Mutagenetix > Incidental Mutation

Incidental Mutation 'R5561:Fbf1'

436615

Institutional Source

Beutler Lab

Gene Symbol

Fbf1

Ensembl Gene

ENSMUSG00000020776

Gene Name

Fas (TNFRSF6) binding factor 1

Synonyms

1110033G01Rik

MMRRC Submission

043118-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5561 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

116142285-116168166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116157820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 105 (D105G)

Ref Sequence

ENSEMBL: ENSMUSP00000102043 (fasta)

Gene Model

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

AlphaFold

A2A870

Predicted Effect

probably damaging
Transcript: ENSMUST00000103031
AA Change: D105G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: D105G

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 damaging
Transcript: ENSMUST00000106435
AA Change: D105G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: D105G

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

possibly damaging
Transcript: ENSMUST00000124828
AA Change: D105G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114558
Gene: ENSMUSG00000020776
AA Change: D105G

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	C	A	14: 95,882,371	A188E	probably benign	Het
A630095N17Rik	T	C	1: 75,220,537		probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgrv1	A	G	13: 81,476,564	L3762P	probably damaging	Het
Amn1	G	A	6: 149,185,024	R4W	probably damaging	Het
Atxn1	G	T	13: 45,566,871	T516N	possibly damaging	Het
Atxn7	A	T	14: 14,089,260	T259S	probably benign	Het
Bsn	C	G	9: 108,105,511	R3681P	unknown	Het
C8b	T	C	4: 104,784,448	Y194H	possibly damaging	Het
Ccdc110	T	G	8: 45,940,609	S119R	probably benign	Het
Ceacam20	A	T	7: 19,970,393	Q123L	possibly damaging	Het
Clip3	A	G	7: 30,298,849	D240G	possibly damaging	Het
Col24a1	T	C	3: 145,298,827	F22S	probably benign	Het
Dlg5	T	A	14: 24,177,792	M354L	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dnase1l3	A	G	14: 7,967,847	V282A	probably damaging	Het
Dnhd1	G	A	7: 105,714,821	G4127S	probably damaging	Het
Eed	G	A	7: 89,967,793	R165W	probably damaging	Het
Ephb2	C	T	4: 136,661,406	V627M	probably damaging	Het
Fancc	T	C	13: 63,317,387	E502G	possibly damaging	Het
Fer	T	A	17: 64,037,585	Y246*	probably null	Het
Fer1l6	A	G	15: 58,660,825	K1792E	probably damaging	Het
Foxi2	A	G	7: 135,411,647	D202G	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
H2-DMb2	G	T	17: 34,145,471		probably null	Het
Helq	G	T	5: 100,787,050	D491E	probably benign	Het
Hgsnat	A	G	8: 25,946,334	V564A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hs3st5	T	A	10: 36,833,429	V320D	probably damaging	Het
Ifit1bl1	A	T	19: 34,593,797	L420*	probably null	Het
Ift80	T	G	3: 68,967,863	N178T	probably benign	Het
Ing4	C	T	6: 125,047,060	T89I	possibly damaging	Het
Lcp1	G	A	14: 75,212,508	D386N	probably benign	Het
Mdc1	T	A	17: 35,848,546	I606K	probably benign	Het
Mllt10	T	A	2: 18,109,845	M120K	probably damaging	Het
Morc1	G	T	16: 48,449,348	L89F	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Nav3	C	A	10: 109,716,552	D1810Y	probably damaging	Het
Obscn	G	A	11: 59,036,093	T5532M	probably damaging	Het
Olfr527	C	T	7: 140,336,152	Q97*	probably null	Het
Olfr716	A	G	7: 107,148,090	N258S	probably benign	Het
Opn3	C	T	1: 175,665,587	R137H	probably damaging	Het
Palld	G	A	8: 61,516,585	A993V	probably damaging	Het
Ppp1r12c	A	T	7: 4,486,356		probably null	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Rapgef2	A	T	3: 79,088,643		probably null	Het
Ring1	T	C	17: 34,021,458	E382G	possibly damaging	Het
Rpl22l1	T	A	3: 28,806,820	N61K	probably benign	Het
Rpp14	A	G	14: 8,090,558		probably null	Het
Rusc2	C	T	4: 43,415,932	Q413*	probably null	Het
Slco3a1	A	G	7: 74,318,499	I491T	possibly damaging	Het
Smtnl1	C	T	2: 84,818,395	V172I	probably benign	Het
Spats2l	T	A	1: 57,900,621		probably null	Het
Spire1	T	A	18: 67,506,646	N266Y	probably damaging	Het
Stox2	T	C	8: 47,193,006	H473R	probably damaging	Het
Syne2	C	T	12: 76,094,458	R121*	probably null	Het
Synrg	G	A	11: 84,002,240		probably null	Het
Tm9sf1	C	T	14: 55,638,097	V397M	probably damaging	Het
Trabd	T	C	15: 89,081,984	M48T	probably benign	Het
Ttn	T	A	2: 76,707,233	I26457F	possibly damaging	Het
Uggt2	C	T	14: 119,041,527	R856Q	probably benign	Het
Ugt1a5	T	A	1: 88,166,317	M89K	probably benign	Het
Vmn2r53	A	T	7: 12,601,420	S104R	probably damaging	Het
Zdhhc12	A	T	2: 30,092,484	L53Q	probably null	Het

Other mutations in Fbf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Fbf1	APN	11	116151081	missense	probably benign	0.00
IGL01420:Fbf1	APN	11	116145996	missense	probably benign	0.07
IGL01971:Fbf1	APN	11	116143382	unclassified	probably benign
IGL01995:Fbf1	APN	11	116151020	missense	probably null	0.00
IGL02639:Fbf1	APN	11	116152600	missense	probably benign	0.14
IGL02884:Fbf1	APN	11	116146513	missense	probably damaging	1.00
IGL03001:Fbf1	APN	11	116165886	start gained	probably benign
IGL03309:Fbf1	APN	11	116147811	missense	probably damaging	1.00
R0098:Fbf1	UTSW	11	116148119	critical splice donor site	probably null
R0098:Fbf1	UTSW	11	116148119	critical splice donor site	probably null
R0234:Fbf1	UTSW	11	116155034	missense	probably damaging	1.00
R0234:Fbf1	UTSW	11	116155034	missense	probably damaging	1.00
R0257:Fbf1	UTSW	11	116155091	missense	probably benign	0.05
R0394:Fbf1	UTSW	11	116152462	unclassified	probably benign
R0637:Fbf1	UTSW	11	116160054	unclassified	probably benign
R1512:Fbf1	UTSW	11	116147927	missense	probably damaging	1.00
R1679:Fbf1	UTSW	11	116151017	critical splice donor site	probably null
R1726:Fbf1	UTSW	11	116145454	missense	probably benign
R1909:Fbf1	UTSW	11	116145992	missense	possibly damaging	0.79
R1970:Fbf1	UTSW	11	116151491	missense	possibly damaging	0.93
R2507:Fbf1	UTSW	11	116155426	missense	probably benign
R2847:Fbf1	UTSW	11	116157688	critical splice donor site	probably null
R2849:Fbf1	UTSW	11	116157688	critical splice donor site	probably null
R2867:Fbf1	UTSW	11	116161448	unclassified	probably benign
R3161:Fbf1	UTSW	11	116148220	missense	probably damaging	1.00
R3711:Fbf1	UTSW	11	116161473	missense	possibly damaging	0.66
R3711:Fbf1	UTSW	11	116163353	missense	probably damaging	1.00
R3752:Fbf1	UTSW	11	116147796	missense	probably benign	0.21
R4293:Fbf1	UTSW	11	116148894	missense	probably damaging	1.00
R4344:Fbf1	UTSW	11	116147742	missense	probably benign
R4345:Fbf1	UTSW	11	116147742	missense	probably benign
R4604:Fbf1	UTSW	11	116158922	missense	possibly damaging	0.81
R4828:Fbf1	UTSW	11	116148951	missense	probably benign	0.00
R4936:Fbf1	UTSW	11	116152552	missense	probably benign	0.05
R6392:Fbf1	UTSW	11	116152949	critical splice acceptor site	probably null
R6559:Fbf1	UTSW	11	116155446	missense	probably benign	0.15
R6993:Fbf1	UTSW	11	116152784	missense	probably benign
R7207:Fbf1	UTSW	11	116149474	missense	probably benign	0.01
R7544:Fbf1	UTSW	11	116165833	missense	probably benign	0.01
R7988:Fbf1	UTSW	11	116152768	missense	probably benign	0.00
R8230:Fbf1	UTSW	11	116146739	missense	probably benign
R8262:Fbf1	UTSW	11	116154019	missense	probably benign	0.19
R8508:Fbf1	UTSW	11	116165881	start codon destroyed	probably null	0.00
X0020:Fbf1	UTSW	11	116150793	missense	possibly damaging	0.78
X0060:Fbf1	UTSW	11	116148856	nonsense	probably null
X0062:Fbf1	UTSW	11	116149426	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACACAGAGTTTGATCCTCCATCC -3'
(R):5'- TAGCTCAGTCTGGGAGGTTC -3'

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

Posted On

2016-10-24