Mutagenetix > Incidental Mutation

Incidental Mutation 'R4948:Tfeb'

383630

Institutional Source

Beutler Lab

Gene Symbol

Tfeb

Ensembl Gene

ENSMUSG00000023990

Gene Name

transcription factor EB

Synonyms

Tcfeb, TFEB, bHLHe35

MMRRC Submission

042545-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4948 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

48047962-48103341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48096904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 33 (T33I)

Ref Sequence

ENSEMBL: ENSMUSP00000121888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024786] [ENSMUST00000086932] [ENSMUST00000113284] [ENSMUST00000113288] [ENSMUST00000125177] [ENSMUST00000126258] [ENSMUST00000160373] [ENSMUST00000130208] [ENSMUST00000159641] [ENSMUST00000146782] [ENSMUST00000137845] [ENSMUST00000141631]

AlphaFold

Q9R210

Predicted Effect

probably benign
Transcript: ENSMUST00000024786
AA Change: T57I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990
AA Change: T57I

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
AA Change: T33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121888
Gene: ENSMUSG00000023990
AA Change: T33I

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

noncoding transcript
Transcript: ENSMUST00000162719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140715

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

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: 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: 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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,154 (GRCm39)		probably null	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Alas1	A	T	9: 106,124,077 (GRCm39)	L27*	probably null	Het
Aldh1a7	A	G	19: 20,704,374 (GRCm39)	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,587,894 (GRCm39)	M38L	probably benign	Het
Brd8	A	G	18: 34,747,585 (GRCm39)	V92A	probably damaging	Het
Btla	A	T	16: 45,063,091 (GRCm39)	E151D	probably benign	Het
Cd79b	T	A	11: 106,203,687 (GRCm39)	T67S	probably benign	Het
Cep192	A	G	18: 67,949,875 (GRCm39)	R320G	probably benign	Het
Chad	A	C	11: 94,456,528 (GRCm39)	D202A	probably damaging	Het
Chil6	A	G	3: 106,295,988 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,674,748 (GRCm39)	E167G	possibly damaging	Het
Crisp2	T	G	17: 41,076,159 (GRCm39)	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,010,138 (GRCm39)	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,201,724 (GRCm39)	L49H	probably damaging	Het
Dnah6	T	A	6: 73,030,672 (GRCm39)	H3380L	probably benign	Het
Dnai3	T	A	3: 145,788,820 (GRCm39)	K254*	probably null	Het
Dnm2	A	G	9: 21,415,829 (GRCm39)	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,293,404 (GRCm39)	T15K	probably benign	Het
Dock3	A	T	9: 106,868,354 (GRCm39)	D643E	probably damaging	Het
Ear6	C	T	14: 52,091,573 (GRCm39)	T40I	possibly damaging	Het
Fancm	A	G	12: 65,137,748 (GRCm39)	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,267,415 (GRCm39)	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,283,691 (GRCm39)	E393D	probably benign	Het
Fryl	T	A	5: 73,246,473 (GRCm39)	M1100L	probably benign	Het
Gjd3	T	C	11: 102,691,247 (GRCm39)	H252R	probably damaging	Het
Gm10518	T	C	1: 179,631,477 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,580,656 (GRCm39)	M165V	probably benign	Het
Hells	C	A	19: 38,923,966 (GRCm39)	Q72K	probably damaging	Het
Herc1	A	G	9: 66,392,184 (GRCm39)	I4031V	probably benign	Het
Hspa2	C	T	12: 76,452,761 (GRCm39)	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,157,438 (GRCm39)	I70F	probably benign	Het
Il20rb	A	T	9: 100,343,592 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,487,236 (GRCm39)	V498A	probably damaging	Het
Krt1	C	A	15: 101,754,376 (GRCm39)	V625L	unknown	Het
Lamc3	T	C	2: 31,830,748 (GRCm39)	I1495T	probably benign	Het
Larp6	A	G	9: 60,645,063 (GRCm39)	E401G	possibly damaging	Het
Ldha	A	T	7: 46,496,805 (GRCm39)	H19L	probably benign	Het
Lrba	A	G	3: 86,192,335 (GRCm39)	N83S	probably damaging	Het
Lrp4	G	T	2: 91,316,231 (GRCm39)	R783L	probably benign	Het
Lrrk2	T	G	15: 91,687,592 (GRCm39)	I2227S	probably benign	Het
Lvrn	T	C	18: 47,013,803 (GRCm39)	L495P	probably damaging	Het
Macf1	T	C	4: 123,391,548 (GRCm39)	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,425,213 (GRCm39)	T425A	probably damaging	Het
Mcam	A	G	9: 44,047,863 (GRCm39)	E36G	probably damaging	Het
Meis1	T	A	11: 18,966,308 (GRCm39)	T22S	probably benign	Het
Micu1	A	G	10: 59,699,076 (GRCm39)	K451R	possibly damaging	Het
Nat8	A	T	6: 85,807,505 (GRCm39)	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,534,274 (GRCm39)	R56*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or5b99	A	T	19: 12,977,195 (GRCm39)	T282S	probably benign	Het
Or5g25	T	C	2: 85,477,916 (GRCm39)	I250V	probably benign	Het
Or5h24	G	A	16: 58,919,340 (GRCm39)	T5I	probably damaging	Het
Palm3	A	T	8: 84,753,708 (GRCm39)	R132*	probably null	Het
Pax2	A	G	19: 44,804,479 (GRCm39)	Y272C	probably damaging	Het
Phc2	G	A	4: 128,616,908 (GRCm39)	A394T	probably benign	Het
Phf2	C	A	13: 48,961,198 (GRCm39)	G831C	unknown	Het
Pik3c2b	G	A	1: 133,027,453 (GRCm39)		probably null	Het
Plin2	T	A	4: 86,580,228 (GRCm39)	I178F	probably benign	Het
Pramel32	A	T	4: 88,547,185 (GRCm39)	L162H	probably damaging	Het
Prdm14	T	A	1: 13,192,855 (GRCm39)	I295F	probably damaging	Het
Psmd5	C	T	2: 34,760,795 (GRCm39)	R47H	probably benign	Het
Ptchd3	T	A	11: 121,733,342 (GRCm39)	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,666,557 (GRCm39)		probably benign	Het
Rab6a	A	G	7: 100,277,627 (GRCm39)	D49G	probably damaging	Het
Radil	A	T	5: 142,470,994 (GRCm39)	D1062E	probably benign	Het
Robo2	A	G	16: 74,149,726 (GRCm39)	V34A	possibly damaging	Het
Sall3	G	A	18: 81,014,626 (GRCm39)	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,018,101 (GRCm39)	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,086,086 (GRCm39)	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,656,010 (GRCm39)	V406A	probably damaging	Het
Sf3b3	T	C	8: 111,540,301 (GRCm39)	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,870,262 (GRCm39)	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,820,410 (GRCm39)	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,716,336 (GRCm39)	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,331,330 (GRCm39)	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283 (GRCm38)	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,610,708 (GRCm39)	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc6a12	A	G	6: 121,332,281 (GRCm39)	D205G	probably benign	Het
Tas2r115	G	A	6: 132,714,124 (GRCm39)	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,704,318 (GRCm39)	I205N	probably damaging	Het
Tgm3	A	G	2: 129,890,240 (GRCm39)	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,259 (GRCm39)	V201A	probably benign	Het
Tpcn1	T	A	5: 120,694,596 (GRCm39)	M158L	probably benign	Het
Trim47	A	C	11: 115,996,918 (GRCm39)	L612R	probably damaging	Het
Trmt10c	A	T	16: 55,854,438 (GRCm39)	L399*	probably null	Het
Trpm2	A	T	10: 77,753,626 (GRCm39)	S1293T	probably benign	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,455,871 (GRCm39)	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883 (GRCm39)	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,254,990 (GRCm39)	E565K	probably damaging	Het
Vmn2r97	T	C	17: 19,167,561 (GRCm39)	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,375,487 (GRCm39)	V399A	probably damaging	Het
Wnk4	G	A	11: 101,159,107 (GRCm39)	R508Q	probably damaging	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp616	T	A	11: 73,974,830 (GRCm39)	N457K	possibly damaging	Het

Other mutations in Tfeb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Tfeb	APN	17	48,102,589 (GRCm39)	missense	probably benign	0.10
IGL03248:Tfeb	APN	17	48,097,920 (GRCm39)	missense	probably benign
IGL03280:Tfeb	APN	17	48,096,862 (GRCm39)	missense	probably benign
FR4304:Tfeb	UTSW	17	48,097,019 (GRCm39)	small insertion	probably benign
FR4976:Tfeb	UTSW	17	48,097,019 (GRCm39)	small insertion	probably benign
R0414:Tfeb	UTSW	17	48,099,224 (GRCm39)	splice site	probably null
R1712:Tfeb	UTSW	17	48,099,911 (GRCm39)	critical splice donor site	probably null
R2014:Tfeb	UTSW	17	48,102,484 (GRCm39)	missense	probably damaging	0.97
R2101:Tfeb	UTSW	17	48,100,590 (GRCm39)	missense	probably damaging	1.00
R4283:Tfeb	UTSW	17	48,100,699 (GRCm39)	missense	probably damaging	1.00
R4734:Tfeb	UTSW	17	48,096,787 (GRCm39)	missense	probably benign	0.33
R4785:Tfeb	UTSW	17	48,099,152 (GRCm39)	splice site	probably null
R5896:Tfeb	UTSW	17	48,070,433 (GRCm39)	critical splice donor site	probably null
R6522:Tfeb	UTSW	17	48,100,627 (GRCm39)	missense	probably damaging	1.00
R6804:Tfeb	UTSW	17	48,100,735 (GRCm39)	critical splice donor site	probably null
R6836:Tfeb	UTSW	17	48,097,123 (GRCm39)	critical splice donor site	probably null
R6923:Tfeb	UTSW	17	48,097,908 (GRCm39)	missense	probably benign	0.11
RF002:Tfeb	UTSW	17	48,097,027 (GRCm39)	small insertion	probably benign
RF003:Tfeb	UTSW	17	48,099,003 (GRCm39)	missense	possibly damaging	0.86
RF006:Tfeb	UTSW	17	48,097,038 (GRCm39)	small insertion	probably benign
RF008:Tfeb	UTSW	17	48,097,027 (GRCm39)	small insertion	probably benign
RF010:Tfeb	UTSW	17	48,097,032 (GRCm39)	small insertion	probably benign
RF010:Tfeb	UTSW	17	48,097,019 (GRCm39)	small insertion	probably benign
RF018:Tfeb	UTSW	17	48,097,020 (GRCm39)	small insertion	probably benign
RF022:Tfeb	UTSW	17	48,097,019 (GRCm39)	small insertion	probably benign
RF025:Tfeb	UTSW	17	48,097,013 (GRCm39)	small insertion	probably benign
RF028:Tfeb	UTSW	17	48,097,022 (GRCm39)	small insertion	probably benign
RF030:Tfeb	UTSW	17	48,097,036 (GRCm39)	small insertion	probably benign
RF030:Tfeb	UTSW	17	48,097,037 (GRCm39)	small insertion	probably benign
RF030:Tfeb	UTSW	17	48,097,038 (GRCm39)	small insertion	probably benign
RF034:Tfeb	UTSW	17	48,097,023 (GRCm39)	nonsense	probably null
RF034:Tfeb	UTSW	17	48,097,022 (GRCm39)	small insertion	probably benign
RF035:Tfeb	UTSW	17	48,097,036 (GRCm39)	small insertion	probably benign
RF036:Tfeb	UTSW	17	48,097,028 (GRCm39)	small insertion	probably benign
RF038:Tfeb	UTSW	17	48,097,037 (GRCm39)	small insertion	probably benign
RF038:Tfeb	UTSW	17	48,097,030 (GRCm39)	small insertion	probably benign
RF039:Tfeb	UTSW	17	48,097,035 (GRCm39)	nonsense	probably null
RF039:Tfeb	UTSW	17	48,097,020 (GRCm39)	small insertion	probably benign
RF040:Tfeb	UTSW	17	48,097,036 (GRCm39)	small insertion	probably benign
RF040:Tfeb	UTSW	17	48,097,035 (GRCm39)	small insertion	probably benign
RF040:Tfeb	UTSW	17	48,097,022 (GRCm39)	small insertion	probably benign
RF040:Tfeb	UTSW	17	48,097,037 (GRCm39)	small insertion	probably benign
RF041:Tfeb	UTSW	17	48,097,025 (GRCm39)	small insertion	probably benign
RF042:Tfeb	UTSW	17	48,097,022 (GRCm39)	small insertion	probably benign
RF047:Tfeb	UTSW	17	48,097,041 (GRCm39)	small insertion	probably benign
RF047:Tfeb	UTSW	17	48,097,031 (GRCm39)	small insertion	probably benign
RF053:Tfeb	UTSW	17	48,097,039 (GRCm39)	small insertion	probably benign
RF054:Tfeb	UTSW	17	48,097,023 (GRCm39)	nonsense	probably null
RF060:Tfeb	UTSW	17	48,097,031 (GRCm39)	small insertion	probably benign
RF061:Tfeb	UTSW	17	48,097,017 (GRCm39)	small insertion	probably benign
RF062:Tfeb	UTSW	17	48,097,025 (GRCm39)	small insertion	probably benign
Z1177:Tfeb	UTSW	17	48,102,569 (GRCm39)	missense	possibly damaging	0.74
Z1177:Tfeb	UTSW	17	48,097,449 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGATGTGGATGTGACAGC -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'

Sequencing Primer
(F):5'- TGAAGGACAGTGTTCACCTC -3'
(R):5'- ACTCCTCTACAGGGAGCAG -3'

Posted On

2016-04-27