Mutagenetix > Incidental Mutation

Incidental Mutation 'R0409:Tfpt'

36513

Institutional Source

Beutler Lab

Gene Symbol

Tfpt

Ensembl Gene

ENSMUSG00000006335

Gene Name

TCF3 (E2A) fusion partner

Synonyms

FB1, Amida, 2400004F01Rik

MMRRC Submission

038611-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R0409 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

3623323-3632911 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 3623898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 50 (Q50*)

Ref Sequence

ENSEMBL: ENSMUSP00000145936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039507] [ENSMUST00000076657] [ENSMUST00000108641] [ENSMUST00000108644] [ENSMUST00000108645] [ENSMUST00000155592] [ENSMUST00000205596] [ENSMUST00000206370] [ENSMUST00000148012] [ENSMUST00000148403] [ENSMUST00000153143]

AlphaFold

Q3U1J1

Predicted Effect

probably benign
Transcript: ENSMUST00000039507

SMART Domains

Protein: ENSMUSP00000041306
Gene: ENSMUSG00000054594

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	43	126	1.03e0	SMART
internal_repeat_1	133	218	3.4e-10	PROSPERO

Predicted Effect

silent
Transcript: ENSMUST00000058880

SMART Domains

Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335

Domain	Start	End	E-Value	Type
low complexity region	51	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076657

SMART Domains

Protein: ENSMUSP00000075953
Gene: ENSMUSG00000035674

Domain	Start	End	E-Value	Type
Pfam:NADHdh_A3	1	84	1.2e-54	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108641
AA Change: Q170*

SMART Domains

Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
AA Change: Q170*

Domain	Start	End	E-Value	Type
low complexity region	58	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108644

SMART Domains

Protein: ENSMUSP00000104284
Gene: ENSMUSG00000035674

Domain	Start	End	E-Value	Type
Pfam:NADHdh_A3	1	100	1.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108645

SMART Domains

Protein: ENSMUSP00000104285
Gene: ENSMUSG00000054594

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	37	120	1.03e0	SMART
Pfam:Ig_2	128	215	4.7e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134683

Predicted Effect

probably null
Transcript: ENSMUST00000155592
AA Change: Q170*

SMART Domains

Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
AA Change: Q170*

Domain	Start	End	E-Value	Type
low complexity region	58	80	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000205596
AA Change: Q50*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156712

Predicted Effect

probably benign
Transcript: ENSMUST00000206370

Predicted Effect

probably benign
Transcript: ENSMUST00000148012

SMART Domains

Protein: ENSMUSP00000123672
Gene: ENSMUSG00000054594

Domain	Start	End	E-Value	Type
IG	26	109	1.03e0	SMART
Pfam:Ig_2	117	204	2.8e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148403

Predicted Effect

probably benign
Transcript: ENSMUST00000153143

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,816 (GRCm39)	A89S	probably damaging	Het
Alkbh3	T	A	2: 93,831,793 (GRCm39)	I146F	possibly damaging	Het
Aox1	A	T	1: 58,375,783 (GRCm39)	I871F	possibly damaging	Het
Birc2	A	C	9: 7,819,385 (GRCm39)	V509G	possibly damaging	Het
Car7	G	A	8: 105,275,056 (GRCm39)	A165T	probably damaging	Het
Ccdc81	A	G	7: 89,535,423 (GRCm39)	V271A	probably benign	Het
Cdc40	G	T	10: 40,723,164 (GRCm39)	H302N	probably damaging	Het
Cep104	C	T	4: 154,067,510 (GRCm39)		probably benign	Het
Cfap54	C	A	10: 92,612,075 (GRCm39)	S3161I	probably benign	Het
Chil5	A	G	3: 105,942,282 (GRCm39)		probably benign	Het
Chil6	C	T	3: 106,311,492 (GRCm39)	G96D	probably benign	Het
Cnot1	T	C	8: 96,475,483 (GRCm39)	K531E	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Disp3	T	G	4: 148,356,416 (GRCm39)	E148A	probably damaging	Het
Eps8l2	A	G	7: 140,922,893 (GRCm39)	Y52C	probably damaging	Het
Exph5	C	A	9: 53,285,643 (GRCm39)	T908K	probably benign	Het
Fat4	C	T	3: 39,031,562 (GRCm39)	S2449F	probably damaging	Het
Faxc	T	A	4: 21,948,751 (GRCm39)	N154K	probably benign	Het
Fbxo43	C	T	15: 36,162,503 (GRCm39)	A235T	probably benign	Het
Fnip1	A	G	11: 54,371,180 (GRCm39)		probably null	Het
Fsd1l	T	C	4: 53,679,932 (GRCm39)	L210P	probably benign	Het
Gm6420	A	C	1: 23,295,119 (GRCm39)	S123R	unknown	Het
Gm8801	T	G	17: 36,258,268 (GRCm39)		noncoding transcript	Het
Gmfb	T	C	14: 47,053,679 (GRCm39)	I36V	probably benign	Het
Gsap	G	A	5: 21,427,443 (GRCm39)		probably benign	Het
Hectd1	T	A	12: 51,829,339 (GRCm39)	I969L	possibly damaging	Het
Il21r	G	T	7: 125,229,012 (GRCm39)		probably benign	Het
Lrrc7	A	G	3: 157,867,063 (GRCm39)	F893L	possibly damaging	Het
Map2	A	G	1: 66,472,739 (GRCm39)	I1715V	probably damaging	Het
Mlh3	A	G	12: 85,287,628 (GRCm39)	I1339T	possibly damaging	Het
Nacad	T	C	11: 6,549,810 (GRCm39)	D1127G	probably benign	Het
Noc3l	A	G	19: 38,806,371 (GRCm39)		probably benign	Het
Nup93	A	G	8: 95,030,293 (GRCm39)	D384G	probably damaging	Het
Or5m9b	T	A	2: 85,905,646 (GRCm39)	C187*	probably null	Het
Or5p54	T	C	7: 107,554,433 (GRCm39)	I195T	probably benign	Het
Or8b40	C	T	9: 38,027,547 (GRCm39)	L152F	probably benign	Het
Pls1	A	T	9: 95,668,972 (GRCm39)		probably benign	Het
Prkcb	A	T	7: 122,024,200 (GRCm39)	H75L	probably damaging	Het
Rev1	A	T	1: 38,113,449 (GRCm39)	Y539*	probably null	Het
Rnf10	A	T	5: 115,393,506 (GRCm39)		probably benign	Het
Rnpepl1	A	G	1: 92,843,582 (GRCm39)	Y234C	probably damaging	Het
Sdk2	T	C	11: 113,741,717 (GRCm39)		probably benign	Het
Sec23b	T	A	2: 144,409,832 (GRCm39)	M240K	probably benign	Het
Sema5a	A	T	15: 32,681,755 (GRCm39)	N945Y	probably damaging	Het
Snapc4	C	A	2: 26,257,228 (GRCm39)	R799L	probably benign	Het
Spata31g1	A	C	4: 42,972,203 (GRCm39)	K512T	probably damaging	Het
Tctn3	T	C	19: 40,599,860 (GRCm39)		probably benign	Het
Tex56	A	T	13: 35,108,532 (GRCm39)	I5L	probably benign	Het
Trim80	T	C	11: 115,332,039 (GRCm39)	V77A	probably damaging	Het
Trp73	T	A	4: 154,148,841 (GRCm39)	D256V	possibly damaging	Het
Utrn	G	T	10: 12,519,345 (GRCm39)	N2202K	probably benign	Het
Vps13c	T	A	9: 67,858,926 (GRCm39)	F2792Y	probably benign	Het

Other mutations in Tfpt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02156:Tfpt	APN	7	3,632,039 (GRCm39)	missense	probably damaging	1.00
IGL02267:Tfpt	APN	7	3,631,982 (GRCm39)	missense	probably damaging	1.00
R2122:Tfpt	UTSW	7	3,631,930 (GRCm39)	missense	probably damaging	1.00
R4211:Tfpt	UTSW	7	3,623,386 (GRCm39)	missense	probably damaging	1.00
R6194:Tfpt	UTSW	7	3,632,026 (GRCm39)	missense	probably damaging	1.00
R6257:Tfpt	UTSW	7	3,632,566 (GRCm39)	nonsense	probably null
R6659:Tfpt	UTSW	7	3,623,835 (GRCm39)	missense	probably benign	0.28
R7703:Tfpt	UTSW	7	3,623,744 (GRCm39)	critical splice donor site	probably null
R8445:Tfpt	UTSW	7	3,623,928 (GRCm39)	missense	probably damaging	1.00
R8518:Tfpt	UTSW	7	3,632,065 (GRCm39)	missense	possibly damaging	0.72
R9056:Tfpt	UTSW	7	3,627,604 (GRCm39)	missense	probably null	0.76
R9675:Tfpt	UTSW	7	3,623,981 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCAACCCAGTGTTGCCAGTC -3'
(R):5'- AGCCAGTTCACCATTGTGTTGGAG -3'

Sequencing Primer
(F):5'- AGTGTTGCCAGTCTGCCC -3'
(R):5'- CACCATTGTGTTGGAGGTGAG -3'

Posted On

2013-05-09