064,392	Y239C	probably damaging	Het
Vmn2r23	T	G	6: 123,713,116	L317R	probably benign	Het
Vmn2r78	C	T	7: 86,954,431	R606*	probably null	Het
Vps72	T	G	3: 95,121,408		probably null	Het
Zc3h11a	A	G	1: 133,627,115	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,036,489		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,680,771		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,920,949		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	47786094	small insertion	probably benign
RF010:Tfeb	UTSW	17	47786107	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