Mutagenetix > Incidental Mutations

Incidental Mutation 'R1740:Fcgbp'

200277

Institutional Source

Beutler Lab

Gene Symbol

Fcgbp

Ensembl Gene

ENSMUSG00000047730

Gene Name

Fc fragment of IgG binding protein

Synonyms

A430096B05Rik

MMRRC Submission

039772-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28071236-28120862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28101249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 1240 (G1240V)

Ref Sequence

ENSEMBL: ENSMUSP00000114271 (fasta)

Gene Model

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

AlphaFold

E9Q0B5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076648
AA Change: G1240V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075945
Gene: ENSMUSG00000047730
AA Change: G1240V

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

possibly damaging
Transcript: ENSMUST00000138392
AA Change: G1240V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114271
Gene: ENSMUSG00000047730
AA Change: G1240V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148946

Meta Mutation Damage Score

0.1613

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,626,125	C417*	probably null	Het
4930548G14Rik	G	A	15: 46,625,489		noncoding transcript	Het
Abcc12	T	A	8: 86,505,497	K1311*	probably null	Het
Abcc12	T	C	8: 86,509,771	D1138G	possibly damaging	Het
Adam32	A	G	8: 24,921,298	S116P	probably damaging	Het
Arhgef26	C	T	3: 62,423,583	L39F	probably damaging	Het
Babam1	T	C	8: 71,403,019	I252T	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Ccdc109b	A	T	3: 129,918,727	H166Q	probably benign	Het
Ccdc61	G	T	7: 18,903,937		probably benign	Het
Ccdc89	C	T	7: 90,426,738	S52F	probably damaging	Het
Cds2	T	A	2: 132,302,213	I320N	possibly damaging	Het
Cebpe	T	C	14: 54,711,942	Y6C	probably damaging	Het
Cep250	T	A	2: 155,973,356	I598N	probably damaging	Het
Cep350	T	A	1: 155,928,833	I835F	probably damaging	Het
Ces3a	T	C	8: 105,048,685	L22P	probably damaging	Het
Cfap221	T	C	1: 119,945,828	S490G	probably benign	Het
Cyp2j11	A	G	4: 96,319,376	V234A	probably benign	Het
Dgat1	T	C	15: 76,502,729	H399R	probably damaging	Het
Dnah10	A	T	5: 124,773,190		probably null	Het
Ebpl	T	G	14: 61,341,207	K193T	probably benign	Het
Elmsan1	T	C	12: 84,172,902	E426G	probably damaging	Het
Entpd5	T	C	12: 84,396,771	N66S	probably benign	Het
Gabra5	A	G	7: 57,421,842	S209P	probably benign	Het
Glce	A	T	9: 62,070,533	V23D	probably damaging	Het
Gm14226	GACTGTTAC	GAC	2: 155,024,931		probably benign	Het
Gtf2h1	A	G	7: 46,812,466	N296S	probably null	Het
Herc6	T	C	6: 57,652,065	S654P	probably benign	Het
Kcnk3	A	T	5: 30,621,977	M124L	possibly damaging	Het
Lamb2	T	G	9: 108,481,928	V281G	probably damaging	Het
Lctl	A	T	9: 64,133,107	D444V	probably damaging	Het
Mcm2	A	G	6: 88,884,044	F891L	probably damaging	Het
Mical2	G	T	7: 112,333,836	R739L	probably benign	Het
Mkrn2	G	T	6: 115,613,369	A229S	probably damaging	Het
Mmp7	A	G	9: 7,695,277	Y80C	possibly damaging	Het
Mpp2	T	C	11: 102,062,396		probably null	Het
Msh6	C	A	17: 87,985,722	T635K	possibly damaging	Het
Mvd	T	A	8: 122,436,547	T315S	probably benign	Het
Myocd	C	T	11: 65,218,521		probably benign	Het
Nav1	C	T	1: 135,458,389		probably null	Het
Olfr1298	T	A	2: 111,645,869	I43F	probably damaging	Het
Pde4b	A	T	4: 102,487,351	D141V	probably damaging	Het
Pdgfrb	A	T	18: 61,081,833	D978V	possibly damaging	Het
Prss55	T	C	14: 64,075,680	T252A	probably damaging	Het
Psd3	A	T	8: 68,120,839	V230E	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptprn	A	G	1: 75,262,050	V82A	probably damaging	Het
Ptpru	G	T	4: 131,793,678		probably null	Het
Raph1	T	A	1: 60,519,024	K258*	probably null	Het
Rnf25	A	G	1: 74,598,727	V28A	probably damaging	Het
Slc25a4	C	T	8: 46,208,503	V212M	probably benign	Het
Slc39a3	T	C	10: 81,031,508	S135G	probably damaging	Het
Slco6d1	A	G	1: 98,428,372	I220M	probably damaging	Het
Smim19	G	T	8: 22,473,528	Y21*	probably null	Het
Speer4f1	A	C	5: 17,478,761	Y141S	probably damaging	Het
Srgap2	G	A	1: 131,289,388	P1062L	probably benign	Het
Stra8	A	T	6: 34,927,719		probably benign	Het
Timm21	G	C	18: 84,949,262	L130V	probably damaging	Het
Tmem40	A	G	6: 115,738,999	S76P	probably benign	Het
Unc13b	C	T	4: 43,240,285	R3569W	probably damaging	Het
Vmn1r128	A	T	7: 21,349,944	Q191L	probably benign	Het
Washc2	T	A	6: 116,231,632		probably benign	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
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
R8086:Fcgbp	UTSW	7	28113964	missense	probably damaging	1.00
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'- TGGGTTCTCAGATGTAACACACAGC -3'
(R):5'- ACATACCCGGACTTTGCCGATCTC -3'

Sequencing Primer
(F):5'- TGTCAAGACACTAAGGTCTGGTC -3'
(R):5'- ACAGTGACCTGTCTCACGTAG -3'

Posted On

2014-05-23