Mutagenetix > Incidental Mutations

Incidental Mutation 'R3623:Fcgbp'

268721

Institutional Source

Beutler Lab

Gene Symbol

Fcgbp

Ensembl Gene

ENSMUSG00000047730

Gene Name

Fc fragment of IgG binding protein

Synonyms

A430096B05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3623 (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 28101276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1249 (Y1249C)

Ref Sequence

ENSEMBL: ENSMUSP00000114271 (fasta)

Gene Model

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

AlphaFold

E9Q0B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076648
AA Change: Y1249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075945
Gene: ENSMUSG00000047730
AA Change: Y1249C

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

unknown
Transcript: ENSMUST00000098634
AA Change: I91T

Predicted Effect

probably damaging
Transcript: ENSMUST00000138392
AA Change: Y1249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114271
Gene: ENSMUSG00000047730
AA Change: Y1249C

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

0.2551

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Bscl2	T	A	19: 8,841,150	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Camk2g	G	A	14: 20,755,707		probably benign	Het
Cd109	A	T	9: 78,667,357	D541V	probably damaging	Het
Cep135	G	A	5: 76,624,739	G657D	probably benign	Het
Coch	A	G	12: 51,602,826	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,127,536	E141G	probably benign	Het
Ddias	T	C	7: 92,859,592	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877	Q216R	probably benign	Het
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Ephx1	A	G	1: 180,989,933	I391T	probably benign	Het
Fam208b	T	C	13: 3,595,556	T98A	probably benign	Het
Gm38100	T	C	1: 175,920,631	C88R	possibly damaging	Het
Gm5592	T	C	7: 41,157,628		probably benign	Het
Gm7964	A	G	7: 83,756,421	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,190,065	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Irs2	C	T	8: 11,007,643	G263D	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Kmt2a	A	G	9: 44,848,966	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,320	N108K	probably damaging	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,206,697	I130F	probably damaging	Het
Mlh3	C	T	12: 85,268,395	C339Y	probably damaging	Het
Mog	T	C	17: 37,012,446	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,784,198	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,165,266	H324R	probably damaging	Het
Myh7	T	C	14: 54,973,381	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,223	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,844,399	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,265,907		probably benign	Het
Nsd3	A	G	8: 25,662,819	T392A	probably damaging	Het
Olfr305	A	G	7: 86,364,100	F79S	probably benign	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499	S200T	probably benign	Het
Pcnt	T	A	10: 76,433,750	E228V	probably benign	Het
Phka2	T	A	X: 160,544,295	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,526,869	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,283		noncoding transcript	Het
Rspry1	A	G	8: 94,649,777	D309G	probably damaging	Het
Scap	A	G	9: 110,380,203	Y648C	probably damaging	Het
Sgcz	T	C	8: 37,953,047	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,538,274	V433D	probably damaging	Het
Smad9	C	T	3: 54,789,284	R257W	probably damaging	Het
Srcap	T	C	7: 127,542,147	S1639P	probably damaging	Het
Strn3	T	C	12: 51,661,216	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,868,470	M155L	probably benign	Het
Thbd	A	G	2: 148,406,973	V325A	probably damaging	Het
Trpd52l3	T	A	19: 30,003,933	C29*	probably null	Het
Trpm1	A	G	7: 64,244,853	Y951C	probably damaging	Het
Ube3a	T	A	7: 59,272,112	N77K	probably damaging	Het
Upp2	G	A	2: 58,790,116	R300Q	possibly damaging	Het
Usp35	T	C	7: 97,312,620	H533R	probably damaging	Het
Veph1	C	T	3: 66,215,437	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907		probably null	Het
Vps37c	T	A	19: 10,706,205		probably null	Het
Zap70	C	T	1: 36,779,135	T301I	probably benign	Het
Zfp341	A	G	2: 154,624,881	K57E	probably damaging	Het
Zfp60	T	A	7: 27,749,328	F474I	probably benign	Het
Zfp786	T	C	6: 47,821,423	N194D	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
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
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'- ACACTAAGGTCTGGTCACAGC -3'
(R):5'- CTGTCTCACGTAGGACACAG -3'

Sequencing Primer
(F):5'- TAAGGTCTGGTCACAGCTGCAG -3'
(R):5'- TAGGACACAGCGGGGCTAC -3'

Posted On

2015-02-19