Mutagenetix > Incidental Mutation

Incidental Mutation 'R5896:Tfeb'

457562

Institutional Source

Beutler Lab

Gene Symbol

Tfeb

Ensembl Gene

ENSMUSG00000023990

Gene Name

transcription factor EB

Synonyms

bHLHe35, TFEB, Tcfeb

MMRRC Submission

044095-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5896 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

47737030-47792419 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 47759508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086932] [ENSMUST00000113284] [ENSMUST00000113288] [ENSMUST00000125177] [ENSMUST00000126258] [ENSMUST00000130208] [ENSMUST00000137845]

AlphaFold

Q9R210

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 null
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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

99% (86/87)

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
2310061N02Rik	A	T	16: 88,707,433	S159T	probably damaging	Het
2610028H24Rik	T	A	10: 76,452,830	M53K	probably benign	Het
3425401B19Rik	G	A	14: 32,661,675	Q778*	probably null	Het
Abhd16a	T	A	17: 35,091,725		probably benign	Het
Acp6	A	G	3: 97,168,494	K226R	probably benign	Het
Ankfy1	A	G	11: 72,759,985	D998G	probably damaging	Het
Apbb1	G	T	7: 105,574,225	P60T	probably damaging	Het
Apol9a	T	A	15: 77,404,505	I221F	probably benign	Het
Arhgap29	A	G	3: 122,012,087	E947G	possibly damaging	Het
B430218F22Rik	A	T	13: 118,387,398		probably benign	Het
BC003331	A	T	1: 150,380,360	N211K	probably benign	Het
Carmil3	ACCCCC	ACCCCCCC	14: 55,503,999		probably null	Het
Ccdc69	C	T	11: 55,052,890		probably null	Het
Ccdc93	G	T	1: 121,463,120	V274L	possibly damaging	Het
Cdc25a	A	G	9: 109,884,365	D191G	probably benign	Het
Cmya5	A	G	13: 93,045,865		probably null	Het
Crebzf	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	7: 90,443,271		probably benign	Het
Csde1	T	C	3: 103,040,543		probably benign	Het
Ctdp1	A	G	18: 80,458,788	L177P	probably damaging	Het
Dnah5	T	A	15: 28,272,060	H1003Q	probably benign	Het
Epb41l2	T	A	10: 25,493,596	N604K	probably damaging	Het
Fam166a	A	T	2: 25,220,566	M129L	probably benign	Het
Fig4	T	A	10: 41,254,885	N465Y	possibly damaging	Het
Gemin7	G	A	7: 19,565,298	S124F	probably damaging	Het
Gli3	G	A	13: 15,726,180	R1384K	probably benign	Het
Gm11127	T	A	17: 36,056,344	M329L	probably benign	Het
Gm12258	G	A	11: 58,859,631	C544Y	probably damaging	Het
Grm1	C	T	10: 11,080,550		probably benign	Het
Hps4	C	T	5: 112,369,485	T246I	probably benign	Het
Ifngr2	A	T	16: 91,561,765	E284D	possibly damaging	Het
Impdh2	A	G	9: 108,563,966	T148A	probably benign	Het
Irx3	T	C	8: 91,801,135	S36G	probably benign	Het
Itga5	T	A	15: 103,351,087	K667N	probably benign	Het
Itgad	G	A	7: 128,174,016	C15Y	probably benign	Het
Ly75	T	G	2: 60,383,146	E29A	probably benign	Het
Magi1	T	A	6: 93,708,199	S506C	probably damaging	Het
Map4	G	A	9: 110,072,634	V781M	possibly damaging	Het
Med23	T	C	10: 24,902,145	L797P	probably damaging	Het
Naip1	C	T	13: 100,423,128	G1123R	probably benign	Het
Ncor1	G	T	11: 62,383,190	P55Q	probably damaging	Het
Ofcc1	T	A	13: 40,180,584	I344F	probably benign	Het
Olfr1161	A	G	2: 88,025,121	Y133C	probably damaging	Het
Olfr1247	C	A	2: 89,609,323	V260F	probably damaging	Het
Olfr173	G	A	16: 58,797,732	T38I	probably damaging	Het
Olfr984	A	T	9: 40,100,893	M199K	probably damaging	Het
Otub2	C	T	12: 103,403,428		probably benign	Het
Parva	A	G	7: 112,544,753	M83V	probably benign	Het
Pcdha8	T	A	18: 36,993,519	N351K	probably benign	Het
Pcdhb5	T	A	18: 37,322,679	L704*	probably null	Het
Pkd1l3	T	A	8: 109,626,836	L683H	probably damaging	Het
Plekhn1	C	T	4: 156,223,874	R288H	probably benign	Het
Polr2a	A	T	11: 69,736,260	N1457K	probably damaging	Het
Ppp1r12b	A	G	1: 134,765,981	S981P	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,648	K1062E	probably damaging	Het
Ptpre	A	T	7: 135,674,278	T498S	probably benign	Het
Pus7l	C	T	15: 94,529,451		probably null	Het
Rptn	C	T	3: 93,398,332	Q991*	probably null	Het
Rsu1	T	G	2: 13,224,359	E76A	probably damaging	Het
Sept11	T	A	5: 93,156,965	F214I	probably damaging	Het
Slc1a7	G	T	4: 108,012,390	A551S	probably benign	Het
Slc45a2	T	A	15: 11,000,855	Y13*	probably null	Het
Slc7a14	T	G	3: 31,257,570	L100F	probably damaging	Het
Slit3	A	G	11: 35,708,105	E1512G	probably damaging	Het
Stat5a	A	G	11: 100,877,057	Q458R	possibly damaging	Het
Svep1	T	C	4: 58,084,906	T1811A	possibly damaging	Het
Tarbp1	A	G	8: 126,452,928	F624L	probably benign	Het
Tnxb	G	A	17: 34,672,152	G490R	probably damaging	Het
Tra2b	T	C	16: 22,259,203	Y32C	probably damaging	Het
Trpv4	C	T	5: 114,622,647		probably benign	Het
Uvrag	A	T	7: 98,988,207	L138*	probably null	Het
Vwf	A	T	6: 125,678,762		probably null	Het
Wdr47	G	A	3: 108,619,006	D282N	probably damaging	Het
Xirp2	A	G	2: 67,508,698	M428V	probably benign	Het
Xirp2	A	G	2: 67,509,946	N844D	possibly damaging	Het
Znfx1	G	A	2: 167,039,000	T288I	probably damaging	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
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'- GTAGTTCACAAATCCCAGATACAG -3'
(R):5'- CTGCATGCACAACACAGGTC -3'

Sequencing Primer
(F):5'- CAAATGGAATTTCTGGGGGCAGTC -3'
(R):5'- GGTCACCCACCAGCCAG -3'

Posted On

2017-02-15