Mutagenetix > Incidental Mutations

Incidental Mutation 'R8086:Fcgbp'

629654

Institutional Source

Beutler Lab

Gene Symbol

Fcgbp

Ensembl Gene

ENSMUSG00000047730

Gene Name

Fc fragment of IgG binding protein

Synonyms

A430096B05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28071236-28120862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28113964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 2308 (C2308F)

Ref Sequence

ENSEMBL: ENSMUSP00000075945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076648] [ENSMUST00000138392]

AlphaFold

E9Q0B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076648
AA Change: C2308F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075945
Gene: ENSMUSG00000047730
AA Change: C2308F

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
FOLN	27	49	2.3e-4	SMART
VWD	46	211	5.26e-45	SMART
low complexity region	226	237	N/A	INTRINSIC
C8	251	326	1.17e-34	SMART
Pfam:TIL	329	383	1.2e-12	PFAM
VWC	385	431	2.34e-1	SMART
FOLN	418	441	3.48e1	SMART
VWD	438	603	6.85e-35	SMART
C8	642	717	1.4e-32	SMART
Pfam:TIL	720	773	4.7e-14	PFAM
VWC	775	829	9.42e-1	SMART
VWD	824	990	7.86e-44	SMART
C8	1034	1109	1.66e-34	SMART
Pfam:TIL	1112	1165	6.7e-13	PFAM
VWC	1167	1225	9.8e-3	SMART
FOLN	1198	1220	9.55e-1	SMART
FOLN	1224	1246	2.41e0	SMART
VWD	1243	1411	6.59e-37	SMART
C8	1451	1527	5.6e-32	SMART
low complexity region	1541	1551	N/A	INTRINSIC
EGF_like	1558	1581	6.15e1	SMART
VWC	1589	1682	1.6e-2	SMART
VWD	1640	1807	5.15e-39	SMART
C8	1839	1914	4.62e-33	SMART
EGF_like	1942	1965	4.46e1	SMART
VWC	1972	2064	1.92e-1	SMART
VWD	2024	2180	6.34e-39	SMART
low complexity region	2201	2214	N/A	INTRINSIC
C8	2221	2296	3.7e-32	SMART
Pfam:TIL	2299	2352	5e-12	PFAM
VWC	2354	2413	8.29e-1	SMART
FOLN	2385	2407	4.96e1	SMART
VWD	2404	2566	1.89e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000138392
AA Change: C2308F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114271
Gene: ENSMUSG00000047730
AA Change: C2308F

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
FOLN	27	49	2.3e-4	SMART
VWD	46	211	5.26e-45	SMART
low complexity region	226	237	N/A	INTRINSIC
C8	251	326	1.17e-34	SMART
Pfam:TIL	329	383	8.4e-13	PFAM
VWC	385	431	2.34e-1	SMART
FOLN	418	441	3.48e1	SMART
VWD	438	603	7.99e-36	SMART
C8	642	717	1.4e-32	SMART
Pfam:TIL	720	773	3.3e-14	PFAM
VWC	775	829	9.42e-1	SMART
VWD	824	990	7.86e-44	SMART
C8	1034	1109	1.66e-34	SMART
Pfam:TIL	1112	1165	6.9e-13	PFAM
VWC	1167	1225	9.8e-3	SMART
FOLN	1198	1220	9.55e-1	SMART
FOLN	1224	1246	2.41e0	SMART
VWD	1243	1411	6.59e-37	SMART
C8	1451	1527	5.6e-32	SMART
low complexity region	1541	1551	N/A	INTRINSIC
EGF_like	1558	1581	6.15e1	SMART
VWC	1589	1682	1.6e-2	SMART
VWD	1640	1807	5.15e-39	SMART
C8	1839	1914	4.62e-33	SMART
EGF_like	1942	1965	4.46e1	SMART
VWC	1972	2064	1.92e-1	SMART
VWD	2024	2180	6.34e-39	SMART
low complexity region	2201	2214	N/A	INTRINSIC
C8	2221	2296	3.7e-32	SMART
Pfam:TIL	2299	2352	1e-11	PFAM
VWC	2354	2413	8.29e-1	SMART
FOLN	2385	2407	4.96e1	SMART
VWD	2404	2566	1.89e-5	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.4%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,293,178	H372L		Het
4931423N10Rik	A	G	2: 23,240,922		probably null	Het
Abcb1a	A	T	5: 8,674,833	T89S	probably benign	Het
Ago1	A	G	4: 126,460,981	V146A	probably benign	Het
App	T	C	16: 85,120,540	Y72C	unknown	Het
Arhgap20	T	C	9: 51,849,263	S805P	probably benign	Het
Bak1	T	A	17: 27,020,937	R208S	probably benign	Het
Btnl4	A	C	17: 34,474,002		probably null	Het
Cacng7	T	C	7: 3,339,002	S134P	probably benign	Het
Capn9	A	T	8: 124,607,953		probably null	Het
Cox4i1	T	A	8: 120,674,040	M148K	probably damaging	Het
Ctnna1	A	G	18: 35,152,660	I20V	possibly damaging	Het
Dennd2c	T	A	3: 103,133,345	Y309N	possibly damaging	Het
Dnah14	C	A	1: 181,766,232	T3380K	probably damaging	Het
Dnajc3	G	T	14: 118,970,780	E276*	probably null	Het
Dock10	C	A	1: 80,503,990	C1772F	probably benign	Het
Fank1	A	T	7: 133,853,230	E26D	possibly damaging	Het
Fyco1	A	T	9: 123,830,406	M235K	probably damaging	Het
Gm7361	C	T	5: 26,260,448	R148C	probably damaging	Het
Hinfp	C	T	9: 44,298,989	R183Q	probably damaging	Het
Hpd	T	C	5: 123,176,189	Y221C	probably benign	Het
Hrnr	A	T	3: 93,323,421	H322L	unknown	Het
Il6st	T	A	13: 112,494,560		probably null	Het
Impa1	T	C	3: 10,322,928	K145E	probably benign	Het
Itga9	A	T	9: 118,850,801	M847L	probably benign	Het
Itgb6	A	G	2: 60,650,032	V320A	probably damaging	Het
Lrrfip1	T	A	1: 91,115,908	H678Q	probably benign	Het
Mettl16	A	G	11: 74,805,265	T311A	probably benign	Het
Nefl	T	C	14: 68,086,031	Y369H	probably damaging	Het
Olfr412	C	A	11: 74,364,954	P95Q	probably benign	Het
Pkd1	A	G	17: 24,581,214	Y2983C	probably damaging	Het
Prr5l	C	T	2: 101,741,364	E123K	probably benign	Het
Ptprq	A	T	10: 107,646,639	Y1024*	probably null	Het
Ramp2	T	A	11: 101,247,936	L147Q	probably damaging	Het
Rassf1	C	T	9: 107,557,974	R223C	probably benign	Het
Rcbtb2	T	C	14: 73,173,865	F357L	probably damaging	Het
Rnf24	A	G	2: 131,303,548	V114A	probably benign	Het
Slc7a1	T	G	5: 148,352,089	N116T	probably damaging	Het
Sstr2	T	C	11: 113,625,172	C306R	probably damaging	Het
Tatdn2	T	C	6: 113,709,521	S697P	probably damaging	Het
Tmem67	T	A	4: 12,040,738	N935I	probably damaging	Het
Trp73	G	A	4: 154,116,595	P4S	unknown	Het
Vmn1r237	T	G	17: 21,314,247	D77E	possibly damaging	Het
Vmn1r238	C	T	18: 3,123,250	A55T	probably damaging	Het
Vsig10l	C	A	7: 43,465,452	A359E	possibly damaging	Het
Wdr24	T	C	17: 25,826,127	Y279H	probably damaging	Het
Zbtb25	A	G	12: 76,349,149	V433A	probably benign	Het
Zfp180	C	A	7: 24,106,110	D651E	probably benign	Het
Zfp979	T	C	4: 147,613,547	D235G	probably damaging	Het

Other mutations in Fcgbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Fcgbp	APN	7	28085130	missense	probably damaging	1.00
IGL00331:Fcgbp	APN	7	28101541	splice site	probably benign
IGL00335:Fcgbp	APN	7	28086135	missense	possibly damaging	0.90
IGL00470:Fcgbp	APN	7	28075086	nonsense	probably null
IGL00491:Fcgbp	APN	7	28093402	missense	probably damaging	1.00
IGL00498:Fcgbp	APN	7	28091797	missense	probably damaging	1.00
IGL01296:Fcgbp	APN	7	28089647	missense	probably benign	0.15
IGL01582:Fcgbp	APN	7	28093642	missense	probably benign	0.19
IGL01929:Fcgbp	APN	7	28103963	missense	probably damaging	1.00
IGL02024:Fcgbp	APN	7	28106374	missense	probably damaging	1.00
IGL02027:Fcgbp	APN	7	28075204	missense	probably damaging	1.00
IGL02140:Fcgbp	APN	7	28091954	missense	probably damaging	1.00
IGL02162:Fcgbp	APN	7	28075235	missense	probably damaging	1.00
IGL02345:Fcgbp	APN	7	28071643	splice site	probably benign
IGL02377:Fcgbp	APN	7	28106970	missense	possibly damaging	0.67
IGL02389:Fcgbp	APN	7	28075171	missense	probably damaging	1.00
IGL02423:Fcgbp	APN	7	28089953	missense	probably benign	0.02
IGL02523:Fcgbp	APN	7	28104732	missense	possibly damaging	0.89
IGL02561:Fcgbp	APN	7	28101174	intron	probably benign
IGL02631:Fcgbp	APN	7	28085298	missense	probably damaging	1.00
IGL02716:Fcgbp	APN	7	28101434	missense	probably damaging	0.98
IGL02836:Fcgbp	APN	7	28117358	missense	possibly damaging	0.91
IGL02957:Fcgbp	APN	7	28091847	nonsense	probably null
IGL02971:Fcgbp	APN	7	28101473	missense	probably damaging	1.00
IGL03284:Fcgbp	APN	7	28085432	missense	possibly damaging	0.93
IGL03379:Fcgbp	APN	7	28089917	missense	possibly damaging	0.76
bilge	UTSW	7	28117337	missense	probably benign	0.00
R6548_fcgbp_365	UTSW	7	28091918	missense	probably benign	0.00
swill	UTSW	7	28089734	missense	probably damaging	1.00
G1citation:Fcgbp	UTSW	7	28107356	missense	probably damaging	1.00
IGL02796:Fcgbp	UTSW	7	28101151	intron	probably benign
PIT4486001:Fcgbp	UTSW	7	28075273	missense	possibly damaging	0.52
R0277:Fcgbp	UTSW	7	28085493	critical splice donor site	probably null
R0387:Fcgbp	UTSW	7	28091454	splice site	probably benign
R0586:Fcgbp	UTSW	7	28089713	missense	probably damaging	1.00
R0981:Fcgbp	UTSW	7	28085110	nonsense	probably null
R0987:Fcgbp	UTSW	7	28094174	missense	probably damaging	1.00
R1240:Fcgbp	UTSW	7	28120525	missense	probably damaging	1.00
R1394:Fcgbp	UTSW	7	28093379	missense	probably damaging	0.98
R1395:Fcgbp	UTSW	7	28093379	missense	probably damaging	0.98
R1438:Fcgbp	UTSW	7	28103733	nonsense	probably null
R1474:Fcgbp	UTSW	7	28091848	missense	probably benign	0.00
R1521:Fcgbp	UTSW	7	28075160	missense	probably benign	0.00
R1740:Fcgbp	UTSW	7	28101249	missense	possibly damaging	0.87
R1750:Fcgbp	UTSW	7	28093443	nonsense	probably null
R1772:Fcgbp	UTSW	7	28105175	missense	possibly damaging	0.90
R1804:Fcgbp	UTSW	7	28086139	missense	probably benign
R1808:Fcgbp	UTSW	7	28085090	missense	probably benign	0.04
R1819:Fcgbp	UTSW	7	28085283	missense	probably benign	0.00
R1934:Fcgbp	UTSW	7	28107093	missense	probably damaging	1.00
R1972:Fcgbp	UTSW	7	28094192	missense	probably benign	0.11
R2051:Fcgbp	UTSW	7	28120360	missense	probably damaging	0.97
R2072:Fcgbp	UTSW	7	28120389	missense	probably damaging	0.98
R2074:Fcgbp	UTSW	7	28120389	missense	probably damaging	0.98
R2124:Fcgbp	UTSW	7	28092019	missense	probably benign	0.03
R2155:Fcgbp	UTSW	7	28107203	missense	probably benign	0.00
R3015:Fcgbp	UTSW	7	28075413	splice site	probably benign
R3037:Fcgbp	UTSW	7	28102702	missense	possibly damaging	0.62
R3151:Fcgbp	UTSW	7	28117240	missense	probably damaging	1.00
R3176:Fcgbp	UTSW	7	28091661	missense	probably damaging	0.99
R3177:Fcgbp	UTSW	7	28091661	missense	probably damaging	0.99
R3276:Fcgbp	UTSW	7	28091661	missense	probably damaging	0.99
R3277:Fcgbp	UTSW	7	28091661	missense	probably damaging	0.99
R3623:Fcgbp	UTSW	7	28101276	missense	probably damaging	1.00
R3730:Fcgbp	UTSW	7	28085457	missense	possibly damaging	0.82
R3935:Fcgbp	UTSW	7	28075399	missense	probably benign	0.00
R3936:Fcgbp	UTSW	7	28075399	missense	probably benign	0.00
R4041:Fcgbp	UTSW	7	28113979	missense	probably benign	0.01
R4056:Fcgbp	UTSW	7	28104116	missense	probably benign	0.09
R4057:Fcgbp	UTSW	7	28104116	missense	probably benign	0.09
R4705:Fcgbp	UTSW	7	28107296	missense	probably benign	0.44
R4708:Fcgbp	UTSW	7	28094961	missense	probably benign	0.00
R4710:Fcgbp	UTSW	7	28094961	missense	probably benign	0.00
R4779:Fcgbp	UTSW	7	28094937	missense	probably damaging	1.00
R4820:Fcgbp	UTSW	7	28113958	missense	probably damaging	1.00
R4863:Fcgbp	UTSW	7	28086344	missense	probably benign	0.33
R4926:Fcgbp	UTSW	7	28086235	missense	probably damaging	0.99
R4947:Fcgbp	UTSW	7	28089812	missense	probably benign	0.00
R4979:Fcgbp	UTSW	7	28117570	missense	probably benign	0.06
R5002:Fcgbp	UTSW	7	28086103	splice site	probably null
R5219:Fcgbp	UTSW	7	28104085	missense	probably damaging	1.00
R5241:Fcgbp	UTSW	7	28085199	missense	probably damaging	1.00
R5301:Fcgbp	UTSW	7	28093674	missense	possibly damaging	0.93
R5306:Fcgbp	UTSW	7	28091818	missense	probably damaging	1.00
R5335:Fcgbp	UTSW	7	28089734	missense	probably damaging	1.00
R5399:Fcgbp	UTSW	7	28105055	missense	probably benign	0.05
R5418:Fcgbp	UTSW	7	28085313	missense	probably damaging	1.00
R5527:Fcgbp	UTSW	7	28093635	missense	probably benign
R5583:Fcgbp	UTSW	7	28091579	missense	probably damaging	1.00
R5698:Fcgbp	UTSW	7	28092022	missense	possibly damaging	0.95
R5780:Fcgbp	UTSW	7	28085218	missense	probably benign	0.02
R5813:Fcgbp	UTSW	7	28101494	missense	possibly damaging	0.64
R5910:Fcgbp	UTSW	7	28085503	splice site	probably benign
R5936:Fcgbp	UTSW	7	28086692	missense	probably damaging	0.98
R5992:Fcgbp	UTSW	7	28120534	missense	probably benign	0.05
R6091:Fcgbp	UTSW	7	28104965	missense	possibly damaging	0.90
R6372:Fcgbp	UTSW	7	28107008	missense	probably damaging	1.00
R6488:Fcgbp	UTSW	7	28093538	missense	probably damaging	0.96
R6548:Fcgbp	UTSW	7	28091918	missense	probably benign	0.00
R6553:Fcgbp	UTSW	7	28113979	missense	possibly damaging	0.79
R6585:Fcgbp	UTSW	7	28113979	missense	possibly damaging	0.79
R6695:Fcgbp	UTSW	7	28086270	nonsense	probably null
R6711:Fcgbp	UTSW	7	28089673	missense	probably damaging	0.99
R6803:Fcgbp	UTSW	7	28103212	missense	probably benign	0.00
R6822:Fcgbp	UTSW	7	28107356	missense	probably damaging	1.00
R6907:Fcgbp	UTSW	7	28085018	missense	probably damaging	1.00
R6912:Fcgbp	UTSW	7	28089704	missense	probably benign	0.15
R6924:Fcgbp	UTSW	7	28093823	missense	probably benign
R6943:Fcgbp	UTSW	7	28092052	missense	probably benign	0.22
R7060:Fcgbp	UTSW	7	28091933	missense	probably benign	0.20
R7103:Fcgbp	UTSW	7	28084962	missense	probably benign	0.00
R7208:Fcgbp	UTSW	7	28104021	missense	probably benign	0.01
R7291:Fcgbp	UTSW	7	28101392	missense	probably benign	0.00
R7301:Fcgbp	UTSW	7	28093436	missense	possibly damaging	0.65
R7404:Fcgbp	UTSW	7	28101507	missense	probably damaging	1.00
R7426:Fcgbp	UTSW	7	28086524	missense	probably benign	0.00
R7459:Fcgbp	UTSW	7	28107285	missense	possibly damaging	0.65
R7475:Fcgbp	UTSW	7	28102976	missense	probably damaging	0.99
R7505:Fcgbp	UTSW	7	28089674	missense	probably damaging	0.97
R7517:Fcgbp	UTSW	7	28085369	missense	probably damaging	1.00
R7519:Fcgbp	UTSW	7	28086299	missense	probably damaging	1.00
R7524:Fcgbp	UTSW	7	28102966	missense	probably damaging	1.00
R7649:Fcgbp	UTSW	7	28091503	missense	possibly damaging	0.88
R7782:Fcgbp	UTSW	7	28085035	nonsense	probably null
R7820:Fcgbp	UTSW	7	28120359	missense	probably benign	0.01
R7831:Fcgbp	UTSW	7	28106979	missense	probably damaging	0.98
R7835:Fcgbp	UTSW	7	28117207	missense	possibly damaging	0.64
R7947:Fcgbp	UTSW	7	28104170	critical splice donor site	probably null
R8137:Fcgbp	UTSW	7	28105071	missense	probably damaging	1.00
R8154:Fcgbp	UTSW	7	28085082	missense	probably benign	0.00
R8169:Fcgbp	UTSW	7	28085494	critical splice donor site	probably null
R8176:Fcgbp	UTSW	7	28091749	missense	possibly damaging	0.88
R8193:Fcgbp	UTSW	7	28104851	missense	probably damaging	1.00
R8313:Fcgbp	UTSW	7	28086344	missense	probably benign	0.00
R8350:Fcgbp	UTSW	7	28094189	missense	probably benign	0.02
R8382:Fcgbp	UTSW	7	28117337	missense	probably benign	0.00
R8393:Fcgbp	UTSW	7	28107390	missense	probably benign	0.18
R8438:Fcgbp	UTSW	7	28089806	missense	probably benign	0.25
R8489:Fcgbp	UTSW	7	28105010	missense	possibly damaging	0.94
R8495:Fcgbp	UTSW	7	28086553	missense	probably damaging	1.00
R8707:Fcgbp	UTSW	7	28120495	missense	probably benign	0.01
R8736:Fcgbp	UTSW	7	28106196	missense	probably benign	0.05
R8816:Fcgbp	UTSW	7	28084987	missense	probably benign	0.09
R8905:Fcgbp	UTSW	7	28086509	missense	probably damaging	1.00
R9031:Fcgbp	UTSW	7	28091483	missense	possibly damaging	0.89
R9063:Fcgbp	UTSW	7	28091852	missense	probably damaging	1.00
R9180:Fcgbp	UTSW	7	28103773	nonsense	probably null
R9262:Fcgbp	UTSW	7	28120527	missense	probably damaging	1.00
R9439:Fcgbp	UTSW	7	28104011	missense	possibly damaging	0.60
RF002:Fcgbp	UTSW	7	28089755	missense	probably benign
X0028:Fcgbp	UTSW	7	28104020	missense	possibly damaging	0.48
Z1186:Fcgbp	UTSW	7	28086191	missense	probably benign
Z1186:Fcgbp	UTSW	7	28089755	missense	probably benign
Z1186:Fcgbp	UTSW	7	28091647	missense	probably benign
Z1186:Fcgbp	UTSW	7	28093345	missense	probably benign
Z1186:Fcgbp	UTSW	7	28103884	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGGTTAGAGGCCTCTCAGAC -3'
(R):5'- CCCACTCACCGGCATATATTG -3'

Sequencing Primer
(F):5'- TTAGAGGCCTCTCAGACGTCAC -3'
(R):5'- ATTGGCCGTTATGGACAC -3'

Posted On

2020-06-30