Mutagenetix > Incidental Mutations

Incidental Mutation 'R4947:Fcgbp'

383495

Institutional Source

Beutler Lab

Gene Symbol

Fcgbp

Ensembl Gene

ENSMUSG00000047730

Gene Name

Fc fragment of IgG binding protein

Synonyms

A430096B05Rik

MMRRC Submission

042544-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28071236-28120862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28089812 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 601 (K601R)

Ref Sequence

ENSEMBL: ENSMUSP00000075945 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076648
AA Change: K601R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000075945
Gene: ENSMUSG00000047730
AA Change: K601R

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 benign
Transcript: ENSMUST00000138392
AA Change: K601R

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

SMART Domains

Protein: ENSMUSP00000114271
Gene: ENSMUSG00000047730
AA Change: K601R

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: ENSMUST00000140004

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,357,614	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Adamtsl1	A	T	4: 85,764,800	Q36L	possibly damaging	Het
Als2cr12	T	A	1: 58,676,539	T173S	probably benign	Het
BC117090	T	C	16: 36,321,765	Y83C	probably damaging	Het
Bcl2a1a	G	A	9: 88,957,282	E78K	probably damaging	Het
C130026I21Rik	G	A	1: 85,112,482	A124V	probably damaging	Het
Cdk5rap2	A	G	4: 70,228,592		probably null	Het
Copg1	C	A	6: 87,903,473		probably benign	Het
Crb2	C	T	2: 37,795,331		probably benign	Het
Ctbp2	C	A	7: 132,999,283	G584C	probably damaging	Het
Cyp11b2	T	C	15: 74,851,570	N415S	possibly damaging	Het
D630003M21Rik	T	A	2: 158,186,196	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,148,543	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,372	V1078E	probably benign	Het
Donson	A	T	16: 91,682,551	D366E	probably damaging	Het
Evpl	T	C	11: 116,223,375	E1163G	possibly damaging	Het
Fez1	A	C	9: 36,868,875	I323L	probably damaging	Het
Fmnl2	T	G	2: 53,073,710	S285A	probably benign	Het
Frem1	A	G	4: 82,966,134	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,682,148		probably benign	Het
Gm14226	A	T	2: 155,024,959	T279S	probably benign	Het
Gm16332	G	A	1: 139,865,992		noncoding transcript	Het
Gm21718	T	A	14: 51,315,959		noncoding transcript	Het
Gm9866	A	T	12: 27,160,228		noncoding transcript	Het
Gm9871	A	G	6: 101,796,773		noncoding transcript	Het
Grm1	A	G	10: 10,782,633	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,591,956	I128V	probably null	Het
H2-Q3	T	A	17: 35,359,732		noncoding transcript	Het
Ibtk	T	C	9: 85,710,412	T998A	probably benign	Het
Ifi204	A	G	1: 173,755,750	S301P	probably damaging	Het
Kcnn1	C	A	8: 70,844,429	A545S	probably benign	Het
Keap1	T	G	9: 21,237,553	S53R	probably benign	Het
Lat	A	G	7: 126,367,938	V138A	probably benign	Het
Lrpprc	A	T	17: 84,771,538	N249K	probably benign	Het
Lrrc40	A	G	3: 158,063,835	I557V	probably benign	Het
Maml3	A	G	3: 51,856,539	F335L	probably benign	Het
Mcmbp	A	T	7: 128,712,696	D265E	probably damaging	Het
Me3	A	G	7: 89,633,014	H35R	probably benign	Het
Mif4gd	C	A	11: 115,609,637	V32L	probably benign	Het
Mlana	T	C	19: 29,700,151	S18P	probably damaging	Het
Mpnd	T	A	17: 56,010,268		probably benign	Het
Ms4a4b	T	C	19: 11,454,737	V74A	probably benign	Het
Mta2	T	C	19: 8,946,291	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,123,048	M150V	probably damaging	Het
Nbr1	T	C	11: 101,575,077	V487A	probably benign	Het
Nos3	G	A	5: 24,377,855	C660Y	probably damaging	Het
Ocln	T	C	13: 100,539,715	D90G	probably damaging	Het
Olfr109	T	C	17: 37,466,743	V179A	probably damaging	Het
Olfr186	A	G	16: 59,027,445	L154P	probably damaging	Het
Olfr376	C	T	11: 73,375,417	R223*	probably null	Het
Olfr669	A	G	7: 104,938,742	D72G	possibly damaging	Het
Pcdh7	A	G	5: 57,721,916	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,487,961	F166L	probably benign	Het
Pid1	A	T	1: 84,038,260	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,482,464	D187E	probably benign	Het
Prokr2	T	C	2: 132,373,653	D135G	probably damaging	Het
Rnf141	T	C	7: 110,825,320	T14A	possibly damaging	Het
Serinc1	T	C	10: 57,523,045	E254G	probably damaging	Het
Skint11	T	C	4: 114,191,510	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,131,452	T109A	probably benign	Het
Sntg1	C	A	1: 8,782,798	V43L	probably damaging	Het
Strn	T	C	17: 78,661,779	D398G	probably damaging	Het
Tacc2	A	T	7: 130,625,899	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,141,566	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,138,944		probably benign	Het
Thbs3	T	C	3: 89,226,431	Y897H	probably damaging	Het
Timm50	G	T	7: 28,310,044		probably benign	Het
Tmem132a	T	C	19: 10,866,934	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Unc93b1	C	A	19: 3,935,871	T90K	probably benign	Het
Upk3bl	T	C	5: 136,057,245		probably benign	Het
Vmn2r112	T	A	17: 22,602,879	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,400,495	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,194,698	L786R	probably damaging	Het
Zc3h14	A	G	12: 98,759,824	T323A	probably benign	Het
Zfp532	T	C	18: 65,625,066	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,596,672	N47S	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
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
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
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
RF002:Fcgbp	UTSW	7	28089755	missense	probably benign
X0028:Fcgbp	UTSW	7	28104020	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GGAAGATTCAGGTGTACCGC -3'
(R):5'- ACACAGTCACGTATGGCACC -3'

Sequencing Primer
(F):5'- TACCGCCAGGGCAATGATG -3'
(R):5'- GGTTCAGCAACTTGTGACAC -3'

Posted On

2016-04-27