Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02267:Tfpt'

286944

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 #

IGL02267

Quality Score

Status

Chromosome

Chromosomal Location

3623323-3632911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3631982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 43 (T43A)

Ref Sequence

ENSEMBL: ENSMUSP00000123636 (fasta)

Gene Model

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

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: T35A

SMART Domains

Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335
AA Change: T35A

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: T43A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
AA Change: T43A

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: T43A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000155592
AA Change: T43A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
AA Change: T43A

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153143

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,683,505 (GRCm39)	Q929R	probably benign	Het
Aplf	A	T	6: 87,635,946 (GRCm39)	D122E	probably damaging	Het
Atp2a3	T	A	11: 72,878,810 (GRCm39)	L874Q	probably damaging	Het
Atp2b2	A	T	6: 113,770,691 (GRCm39)	L406Q	probably damaging	Het
Atp6v1b1	A	G	6: 83,733,891 (GRCm39)	D374G	probably benign	Het
Bcas1	T	A	2: 170,220,708 (GRCm39)	R239*	probably null	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Ccdc157	G	A	11: 4,094,035 (GRCm39)	A532V	probably benign	Het
Cd300lb	G	A	11: 114,819,303 (GRCm39)	R109*	probably null	Het
Clca4c-ps	T	C	3: 144,585,516 (GRCm39)		noncoding transcript	Het
Ctnna3	G	T	10: 64,781,777 (GRCm39)	V747F	probably benign	Het
Cyp2c29	A	T	19: 39,318,866 (GRCm39)	I488F	probably benign	Het
Cyp3a25	T	C	5: 145,935,362 (GRCm39)	M85V	possibly damaging	Het
Dnah7b	T	A	1: 46,266,090 (GRCm39)	Y2220N	probably damaging	Het
Espl1	A	G	15: 102,224,099 (GRCm39)	I1217V	probably benign	Het
Exoc2	A	G	13: 30,999,304 (GRCm39)	S918P	probably benign	Het
Fer1l4	T	A	2: 155,873,172 (GRCm39)	I1303F	possibly damaging	Het
Gm28047	A	T	15: 102,455,662 (GRCm39)	I234K	probably damaging	Het
Gpcpd1	A	G	2: 132,410,630 (GRCm39)	V19A	probably damaging	Het
Gprin3	A	G	6: 59,331,458 (GRCm39)	V283A	probably benign	Het
Grb14	A	G	2: 64,783,960 (GRCm39)	Y56H	probably damaging	Het
Greb1	A	G	12: 16,767,209 (GRCm39)	F331S	probably benign	Het
Iigp1c	T	G	18: 60,379,470 (GRCm39)	V335G	probably damaging	Het
Jkamp	A	G	12: 72,141,591 (GRCm39)	Y198C	probably damaging	Het
Klk1b11	G	T	7: 43,649,165 (GRCm39)	C234F	probably damaging	Het
Nacad	T	C	11: 6,552,649 (GRCm39)	T181A	probably benign	Het
Or1e23	A	G	11: 73,407,375 (GRCm39)	S217P	probably benign	Het
Or2m13	A	T	16: 19,225,914 (GRCm39)	L285Q	possibly damaging	Het
Or5ak4	T	A	2: 85,161,465 (GRCm39)	Y259F	probably damaging	Het
Pitpnm3	A	T	11: 71,962,274 (GRCm39)	I227N	probably benign	Het
Pnn	A	G	12: 59,116,995 (GRCm39)	E189G	probably damaging	Het
Pnpla2	C	A	7: 141,038,122 (GRCm39)	P197T	probably damaging	Het
Pnpla6	A	G	8: 3,567,327 (GRCm39)	T62A	probably benign	Het
Ptprq	G	T	10: 107,482,419 (GRCm39)	D1051E	probably damaging	Het
Rag2	C	T	2: 101,460,376 (GRCm39)	R229C	probably damaging	Het
Serinc1	A	T	10: 57,399,204 (GRCm39)	I196N	probably damaging	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc26a9	T	C	1: 131,680,583 (GRCm39)	C43R	probably damaging	Het
Slc2a3	A	T	6: 122,716,931 (GRCm39)	Y44N	probably benign	Het
Smad5	T	G	13: 56,883,603 (GRCm39)		probably benign	Het
Sugct	C	A	13: 17,819,450 (GRCm39)	V132F	possibly damaging	Het
Supt6	T	C	11: 78,117,030 (GRCm39)	E568G	possibly damaging	Het
Timp4	A	T	6: 115,224,240 (GRCm39)	V143E	possibly damaging	Het
Tns1	T	C	1: 74,031,290 (GRCm39)	D275G	possibly damaging	Het
Trib1	A	G	15: 59,523,449 (GRCm39)	E161G	probably damaging	Het
Trpc7	A	T	13: 57,008,743 (GRCm39)	L308Q	probably damaging	Het
Ush1c	A	T	7: 45,858,722 (GRCm39)	V522E	possibly damaging	Het
Usp28	T	C	9: 48,935,265 (GRCm39)	V449A	probably damaging	Het
Vmn1r82	A	G	7: 12,039,273 (GRCm39)	Y64C	probably damaging	Het
Wwox	G	A	8: 115,438,805 (GRCm39)	M290I	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
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