Mutagenetix > Incidental Mutation

Incidental Mutation 'R1238:Tcfl5'

152489

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

039305-MU

Accession Numbers

Essential gene?

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

Stock #

R1238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180263749-180284501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180264440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 472 (V472A)

Ref Sequence

ENSEMBL: ENSMUSP00000040611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037877] [ENSMUST00000103059] [ENSMUST00000132527]

AlphaFold

Q32NY8

Predicted Effect

probably benign
Transcript: ENSMUST00000037877
AA Change: V472A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040611
Gene: ENSMUSG00000038932
AA Change: V472A

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

probably benign
Transcript: ENSMUST00000103059

SMART Domains

Protein: ENSMUSP00000099348
Gene: ENSMUSG00000027570

Domain	Start	End	E-Value	Type
Pfam:Collagen	21	80	7.7e-12	PFAM
Pfam:Collagen	58	114	4.2e-9	PFAM
low complexity region	126	162	N/A	INTRINSIC
Pfam:Collagen	174	236	4.1e-12	PFAM
Pfam:Collagen	213	292	8e-9	PFAM
internal_repeat_1	315	366	1.58e-12	PROSPERO
internal_repeat_2	360	382	2.94e-6	PROSPERO
low complexity region	384	396	N/A	INTRINSIC
Pfam:Collagen	456	518	1.8e-11	PFAM
Pfam:Collagen	545	606	3.8e-11	PFAM
low complexity region	635	656	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132527

SMART Domains

Protein: ENSMUSP00000128718
Gene: ENSMUSG00000027570

Domain	Start	End	E-Value	Type
Pfam:Collagen	21	80	7.9e-12	PFAM
Pfam:Collagen	58	114	4.3e-9	PFAM
Pfam:Collagen	109	166	4.5e-8	PFAM
Pfam:Collagen	174	236	4.2e-12	PFAM
Pfam:Collagen	213	292	8.2e-9	PFAM
internal_repeat_1	315	366	1.58e-12	PROSPERO
internal_repeat_2	360	382	2.94e-6	PROSPERO
low complexity region	384	396	N/A	INTRINSIC
Pfam:Collagen	402	474	8.2e-8	PFAM
Pfam:Collagen	456	518	1.8e-11	PFAM
Pfam:Collagen	545	606	3.9e-11	PFAM
Pfam:Collagen	603	662	2.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165879

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	A	14: 118,835,051 (GRCm39)		probably benign	Het
BC051665	T	A	13: 60,932,451 (GRCm39)	N78I	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cep290	A	C	10: 100,353,725 (GRCm39)	Q819H	probably damaging	Het
Cep70	T	C	9: 99,136,318 (GRCm39)	I7T	probably benign	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Cit	T	A	5: 115,989,280 (GRCm39)	F56I	probably benign	Het
Colec10	T	C	15: 54,325,835 (GRCm39)	F222L	possibly damaging	Het
Crocc	G	A	4: 140,762,675 (GRCm39)	A769V	probably benign	Het
Ctcf	T	C	8: 106,397,909 (GRCm39)		probably benign	Het
Ect2l	T	C	10: 18,018,852 (GRCm39)	R607G	possibly damaging	Het
Efcab6	T	G	15: 83,817,338 (GRCm39)	E745A	probably benign	Het
Eif1ad	T	G	19: 5,420,111 (GRCm39)	*171G	probably null	Het
Gvin-ps6	A	G	7: 106,022,264 (GRCm39)	V246A	probably damaging	Het
H2-D1	A	G	17: 35,482,908 (GRCm39)	D146G	probably damaging	Het
Iqub	C	T	6: 24,505,884 (GRCm39)	R8H	probably benign	Het
Itih4	A	T	14: 30,609,906 (GRCm39)	I79F	probably damaging	Het
Kdm5d	G	A	Y: 941,282 (GRCm39)	R1161H	probably damaging	Het
Map4	T	C	9: 109,897,648 (GRCm39)	S675P	probably benign	Het
Mfsd4b3-ps	A	T	10: 39,823,222 (GRCm39)	V346E	probably damaging	Het
Or1j21	A	T	2: 36,683,601 (GRCm39)	M118L	probably damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or7d11	T	A	9: 19,966,757 (GRCm39)	M1L	probably benign	Het
P2rx1	A	C	11: 72,903,784 (GRCm39)	K282T	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Ptprj	A	T	2: 90,274,758 (GRCm39)		probably null	Het
Pwp1	A	G	10: 85,721,726 (GRCm39)	I411V	probably benign	Het
Rnaset2b	T	C	17: 7,256,169 (GRCm39)	S12P	probably damaging	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Slc25a21	T	A	12: 56,785,272 (GRCm39)	I202F	probably benign	Het
Ttc12	A	T	9: 49,369,487 (GRCm39)		probably benign	Het
Ugt2b1	T	G	5: 87,073,988 (GRCm39)	I124L	probably benign	Het
Usp14	A	T	18: 9,997,763 (GRCm39)	N357K	probably benign	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
R5748:Tcfl5	UTSW	2	180,284,050 (GRCm39)	synonymous	silent
R6679:Tcfl5	UTSW	2	180,277,055 (GRCm39)	missense	probably damaging	1.00
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'- TCGAGAGGACTCAGAGCTGAACTC -3'
(R):5'- TGAAGAGATAGCCACCAACCTGGAC -3'

Sequencing Primer
(F):5'- CAGAGCTGAACTCCGGGATG -3'
(R):5'- CATGTCTGTGATACCTTAGAAGACTG -3'

Posted On

2014-01-29