Mutagenetix > Incidental Mutations

Incidental Mutation 'R1808:Fcgbp'

203597

Institutional Source

Beutler Lab

Gene Symbol

Fcgbp

Ensembl Gene

ENSMUSG00000047730

Gene Name

Fc fragment of IgG binding protein

Synonyms

A430096B05Rik

MMRRC Submission

039837-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28071236-28120862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28085090 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 192 (C192S)

Ref Sequence

ENSEMBL: ENSMUSP00000075945 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076648
AA Change: C192S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075945
Gene: ENSMUSG00000047730
AA Change: C192S

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: C192S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114271
Gene: ENSMUSG00000047730
AA Change: C192S

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: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,184,881	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,320,181		probably null	Het
A2ml1	A	C	6: 128,543,299	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,544,714	L236V	probably benign	Het
Arf3	T	C	15: 98,741,073	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,050	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,453,401	F382S	probably damaging	Het
Bud13	T	A	9: 46,288,407	F355L	probably benign	Het
C2	G	A	17: 34,864,532	P349S	probably damaging	Het
Cbl	C	A	9: 44,164,229	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,138,085	L51Q	probably damaging	Het
Ccdc34	T	A	2: 110,044,256	M320K	probably benign	Het
Cntln	A	G	4: 85,096,763	E1097G	probably damaging	Het
Ctsc	A	C	7: 88,299,542	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,856,534	P163L	probably benign	Het
Dcxr	A	T	11: 120,725,612		probably null	Het
Dgki	T	C	6: 37,149,574	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,684,186	L933P	probably damaging	Het
Dtna	T	C	18: 23,569,640	L76P	probably damaging	Het
Galnt5	T	A	2: 58,026,125	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143	A1297T	probably benign	Het
Grik4	T	C	9: 42,629,026	N286S	probably benign	Het
Hrc	A	T	7: 45,336,778	E451V	probably damaging	Het
Hrh3	G	A	2: 180,099,784		probably benign	Het
Ints13	A	G	6: 146,554,197	I152T	probably damaging	Het
Irgm1	A	T	11: 48,866,432	V184D	probably damaging	Het
Itga5	C	T	15: 103,350,399	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,655	T73A	probably benign	Het
Kidins220	A	G	12: 25,003,009	T433A	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Kmt2d	T	C	15: 98,866,686	D12G	probably damaging	Het
Mms19	A	G	19: 41,966,259	S74P	probably damaging	Het
Myh1	G	T	11: 67,211,474	E864*	probably null	Het
Nek1	A	G	8: 61,016,230	D107G	probably damaging	Het
Npc1	T	C	18: 12,194,092	N1149D	probably damaging	Het
Olfr127	T	A	17: 37,903,770	S75T	probably damaging	Het
Olfr1280	T	C	2: 111,315,998	V173A	probably benign	Het
Olfr401	C	A	11: 74,121,431	S47R	probably damaging	Het
Olfr507	A	C	7: 108,622,610	K266T	possibly damaging	Het
Osbp	T	C	19: 11,970,778	S150P	probably damaging	Het
Paf1	T	C	7: 28,396,822	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,068,102	V420A	probably benign	Het
Pdss1	G	T	2: 22,906,834	E120*	probably null	Het
Pink1	A	T	4: 138,317,319	V339E	probably damaging	Het
Pkn3	C	T	2: 30,079,651	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,802,427	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,038,963	I31T	probably damaging	Het
Rbms3	T	C	9: 116,822,826	E152G	probably damaging	Het
Rfx1	A	C	8: 84,095,048	Q804H	probably damaging	Het
Rpe	G	T	1: 66,715,197	V143L	probably benign	Het
Sap30l	G	T	11: 57,809,945	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,705,924	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,104,856	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,219,027		probably null	Het
Snrnp200	G	A	2: 127,219,028		probably null	Het
Spaca3	T	A	11: 80,867,685	V158E	probably damaging	Het
Sprtn	C	A	8: 124,903,031	N354K	probably benign	Het
Stab1	T	A	14: 31,141,144	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,968,667		probably null	Het
Tnc	A	G	4: 63,999,931	S1248P	probably damaging	Het
Tshr	T	C	12: 91,537,316	F343L	probably benign	Het
Ttn	C	A	2: 76,725,354	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,885,839	M68K	probably benign	Het
Ucp2	T	C	7: 100,498,814	V238A	probably damaging	Het
Urgcp	C	A	11: 5,717,242	L365F	probably damaging	Het
Vezt	A	T	10: 93,990,164	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,540,759	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,059	F2158L	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
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
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
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
RF002:Fcgbp	UTSW	7	28089755	missense	probably benign
X0028:Fcgbp	UTSW	7	28104020	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- CTCTCTGCAGATCGACAATCAG -3'
(R):5'- TGTGGACAGAGTTAGCATGC -3'

Sequencing Primer
(F):5'- GCAGATCGACAATCAGCGCTC -3'
(R):5'- ACAGAGACGGTCTCCCTTGTAG -3'

Posted On

2014-06-23