Mutagenetix > Incidental Mutation

Incidental Mutation 'R2847:Fbf1'

251749

Institutional Source

Beutler Lab

Gene Symbol

Fbf1

Ensembl Gene

ENSMUSG00000020776

Gene Name

Fas binding factor 1

Synonyms

1110033G01Rik

MMRRC Submission

040440-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116033111-116058992 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 116048514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114558 (fasta)

Gene Model

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

AlphaFold

A2A870

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000124828

SMART Domains

Protein: ENSMUSP00000114558
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

Predicted Effect

probably null
Transcript: ENSMUST00000124828

SMART Domains

Protein: ENSMUSP00000114558
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

Predicted Effect

probably null
Transcript: ENSMUST00000124828

SMART Domains

Protein: ENSMUSP00000114558
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

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930510E17Rik	T	C	9: 53,176,089 (GRCm39)		noncoding transcript	Het
Abca13	T	C	11: 9,244,584 (GRCm39)	V2149A	possibly damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Bub3	C	T	7: 131,172,613 (GRCm39)	T326M	possibly damaging	Het
Cd151	T	C	7: 141,049,463 (GRCm39)	Y57H	probably damaging	Het
Cib4	T	C	5: 30,645,932 (GRCm39)	N112S	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Defb39	C	T	8: 19,102,909 (GRCm39)	R62H	possibly damaging	Het
Dennd2b	T	C	7: 109,124,544 (GRCm39)	Q1099R	probably damaging	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Efcab12	A	G	6: 115,788,072 (GRCm39)	I630T	probably damaging	Het
Erc2	T	C	14: 27,762,445 (GRCm39)	V736A	probably damaging	Het
Fndc9	C	T	11: 46,128,868 (GRCm39)	A129V	probably damaging	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Gba2	T	C	4: 43,568,000 (GRCm39)		probably null	Het
Gna12	T	A	5: 140,771,348 (GRCm39)	D61V	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Grin2b	C	A	6: 135,717,951 (GRCm39)	V714L	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Itgb6	T	C	2: 60,430,879 (GRCm39)	T772A	probably damaging	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Mme	T	A	3: 63,252,620 (GRCm39)	N421K	possibly damaging	Het
Mmp1b	C	T	9: 7,370,763 (GRCm39)	V331I	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nav1	G	C	1: 135,378,382 (GRCm39)		probably null	Het
Nln	A	G	13: 104,161,533 (GRCm39)	M679T	probably damaging	Het
Or1n1b	A	G	2: 36,780,536 (GRCm39)	L108P	probably damaging	Het
Or8b53	C	T	9: 38,667,332 (GRCm39)	T116I	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pax7	T	C	4: 139,506,954 (GRCm39)	D361G	possibly damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Plekhh2	G	T	17: 84,905,394 (GRCm39)	R1096L	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Robo4	C	T	9: 37,315,772 (GRCm39)	R342*	probably null	Het
Sec23ip	G	A	7: 128,355,797 (GRCm39)	V307I	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Tas1r3	T	A	4: 155,944,659 (GRCm39)	Q854L	probably benign	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trpm4	A	G	7: 44,960,022 (GRCm39)	F771S	probably damaging	Het
Tstd3	A	T	4: 21,759,375 (GRCm39)	F132L	possibly damaging	Het
Ulk2	T	C	11: 61,715,555 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,180,404 (GRCm39)	Y3080H	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vmn2r60	A	T	7: 41,785,857 (GRCm39)	H220L	probably benign	Het
Vps13a	A	G	19: 16,680,963 (GRCm39)	S1078P	probably damaging	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zdhhc22	T	A	12: 87,035,336 (GRCm39)	T39S	probably benign	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTGATCCTCCATCCTAGGC -3'
(R):5'- TTAGGGACTTCAACCACACAG -3'

Sequencing Primer
(F):5'- TCCTGCCACGATGATAATGG -3'
(R):5'- CACCCTCCCAGACACCGG -3'

Posted On

2014-12-04