Mutagenetix > Incidental Mutation

Incidental Mutation 'R6559:Fbf1'

521963

Institutional Source

Beutler Lab

Gene Symbol

Fbf1

Ensembl Gene

ENSMUSG00000020776

Gene Name

Fas binding factor 1

Synonyms

1110033G01Rik

MMRRC Submission

044683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116033111-116058992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116046272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 193 (T193M)

Ref Sequence

ENSEMBL: ENSMUSP00000114558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103031] [ENSMUST00000106435] [ENSMUST00000124828]

AlphaFold

A2A870

Predicted Effect

probably benign
Transcript: ENSMUST00000103031
AA Change: T193M

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: T193M

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
low complexity region	151	164	N/A	INTRINSIC
low complexity region	201	216	N/A	INTRINSIC
coiled coil region	617	745	N/A	INTRINSIC
SCOP:d1sig__	808	975	9e-3	SMART
low complexity region	976	1005	N/A	INTRINSIC
low complexity region	1031	1068	N/A	INTRINSIC
low complexity region	1110	1130	N/A	INTRINSIC
low complexity region	1131	1146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106435
AA Change: T193M

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: T193M

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
low complexity region	151	164	N/A	INTRINSIC
low complexity region	201	216	N/A	INTRINSIC
coiled coil region	617	745	N/A	INTRINSIC
SCOP:d1sig__	808	975	9e-3	SMART
low complexity region	976	1005	N/A	INTRINSIC
low complexity region	1031	1068	N/A	INTRINSIC
low complexity region	1110	1130	N/A	INTRINSIC
low complexity region	1131	1146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124828
AA Change: T193M

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114558
Gene: ENSMUSG00000020776
AA Change: T193M

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
low complexity region	151	164	N/A	INTRINSIC
low complexity region	201	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150703

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	C	T	4: 109,363,002 (GRCm39)	V106I	possibly damaging	Het
Actn4	T	C	7: 28,606,461 (GRCm39)	K284R	possibly damaging	Het
Adam20	G	C	8: 41,249,329 (GRCm39)	E480Q	probably benign	Het
Cdkl3	A	G	11: 51,916,696 (GRCm39)	T275A	probably benign	Het
Dync2h1	A	G	9: 7,139,501 (GRCm39)	I1378T	possibly damaging	Het
Fam186a	A	G	15: 99,842,356 (GRCm39)	I1296T	possibly damaging	Het
Fcrl1	A	G	3: 87,298,560 (GRCm39)	I352V	probably benign	Het
Ifit3	T	C	19: 34,564,514 (GRCm39)	F20S	probably damaging	Het
Klhl3	G	A	13: 58,164,290 (GRCm39)	R431W	probably damaging	Het
Lipi	A	G	16: 75,337,982 (GRCm39)	V464A	probably benign	Het
Lrp6	T	C	6: 134,490,217 (GRCm39)	I120M	probably damaging	Het
Mst1r	A	G	9: 107,785,470 (GRCm39)	N376S	possibly damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Ncoa2	G	A	1: 13,220,841 (GRCm39)		probably null	Het
Odad2	T	C	18: 7,223,664 (GRCm39)	T460A	probably damaging	Het
Or6c215	A	T	10: 129,637,533 (GRCm39)	I287N	probably damaging	Het
Or8c10	A	G	9: 38,279,052 (GRCm39)	Y60C	probably damaging	Het
Teddm1a	A	T	1: 153,768,111 (GRCm39)	I192F	probably benign	Het
Tnfaip3	A	G	10: 18,882,996 (GRCm39)	S190P	probably damaging	Het
Ttc3	T	C	16: 94,223,208 (GRCm39)		probably null	Het
Zfp112	C	T	7: 23,825,888 (GRCm39)	Q619*	probably null	Het
Zscan4-ps3	A	G	7: 11,344,339 (GRCm39)	E99G	probably damaging	Het

Other mutations in Fbf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Fbf1	APN	11	116,041,907 (GRCm39)	missense	probably benign	0.00
IGL01420:Fbf1	APN	11	116,036,822 (GRCm39)	missense	probably benign	0.07
IGL01971:Fbf1	APN	11	116,034,208 (GRCm39)	unclassified	probably benign
IGL01995:Fbf1	APN	11	116,041,846 (GRCm39)	missense	probably null	0.00
IGL02639:Fbf1	APN	11	116,043,426 (GRCm39)	missense	probably benign	0.14
IGL02884:Fbf1	APN	11	116,037,339 (GRCm39)	missense	probably damaging	1.00
IGL03001:Fbf1	APN	11	116,056,712 (GRCm39)	start gained	probably benign
IGL03309:Fbf1	APN	11	116,038,637 (GRCm39)	missense	probably damaging	1.00
R0098:Fbf1	UTSW	11	116,038,945 (GRCm39)	critical splice donor site	probably null
R0098:Fbf1	UTSW	11	116,038,945 (GRCm39)	critical splice donor site	probably null
R0234:Fbf1	UTSW	11	116,045,860 (GRCm39)	missense	probably damaging	1.00
R0234:Fbf1	UTSW	11	116,045,860 (GRCm39)	missense	probably damaging	1.00
R0257:Fbf1	UTSW	11	116,045,917 (GRCm39)	missense	probably benign	0.05
R0394:Fbf1	UTSW	11	116,043,288 (GRCm39)	unclassified	probably benign
R0637:Fbf1	UTSW	11	116,050,880 (GRCm39)	unclassified	probably benign
R1512:Fbf1	UTSW	11	116,038,753 (GRCm39)	missense	probably damaging	1.00
R1679:Fbf1	UTSW	11	116,041,843 (GRCm39)	critical splice donor site	probably null
R1726:Fbf1	UTSW	11	116,036,280 (GRCm39)	missense	probably benign
R1909:Fbf1	UTSW	11	116,036,818 (GRCm39)	missense	possibly damaging	0.79
R1970:Fbf1	UTSW	11	116,042,317 (GRCm39)	missense	possibly damaging	0.93
R2507:Fbf1	UTSW	11	116,046,252 (GRCm39)	missense	probably benign
R2847:Fbf1	UTSW	11	116,048,514 (GRCm39)	critical splice donor site	probably null
R2849:Fbf1	UTSW	11	116,048,514 (GRCm39)	critical splice donor site	probably null
R2867:Fbf1	UTSW	11	116,052,274 (GRCm39)	unclassified	probably benign
R3161:Fbf1	UTSW	11	116,039,046 (GRCm39)	missense	probably damaging	1.00
R3711:Fbf1	UTSW	11	116,054,179 (GRCm39)	missense	probably damaging	1.00
R3711:Fbf1	UTSW	11	116,052,299 (GRCm39)	missense	possibly damaging	0.66
R3752:Fbf1	UTSW	11	116,038,622 (GRCm39)	missense	probably benign	0.21
R4293:Fbf1	UTSW	11	116,039,720 (GRCm39)	missense	probably damaging	1.00
R4344:Fbf1	UTSW	11	116,038,568 (GRCm39)	missense	probably benign
R4345:Fbf1	UTSW	11	116,038,568 (GRCm39)	missense	probably benign
R4604:Fbf1	UTSW	11	116,049,748 (GRCm39)	missense	possibly damaging	0.81
R4828:Fbf1	UTSW	11	116,039,777 (GRCm39)	missense	probably benign	0.00
R4936:Fbf1	UTSW	11	116,043,378 (GRCm39)	missense	probably benign	0.05
R5561:Fbf1	UTSW	11	116,048,646 (GRCm39)	missense	probably damaging	1.00
R6392:Fbf1	UTSW	11	116,043,775 (GRCm39)	critical splice acceptor site	probably null
R6993:Fbf1	UTSW	11	116,043,610 (GRCm39)	missense	probably benign
R7207:Fbf1	UTSW	11	116,040,300 (GRCm39)	missense	probably benign	0.01
R7544:Fbf1	UTSW	11	116,056,659 (GRCm39)	missense	probably benign	0.01
R7988:Fbf1	UTSW	11	116,043,594 (GRCm39)	missense	probably benign	0.00
R8230:Fbf1	UTSW	11	116,037,565 (GRCm39)	missense	probably benign
R8262:Fbf1	UTSW	11	116,044,845 (GRCm39)	missense	probably benign	0.19
R8508:Fbf1	UTSW	11	116,056,707 (GRCm39)	start codon destroyed	probably null	0.00
X0020:Fbf1	UTSW	11	116,041,619 (GRCm39)	missense	possibly damaging	0.78
X0060:Fbf1	UTSW	11	116,039,682 (GRCm39)	nonsense	probably null
X0062:Fbf1	UTSW	11	116,040,252 (GRCm39)	missense	probably benign	0.09

Predicted Primers

Posted On

2018-06-06