Mutagenetix > Incidental Mutations

Incidental Mutation 'R5241:Fcgbp'

400818

Institutional Source

Beutler Lab

Gene Symbol

Fcgbp

Ensembl Gene

ENSMUSG00000047730

Gene Name

Fc fragment of IgG binding protein

Synonyms

A430096B05Rik

MMRRC Submission

042812-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28071236-28120862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28085199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 228 (D228V)

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: D228V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075945
Gene: ENSMUSG00000047730
AA Change: D228V

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: D228V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114271
Gene: ENSMUSG00000047730
AA Change: D228V

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930033H14Rik	A	G	10: 69,212,751		probably null	Het
Adgrb3	T	C	1: 25,111,790	T881A	possibly damaging	Het
Adgrv1	A	T	13: 81,488,929	C3464*	probably null	Het
Afp	A	G	5: 90,501,614	M347V	probably benign	Het
Apc2	A	G	10: 80,312,234	T1041A	probably benign	Het
Atl1	T	C	12: 69,959,113	S398P	possibly damaging	Het
Atp8b4	G	A	2: 126,383,726	P528L	probably benign	Het
Bahcc1	C	A	11: 120,271,403	P176T	probably damaging	Het
Bsnd	A	G	4: 106,487,985	V88A	probably benign	Het
Dnah7c	T	A	1: 46,530,500	F687Y	probably benign	Het
Dok6	T	C	18: 89,598,789	I23M	possibly damaging	Het
Gatad2a	G	A	8: 69,918,017	Q107*	probably null	Het
Glis3	G	T	19: 28,350,023	T663K	probably benign	Het
Gm10784	T	A	13: 49,945,093		noncoding transcript	Het
Gsdmc2	C	T	15: 63,824,894	R476H	probably benign	Het
Gsdmc3	A	G	15: 63,864,146	S202P	possibly damaging	Het
Map3k8	T	C	18: 4,340,750	E188G	probably damaging	Het
Mccc1	T	A	3: 35,974,196	Q487L	probably benign	Het
Msantd1	A	G	5: 34,921,469	D116G	probably damaging	Het
Myh1	T	A	11: 67,204,449	S212T	probably benign	Het
Nr1h4	A	G	10: 89,483,489	Y158H	probably damaging	Het
Olfr1180	T	C	2: 88,412,098	T187A	possibly damaging	Het
Olfr421-ps1	T	A	1: 174,152,101	I195N	probably benign	Het
Olfr585	T	C	7: 103,098,317	V192A	probably benign	Het
Pcnt	A	T	10: 76,433,617	H272Q	probably benign	Het
Pdia5	T	C	16: 35,429,775	N242S	probably benign	Het
Pkd1l2	A	T	8: 117,035,118	D1441E	probably damaging	Het
Runx2	G	T	17: 44,639,777	Y203*	probably null	Het
Sdr9c7	T	G	10: 127,909,790	I257S	probably benign	Het
Slitrk1	A	G	14: 108,913,012	M89T	probably benign	Het
St14	G	T	9: 31,100,418	C397*	probably null	Het
Tas2r123	T	C	6: 132,847,218	I26T	probably benign	Het
Tmem144	A	T	3: 79,814,124	M329K	probably benign	Het
Tmem252	T	C	19: 24,674,127	M20T	probably benign	Het
Umodl1	T	C	17: 30,984,092	V473A	probably benign	Het
Wdr70	A	G	15: 8,079,216	C149R	probably benign	Het
Xirp2	C	T	2: 67,482,360	R58*	probably null	Het
Zer1	A	C	2: 30,104,970	L471R	probably damaging	Het
Zfp101	C	T	17: 33,382,236	C182Y	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
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
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	not run
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'- CCTACGTGTGCACAAAAGTGG -3'
(R):5'- CACAATCATCTAGGAAAGGCTTG -3'

Sequencing Primer
(F):5'- ACGAGGTGTGATAGAGATGGACTTTG -3'
(R):5'- CATCTAGGAAAGGCTTGGGGTCC -3'

Posted On

2016-07-06