Mutagenetix > Incidental Mutation

Incidental Mutation 'R6679:Tcfl5'

527377

Institutional Source

Beutler Lab

Gene Symbol

Tcfl5

Ensembl Gene

ENSMUSG00000038932

Gene Name

transcription factor-like 5 (basic helix-loop-helix)

Synonyms

FIG beta, Figlb

MMRRC Submission

044798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R6679 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180263749-180284501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180277055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 447 (L447I)

Ref Sequence

ENSEMBL: ENSMUSP00000040611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037877] [ENSMUST00000161425]

AlphaFold

Q32NY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037877
AA Change: L447I

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

SMART Domains

Protein: ENSMUSP00000040611
Gene: ENSMUSG00000038932
AA Change: L447I

Domain	Start	End	E-Value	Type
low complexity region	3	36	N/A	INTRINSIC
low complexity region	76	110	N/A	INTRINSIC
low complexity region	152	167	N/A	INTRINSIC
low complexity region	185	198	N/A	INTRINSIC
low complexity region	355	373	N/A	INTRINSIC
HLH	395	445	2.13e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131881

Predicted Effect

probably benign
Transcript: ENSMUST00000161425

SMART Domains

Protein: ENSMUSP00000125945
Gene: ENSMUSG00000038932

Domain	Start	End	E-Value	Type
low complexity region	3	36	N/A	INTRINSIC
low complexity region	76	110	N/A	INTRINSIC
low complexity region	152	167	N/A	INTRINSIC
low complexity region	185	198	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,750 (GRCm39)	V299E	probably damaging	Het
Adgrb3	T	C	1: 25,170,377 (GRCm39)	I767V	probably benign	Het
Ahnak2	G	A	12: 112,739,410 (GRCm39)	T748I	probably damaging	Het
Aoc3	T	A	11: 101,222,279 (GRCm39)	L129M	probably damaging	Het
Arhgef7	T	A	8: 11,874,667 (GRCm39)	M540K	possibly damaging	Het
Bod1l	T	A	5: 41,974,009 (GRCm39)	K2435M	probably damaging	Het
Col11a1	A	G	3: 113,946,368 (GRCm39)		probably null	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Creb5	G	T	6: 53,662,454 (GRCm39)	M250I	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dock10	A	G	1: 80,544,514 (GRCm39)	I557T	probably benign	Het
Efcab2	G	A	1: 178,264,969 (GRCm39)	A12T	probably benign	Het
Ehd1	A	G	19: 6,344,474 (GRCm39)	N245D	probably benign	Het
Erich3	T	A	3: 154,468,066 (GRCm39)	D839E	possibly damaging	Het
Fam13b	T	C	18: 34,620,075 (GRCm39)	T270A	possibly damaging	Het
Fat2	A	T	11: 55,200,131 (GRCm39)	L981Q	probably damaging	Het
Fgfrl1	G	A	5: 108,852,838 (GRCm39)	W89*	probably null	Het
Fgfrl1	G	T	5: 108,852,839 (GRCm39)	W89C	probably damaging	Het
Gm10770	G	A	2: 150,021,569 (GRCm39)	P11S	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,077,986 (GRCm39)	V190A	possibly damaging	Het
Htr1a	A	G	13: 105,581,936 (GRCm39)	N392S	probably damaging	Het
Ift43	A	G	12: 86,185,592 (GRCm39)	M59V	probably benign	Het
Jakmip2	T	C	18: 43,699,014 (GRCm39)	T482A	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nme8	A	T	13: 19,875,140 (GRCm39)		probably null	Het
Or5h26	A	G	16: 58,988,209 (GRCm39)	I99T	probably benign	Het
Peg10	CCAACAACAACAACAACAACAACA	CCAACAACAACAACAACAACA	6: 4,754,276 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,058,015 (GRCm39)	F3996S	probably damaging	Het
Ppfia4	A	T	1: 134,237,417 (GRCm39)	Y961N	probably damaging	Het
Rag1	G	A	2: 101,474,629 (GRCm39)	P171L	probably damaging	Het
Rbm24	A	T	13: 46,572,468 (GRCm39)		probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rxfp3	T	C	15: 11,035,956 (GRCm39)	Y472C	probably damaging	Het
Sash1	T	A	10: 8,615,949 (GRCm39)	I638F	probably damaging	Het
Sh3glb2	G	A	2: 30,240,631 (GRCm39)	R145W	probably damaging	Het
Ston2	G	T	12: 91,614,870 (GRCm39)	P513T	probably damaging	Het
Sycp2	A	G	2: 178,022,721 (GRCm39)	M470T	probably damaging	Het
Syt10	C	A	15: 89,698,574 (GRCm39)	D257Y	probably damaging	Het
Tlr11	T	C	14: 50,600,311 (GRCm39)	W766R	probably benign	Het
Usp33	T	A	3: 152,074,124 (GRCm39)	D19E	possibly damaging	Het
Vmn1r123	T	A	7: 20,896,868 (GRCm39)	Y253*	probably null	Het
Wdr55	G	A	18: 36,896,177 (GRCm39)	G289D	probably damaging	Het
Zfp523	C	T	17: 28,421,194 (GRCm39)	T235M	probably damaging	Het

Other mutations in Tcfl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02799:Tcfl5	UTSW	2	180,280,419 (GRCm39)	missense	possibly damaging	0.94
R1238:Tcfl5	UTSW	2	180,264,440 (GRCm39)	missense	probably benign	0.29
R5748:Tcfl5	UTSW	2	180,284,050 (GRCm39)	synonymous	silent
R6694:Tcfl5	UTSW	2	180,264,447 (GRCm39)	missense	probably damaging	1.00
R7293:Tcfl5	UTSW	2	180,283,958 (GRCm39)	missense	probably benign	0.08
R8284:Tcfl5	UTSW	2	180,280,330 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGAGAACTCCCTTCATACTGGAC -3'
(R):5'- AATGATGAACCCTGTTGCTCCTG -3'

Sequencing Primer
(F):5'- ATACTGGACTTTACATCTGACCTCAG -3'
(R):5'- TGCACGTCACCACCTGC -3'

Posted On

2018-07-23