Mutagenetix > Incidental Mutation

Incidental Mutation 'R6659:Tfpt'

526760

Institutional Source

Beutler Lab

Gene Symbol

Tfpt

Ensembl Gene

ENSMUSG00000006335

Gene Name

TCF3 (E2A) fusion partner

Synonyms

FB1, Amida, 2400004F01Rik

MMRRC Submission

044779-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R6659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3623323-3632911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3623835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 71 (K71E)

Ref Sequence

ENSEMBL: ENSMUSP00000145936 (fasta)

Gene Model

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

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

probably benign
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 benign
Transcript: ENSMUST00000108641
AA Change: K191E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
AA Change: K191E

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 benign
Transcript: ENSMUST00000155592
AA Change: K191E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
AA Change: K191E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205596
AA Change: K71E

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000148403

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

noncoding transcript
Transcript: ENSMUST00000156712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150497

Predicted Effect

probably benign
Transcript: ENSMUST00000153143

Predicted Effect

probably benign
Transcript: ENSMUST00000206370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156194

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,950,133 (GRCm39)	D212G	probably damaging	Het
Add1	C	T	5: 34,770,639 (GRCm39)	A250V	possibly damaging	Het
Atxn2	A	G	5: 121,916,027 (GRCm39)	N411S	probably benign	Het
AW551984	T	C	9: 39,500,395 (GRCm39)	T788A	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ddx46	A	G	13: 55,817,537 (GRCm39)	T721A	probably damaging	Het
Eif2b1	G	A	5: 124,717,171 (GRCm39)		probably benign	Het
Eif4g3	A	G	4: 137,905,243 (GRCm39)	K1241E	probably damaging	Het
Engase	T	A	11: 118,372,142 (GRCm39)	Y145N	probably benign	Het
Fbrs	C	A	7: 127,087,091 (GRCm39)	A674D	probably damaging	Het
Gm4884	G	A	7: 40,694,046 (GRCm39)	G672R	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Iars2	T	A	1: 185,020,273 (GRCm39)	I954F	possibly damaging	Het
Itgad	A	T	7: 127,785,120 (GRCm39)	I310F	probably damaging	Het
Kcnmb3	A	G	3: 32,526,594 (GRCm39)	V199A	possibly damaging	Het
Kctd12	G	T	14: 103,219,622 (GRCm39)	D85E	probably damaging	Het
Lama1	G	A	17: 68,125,630 (GRCm39)	R2929H	probably damaging	Het
Lgmn	T	A	12: 102,368,951 (GRCm39)	Y176F	probably benign	Het
Lipo3	A	G	19: 33,533,828 (GRCm39)	F335L	possibly damaging	Het
Map2k3	T	C	11: 60,833,150 (GRCm39)	S46P	probably benign	Het
Megf8	C	A	7: 25,058,159 (GRCm39)	H2144Q	probably benign	Het
Neb	A	T	2: 52,124,365 (GRCm39)	W3694R	probably damaging	Het
Nek10	A	G	14: 14,861,684 (GRCm38)	E580G	probably benign	Het
Obscn	G	A	11: 58,929,835 (GRCm39)	P5930S	probably damaging	Het
Palld	A	G	8: 61,986,477 (GRCm39)	F621L	probably benign	Het
Pkn2	A	T	3: 142,509,348 (GRCm39)	I732N	probably damaging	Het
Plpbp	T	A	8: 27,542,307 (GRCm39)	I214N	possibly damaging	Het
Ppp1r37	A	G	7: 19,266,048 (GRCm39)	S573P	probably benign	Het
Prg4	C	A	1: 150,336,432 (GRCm39)	C97F	probably damaging	Het
Prmt2	T	C	10: 76,053,208 (GRCm39)	D269G	possibly damaging	Het
Ptbp3	T	A	4: 59,517,640 (GRCm39)	L80F	probably damaging	Het
Reep1	T	A	6: 71,750,179 (GRCm39)	F64I	probably damaging	Het
Srcap	C	A	7: 127,141,563 (GRCm39)	P1720Q	probably damaging	Het
Ssr1	A	T	13: 38,171,666 (GRCm39)	F124I	probably damaging	Het
Tbx18	A	G	9: 87,589,864 (GRCm39)	L358P	probably damaging	Het
Tmem132a	C	A	19: 10,837,685 (GRCm39)	G542C	probably damaging	Het
Tmem135	C	A	7: 88,956,371 (GRCm39)	L81F	probably benign	Het
Tmem135	A	T	7: 88,956,372 (GRCm39)	L81*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Washc5	A	G	15: 59,212,739 (GRCm39)		probably null	Het
Zfp24	T	C	18: 24,150,391 (GRCm39)	E173G	possibly damaging	Het
Zgrf1	T	C	3: 127,410,155 (GRCm39)	I1814T	probably damaging	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
R0409:Tfpt	UTSW	7	3,623,898 (GRCm39)	nonsense	probably null
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
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'- CAAGCACTAGCCTGGTTTTCC -3'
(R):5'- TGGGGAATCCAGGAGTCTTTAAC -3'

Sequencing Primer
(F):5'- ACTCCTCTATCCTACCTGATAGCAAC -3'
(R):5'- GGAGTCTTTAACCGCCACCATG -3'

Posted On

2018-07-23