Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02156:Tfpt'

282226

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tfpt

Ensembl Gene

ENSMUSG00000006335

Gene Name

TCF3 (E2A) fusion partner

Synonyms

FB1, Amida, 2400004F01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

IGL02156

Quality Score

Status

Chromosome

Chromosomal Location

3623323-3632911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3632039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 24 (S24P)

Ref Sequence

ENSEMBL: ENSMUSP00000123636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000108641] [ENSMUST00000125782] [ENSMUST00000206370] [ENSMUST00000155592] [ENSMUST00000153143] [ENSMUST00000205596] [ENSMUST00000179769]

AlphaFold

Q3U1J1

Predicted Effect

probably benign
Transcript: ENSMUST00000008517

SMART Domains

Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
low complexity region	287	298	N/A	INTRINSIC
Pfam:Prp31_C	337	465	1.6e-48	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000058880
AA Change: S16P

SMART Domains

Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335
AA Change: S16P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108636

SMART Domains

Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
Pfam:Nop	186	328	4.9e-46	PFAM
Pfam:Prp31_C	330	459	4.1e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108641
AA Change: S24P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
AA Change: S24P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148641

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206370
AA Change: S24P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000155592
AA Change: S24P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
AA Change: S24P

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

Predicted Effect

silent
Transcript: ENSMUST00000153143

Predicted Effect

probably benign
Transcript: ENSMUST00000205596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156194

Predicted Effect

probably benign
Transcript: ENSMUST00000179769

SMART Domains

Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
Pfam:Nop	186	328	4.9e-46	PFAM
Pfam:Prp31_C	330	459	4.1e-50	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,837,566 (GRCm39)		noncoding transcript	Het
Adam33	G	A	2: 130,895,078 (GRCm39)		probably benign	Het
Akr7a5	C	A	4: 139,041,580 (GRCm39)	A163D	probably damaging	Het
Arap1	T	C	7: 101,037,937 (GRCm39)		probably benign	Het
Asf1a	C	T	10: 53,482,239 (GRCm39)	A17V	probably benign	Het
Atp1a4	A	T	1: 172,085,529 (GRCm39)	S25T	probably benign	Het
Cbln4	T	C	2: 171,884,128 (GRCm39)	I31V	probably benign	Het
Ccdc93	T	G	1: 121,376,005 (GRCm39)	L172R	possibly damaging	Het
Ceacam9	T	C	7: 16,457,544 (GRCm39)		probably benign	Het
Crhr1	C	A	11: 104,054,709 (GRCm39)	N107K	probably benign	Het
Cyp11b1	T	A	15: 74,707,646 (GRCm39)	M488L	probably benign	Het
Dnah7a	A	G	1: 53,458,882 (GRCm39)	V3752A	probably benign	Het
Dnhd1	G	A	7: 105,370,951 (GRCm39)	V4744M	probably damaging	Het
Dstyk	C	A	1: 132,377,664 (GRCm39)	N423K	probably benign	Het
Exph5	T	C	9: 53,286,941 (GRCm39)	S1341P	probably damaging	Het
Fam161b	T	C	12: 84,401,527 (GRCm39)	H409R	probably benign	Het
Fbxo21	A	G	5: 118,132,733 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,618,551 (GRCm39)	I230T	probably damaging	Het
Gm9931	T	C	1: 147,157,366 (GRCm39)		noncoding transcript	Het
Grk6	T	C	13: 55,597,174 (GRCm39)	F36L	possibly damaging	Het
Grm1	G	T	10: 10,595,720 (GRCm39)	A636D	probably damaging	Het
Hectd1	A	T	12: 51,800,916 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,146,971 (GRCm39)	V577I	possibly damaging	Het
Hrob	C	T	11: 102,145,865 (GRCm39)	S47F	probably damaging	Het
Lrrc8c	A	G	5: 105,755,359 (GRCm39)	D378G	probably damaging	Het
Mcoln1	C	A	8: 3,562,657 (GRCm39)	S6*	probably null	Het
Meis1	A	T	11: 18,961,292 (GRCm39)	S194T	probably benign	Het
Myo1h	A	C	5: 114,491,972 (GRCm39)		probably benign	Het
Nop9	T	A	14: 55,990,740 (GRCm39)	C557*	probably null	Het
Nrap	T	C	19: 56,309,432 (GRCm39)	D1619G	probably damaging	Het
Or10d1c	T	A	9: 38,893,842 (GRCm39)	Y166F	possibly damaging	Het
Or4f61	A	T	2: 111,922,361 (GRCm39)	H228Q	probably benign	Het
Or7g34	A	G	9: 19,478,494 (GRCm39)	M59T	probably damaging	Het
Pard3b	T	A	1: 61,807,109 (GRCm39)	D41E	possibly damaging	Het
Parp14	G	T	16: 35,678,967 (GRCm39)	Q334K	probably benign	Het
Phf3	A	T	1: 30,847,859 (GRCm39)	I1228K	probably damaging	Het
Polr1b	T	A	2: 128,965,799 (GRCm39)	F814I	probably benign	Het
Prr5	A	G	15: 84,654,236 (GRCm39)	I306V	possibly damaging	Het
Rsph1	T	G	17: 31,477,090 (GRCm39)	S282R	probably benign	Het
Son	T	C	16: 91,452,992 (GRCm39)	S580P	possibly damaging	Het
Sptbn5	G	T	2: 119,878,098 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,491,095 (GRCm39)		probably null	Het
Tg	A	G	15: 66,577,197 (GRCm39)	T1507A	probably benign	Het
Trpm7	A	G	2: 126,641,163 (GRCm39)		probably benign	Het
Wwox	G	A	8: 115,174,899 (GRCm39)		probably null	Het
Ythdf2	C	T	4: 131,931,819 (GRCm39)	R447H	possibly damaging	Het
Zfp385c	A	G	11: 100,519,845 (GRCm39)	F368S	probably damaging	Het
Zfp488	A	G	14: 33,692,357 (GRCm39)	S269P	possibly damaging	Het
Zhx1	A	C	15: 57,917,445 (GRCm39)	V267G	possibly damaging	Het

Other mutations in Tfpt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16