Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Fbf1'

34798

Institutional Source

Beutler Lab

Gene Symbol

Fbf1

Ensembl Gene

ENSMUSG00000020776

Gene Name

Fas (TNFRSF6) binding factor 1

Synonyms

1110033G01Rik

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

116142285-116168166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116155091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 226 (I226V)

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: I226V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: I226V

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: I226V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: I226V

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: I226V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114558
Gene: ENSMUSG00000020776
AA Change: I226V

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

Meta Mutation Damage Score

0.0623

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	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
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
R5561:Fbf1	UTSW	11	116157820	missense	probably damaging	1.00
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'- ACCCAGCAGTTCATCCAGCTTG -3'
(R):5'- AGCTTTCTAGCACAGAGCCAGACC -3'

Sequencing Primer
(F):5'- AGTTCATCCAGCTTGGAGCG -3'
(R):5'- TGATCAGGCTCCAGGATTAAC -3'

Posted On

2013-05-09