Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Fbf1'

651611

Institutional Source

Beutler Lab

Gene Symbol

Fbf1

Ensembl Gene

ENSMUSG00000020776

Gene Name

Fas (TNFRSF6) binding factor 1

Synonyms

1110033G01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116142285-116168166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116152768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 405 (D405G)

Ref Sequence

ENSEMBL: ENSMUSP00000102043 (fasta)

Gene Model

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

AlphaFold

A2A870

Predicted Effect

probably benign
Transcript: ENSMUST00000103031
AA Change: D405G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: D405G

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: D405G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: D405G

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	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
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
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'- TCTGAGATATGACATGGCTTAACC -3'
(R):5'- ACAGAATCAGTTTCCTCCCCG -3'

Sequencing Primer
(F):5'- GGCTTAACCAGTCATCTTCTTTC -3'
(R):5'- TCCTCTTTGTCTTGAAGCAGG -3'

Posted On

2020-09-15