Mutagenetix > Incidental Mutations

Incidental Mutation 'R0586:Fcgbp'

55758

Institutional Source

Beutler Lab

Gene Symbol

Fcgbp

Ensembl Gene

ENSMUSG00000047730

Gene Name

Fc fragment of IgG binding protein

Synonyms

A430096B05Rik

MMRRC Submission

038776-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28071236-28120862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28089713 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 568 (D568V)

Ref Sequence

ENSEMBL: ENSMUSP00000114271 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076648
AA Change: D568V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075945
Gene: ENSMUSG00000047730
AA Change: D568V

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: D568V

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

SMART Domains

Protein: ENSMUSP00000114271
Gene: ENSMUSG00000047730
AA Change: D568V

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

0.6467

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,137,091	V145D	probably damaging	Het
Abca1	A	T	4: 53,092,860	V308E	probably benign	Het
Amy1	A	G	3: 113,562,769		probably benign	Het
Astn2	C	T	4: 66,185,142	V345M	unknown	Het
Brwd1	T	C	16: 96,043,086	E756G	probably damaging	Het
Ccpg1	C	T	9: 73,001,821	L135F	probably benign	Het
Cecr2	C	T	6: 120,757,884	H694Y	probably damaging	Het
Cfh	G	A	1: 140,183,182	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,813,434	R268*	probably null	Het
Clca1	T	A	3: 145,032,589	I53L	probably benign	Het
Clcn6	A	G	4: 148,038,749		probably benign	Het
Cnfn	C	T	7: 25,367,831	V98I	probably benign	Het
Cntnap1	C	T	11: 101,187,014	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,295,063	E384V	probably damaging	Het
Ctr9	T	C	7: 111,049,498		probably benign	Het
Ctsj	T	A	13: 61,003,701		probably benign	Het
Cyp2c39	A	C	19: 39,513,490		probably benign	Het
Dock5	A	C	14: 67,809,032	I767S	probably damaging	Het
Eftud2	T	C	11: 102,846,620	T552A	probably damaging	Het
Epdr1	A	G	13: 19,594,545	I25T	probably damaging	Het
Fam160a2	T	C	7: 105,389,447	E195G	probably damaging	Het
Fam208b	A	G	13: 3,590,321	L272P	probably damaging	Het
Frem2	T	A	3: 53,647,921	T1732S	probably damaging	Het
Fuz	T	C	7: 44,898,558	V183A	possibly damaging	Het
Grb7	T	C	11: 98,453,220	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,318,887	G40C	probably damaging	Het
Kcnn1	T	C	8: 70,863,869		probably benign	Het
Kmt2d	C	A	15: 98,835,207		probably benign	Het
L3mbtl3	A	G	10: 26,327,834	V366A	unknown	Het
Ldlr	G	A	9: 21,739,744	R486H	probably benign	Het
Lnpep	A	T	17: 17,575,396		probably benign	Het
Mical3	A	T	6: 121,029,641		probably benign	Het
Myh15	T	C	16: 49,171,887		probably benign	Het
Nup155	T	A	15: 8,130,232	H542Q	probably benign	Het
Olfr1100	T	C	2: 86,978,782	N5D	probably damaging	Het
Olfr1240	T	A	2: 89,439,354	R308S	possibly damaging	Het
Olfr53	T	C	7: 140,652,063	F28S	probably benign	Het
Olfr780	A	G	10: 129,322,047	I141M	probably benign	Het
Olfr967	A	T	9: 39,751,118	H244L	probably damaging	Het
Opn4	A	G	14: 34,598,973		probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 143,743,893		probably benign	Het
Parp14	T	C	16: 35,841,012	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,524,111	D1259E	probably benign	Het
Pogz	C	T	3: 94,879,353	A1084V	probably damaging	Het
Popdc3	G	A	10: 45,315,263	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,184	Y423C	probably damaging	Het
Qrich1	C	T	9: 108,534,520	H415Y	probably damaging	Het
Rabgap1	A	G	2: 37,543,223	N801D	probably benign	Het
Rb1	A	G	14: 73,287,684		probably benign	Het
Rp1	A	T	1: 4,347,837	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,635,559	D356G	probably null	Het
Skint8	C	G	4: 111,936,929	P172R	probably damaging	Het
Slc12a8	T	G	16: 33,658,230	M643R	possibly damaging	Het
Sult1c1	A	T	17: 53,964,085		probably benign	Het
Tcaf1	T	A	6: 42,673,539	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,217,401	N78S	probably damaging	Het
Tectb	A	T	19: 55,181,924	Y69F	probably damaging	Het
Them4	A	T	3: 94,329,794	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,256,143		probably null	Het
Tnik	G	T	3: 28,577,361		probably benign	Het
Tns2	G	T	15: 102,109,585		probably benign	Het
Tnxb	A	G	17: 34,672,144	D487G	probably damaging	Het
Trim33	T	A	3: 103,310,344	C202S	probably damaging	Het
Trpm2	T	A	10: 77,923,516	I1145F	probably damaging	Het
Trpv2	A	G	11: 62,592,770	T478A	probably benign	Het
Ube2e3	T	C	2: 78,919,990	Y187H	probably benign	Het
Ubxn11	A	G	4: 134,109,652	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,459,066	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,268,728	S1325T	possibly 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
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
R7914:Fcgbp	UTSW	7	28106979	missense	probably damaging	0.98
R7918:Fcgbp	UTSW	7	28117207	missense	possibly damaging	0.64
RF002:Fcgbp	UTSW	7	28089755	missense	probably benign
X0028:Fcgbp	UTSW	7	28104020	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GCTGAGTGAAAACACGAAAACCCTG -3'
(R):5'- AATTTGCTGGGTCACAAGGGAGTC -3'

Sequencing Primer
(F):5'- GAAAACCCTGACTGACCTGTTG -3'
(R):5'- ACAGTCACCAGGTTCAGTTGC -3'

Posted On

2013-07-11