Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01971:Fbf1'

182563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbf1

Ensembl Gene

ENSMUSG00000020776

Gene Name

Fas binding factor 1

Synonyms

1110033G01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01971

Quality Score

Status

Chromosome

Chromosomal Location

116033111-116058992 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 116034208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103031] [ENSMUST00000106435] [ENSMUST00000106439]

AlphaFold

A2A870

Predicted Effect

probably benign
Transcript: ENSMUST00000103031

SMART Domains

Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776

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

SMART Domains

Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776

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: ENSMUST00000106439

SMART Domains

Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775

Domain	Start	End	E-Value	Type
low complexity region	55	67	N/A	INTRINSIC
Pfam:PBP	183	313	3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142550

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	C	T	7: 29,273,987 (GRCm39)		noncoding transcript	Het
Ankmy2	A	T	12: 36,243,792 (GRCm39)	K336*	probably null	Het
Areg	A	G	5: 91,288,870 (GRCm39)	T59A	probably benign	Het
Atp8b4	T	C	2: 126,304,536 (GRCm39)	I66V	probably benign	Het
Atrnl1	C	T	19: 57,741,715 (GRCm39)	T1158M	probably damaging	Het
Ckmt1	T	A	2: 121,194,064 (GRCm39)	I409N	probably benign	Het
Cnnm2	A	G	19: 46,860,115 (GRCm39)	T730A	probably benign	Het
Fan1	T	C	7: 64,003,459 (GRCm39)	R788G	probably damaging	Het
Galnt2l	G	A	8: 125,070,081 (GRCm39)	V499M	probably benign	Het
Heca	A	G	10: 17,791,162 (GRCm39)	F298S	probably damaging	Het
Klhl6	A	T	16: 19,768,276 (GRCm39)	V423E	probably damaging	Het
Notch3	T	C	17: 32,343,321 (GRCm39)	N1951D	probably damaging	Het
Osbp	T	C	19: 11,967,999 (GRCm39)	V636A	probably benign	Het
Szt2	T	C	4: 118,244,152 (GRCm39)	T1318A	probably benign	Het
Tnxb	G	A	17: 34,891,271 (GRCm39)	G538D	probably damaging	Het
Tpbpa	A	T	13: 61,088,047 (GRCm39)	F46L	possibly damaging	Het
Ttn	A	G	2: 76,554,123 (GRCm39)	V30860A	probably damaging	Het
Usf3	A	G	16: 44,037,809 (GRCm39)		probably null	Het
Utp23	C	A	15: 51,745,671 (GRCm39)	A57E	probably benign	Het
Vmn2r13	T	C	5: 109,321,981 (GRCm39)	M239V	probably benign	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
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
R6559:Fbf1	UTSW	11	116,046,272 (GRCm39)	missense	probably benign	0.15
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

Posted On

2014-05-07