Mutagenetix > Incidental Mutation

Incidental Mutation 'R6188:Fcnb'

502294

Institutional Source

Beutler Lab

Gene Symbol

Fcnb

Ensembl Gene

ENSMUSG00000026835

Gene Name

ficolin B

Synonyms

MMRRC Submission

044328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27966491-27974921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27969202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Methionine at position 165 (R165M)

Ref Sequence

ENSEMBL: ENSMUSP00000112625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028179] [ENSMUST00000117486] [ENSMUST00000135472]

AlphaFold

O70497

Predicted Effect

probably benign
Transcript: ENSMUST00000028179
AA Change: R165M

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: R165M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Collagen	39	99	1.1e-11	PFAM
FBG	101	314	1.78e-115	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117486
AA Change: R165M

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112625
Gene: ENSMUSG00000026835
AA Change: R165M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Collagen	39	99	6.7e-12	PFAM
FBG	101	250	1.33e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135472

SMART Domains

Protein: ENSMUSP00000119098
Gene: ENSMUSG00000026835

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Collagen	38	81	5.3e-10	PFAM
internal_repeat_1	86	107	1.19e-5	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to Streptococcus pneumoniae infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,850 (GRCm39)	I88F	possibly damaging	Het
4930407I10Rik	T	C	15: 81,943,471 (GRCm39)	S28P	probably benign	Het
a	A	T	2: 154,889,602 (GRCm39)	N56I	probably damaging	Het
Apoe	C	A	7: 19,432,305 (GRCm39)		probably benign	Het
Aspm	C	A	1: 139,406,977 (GRCm39)	R1955S	possibly damaging	Het
Boc	G	A	16: 44,319,911 (GRCm39)	L358F	possibly damaging	Het
Cadm2	A	T	16: 66,612,195 (GRCm39)		probably null	Het
Ccdc183	T	C	2: 25,499,764 (GRCm39)	E384G	probably benign	Het
Ccl12	A	G	11: 81,993,943 (GRCm39)	T67A	probably damaging	Het
Cep120	T	C	18: 53,857,529 (GRCm39)	D312G	probably benign	Het
Cmya5	A	G	13: 93,229,952 (GRCm39)	V1712A	possibly damaging	Het
Cmya5	A	G	13: 93,233,784 (GRCm39)	S435P	possibly damaging	Het
Dmbt1	A	T	7: 130,699,361 (GRCm39)	N997Y	probably damaging	Het
Dock2	T	A	11: 34,453,396 (GRCm39)	I86F	probably damaging	Het
Duox1	A	G	2: 122,150,275 (GRCm39)	Q168R	probably benign	Het
Epb41l4a	T	A	18: 33,965,718 (GRCm39)	I370L	probably benign	Het
Erc2	T	A	14: 28,039,208 (GRCm39)	D950E	probably damaging	Het
Exoc6b	A	G	6: 84,832,479 (GRCm39)	V405A	probably damaging	Het
F13a1	T	C	13: 37,209,752 (GRCm39)	D71G	probably benign	Het
Fam151a	A	T	4: 106,602,696 (GRCm39)	Y205F	possibly damaging	Het
Fndc3a	C	T	14: 72,827,401 (GRCm39)	V50I	probably damaging	Het
Gm13276	C	T	4: 88,704,096 (GRCm39)	Q51*	probably null	Het
Grik1	T	C	16: 87,852,959 (GRCm39)	T75A	probably benign	Het
Grip2	A	G	6: 91,740,514 (GRCm39)	L1015P	probably damaging	Het
Hnrnpk	A	G	13: 58,541,967 (GRCm39)	F339L	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Kars1	C	T	8: 112,735,113 (GRCm39)		probably null	Het
Kpna7	G	T	5: 144,929,654 (GRCm39)	N390K	probably damaging	Het
Krt36	A	T	11: 99,993,246 (GRCm39)	S410T	probably benign	Het
Lingo4	A	G	3: 94,310,157 (GRCm39)	E365G	probably damaging	Het
Liph	T	C	16: 21,803,018 (GRCm39)	D17G	probably benign	Het
Lmbrd1	C	A	1: 24,750,626 (GRCm39)	N166K	probably benign	Het
Lypd9	T	C	11: 58,337,182 (GRCm39)	E97G	probably benign	Het
Nup155	T	C	15: 8,139,059 (GRCm39)	S44P	probably damaging	Het
Or2m12	A	G	16: 19,105,307 (GRCm39)	M62T	probably damaging	Het
Or4a72	A	T	2: 89,405,538 (GRCm39)	C177*	probably null	Het
Or5a3	A	G	19: 12,399,974 (GRCm39)	I100M	probably benign	Het
Pcdhga6	T	C	18: 37,841,324 (GRCm39)	V348A	probably benign	Het
Phc3	G	A	3: 30,991,198 (GRCm39)	Q295*	probably null	Het
Phyh	A	G	2: 4,932,301 (GRCm39)	E129G	probably damaging	Het
Polb	A	G	8: 23,137,463 (GRCm39)	S96P	probably damaging	Het
Ppp1r9a	A	T	6: 5,158,113 (GRCm39)	K1174*	probably null	Het
Ppp1r9b	C	T	11: 94,882,662 (GRCm39)	R97W	probably damaging	Het
Pttg1ip	T	C	10: 77,418,342 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,447,967 (GRCm39)		probably null	Het
Rgs20	GGAGAGAG	GGAGAG	1: 5,091,106 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,027,963 (GRCm39)	H111R	probably damaging	Het
Rmdn3	A	G	2: 118,969,831 (GRCm39)		probably null	Het
Ror2	T	A	13: 53,265,347 (GRCm39)	T570S	probably damaging	Het
Sel1l3	A	C	5: 53,313,061 (GRCm39)	I542R	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,237 (GRCm39)	F284L	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	G	15: 96,590,397 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,724,784 (GRCm39)	Y132F	probably damaging	Het
Spata31h1	A	G	10: 82,121,091 (GRCm39)	I3973T	probably damaging	Het
Tet2	T	C	3: 133,186,087 (GRCm39)	S1117G	probably benign	Het
Trav15-1-dv6-1	C	T	14: 53,797,414 (GRCm39)	A21V	probably damaging	Het
Tsr3	G	T	17: 25,460,835 (GRCm39)	D234Y	probably null	Het
Vmn1r220	A	T	13: 23,368,084 (GRCm39)	L204H	probably damaging	Het
Vmn1r3	A	T	4: 3,185,017 (GRCm39)	S97T	probably damaging	Het
Zfp599	A	G	9: 22,161,286 (GRCm39)	F293S	probably damaging	Het
Zfp983	A	G	17: 21,877,935 (GRCm39)	Y46C	probably damaging	Het

Other mutations in Fcnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Fcnb	APN	2	27,966,813 (GRCm39)	missense	probably benign	0.04
IGL02130:Fcnb	APN	2	27,974,801 (GRCm39)	critical splice donor site	probably null
IGL02348:Fcnb	APN	2	27,974,842 (GRCm39)	missense	possibly damaging	0.88
IGL02504:Fcnb	APN	2	27,966,606 (GRCm39)	missense	probably damaging	1.00
IGL03118:Fcnb	APN	2	27,966,630 (GRCm39)	missense	probably benign	0.06
IGL03179:Fcnb	APN	2	27,966,646 (GRCm39)	missense	possibly damaging	0.93
R0217:Fcnb	UTSW	2	27,969,689 (GRCm39)	missense	probably benign	0.02
R0899:Fcnb	UTSW	2	27,966,791 (GRCm39)	missense	probably damaging	1.00
R3901:Fcnb	UTSW	2	27,969,208 (GRCm39)	missense	probably damaging	1.00
R5845:Fcnb	UTSW	2	27,969,633 (GRCm39)	critical splice donor site	probably null
R5911:Fcnb	UTSW	2	27,966,701 (GRCm39)	missense	probably damaging	1.00
R6065:Fcnb	UTSW	2	27,969,922 (GRCm39)	missense	probably damaging	1.00
R6488:Fcnb	UTSW	2	27,968,301 (GRCm39)	missense	probably damaging	1.00
R8058:Fcnb	UTSW	2	27,969,707 (GRCm39)	missense	probably damaging	1.00
R8194:Fcnb	UTSW	2	27,968,330 (GRCm39)	missense	possibly damaging	0.65
R8195:Fcnb	UTSW	2	27,968,330 (GRCm39)	missense	possibly damaging	0.65
R8196:Fcnb	UTSW	2	27,968,330 (GRCm39)	missense	possibly damaging	0.65
R8198:Fcnb	UTSW	2	27,968,330 (GRCm39)	missense	possibly damaging	0.65
R8199:Fcnb	UTSW	2	27,968,330 (GRCm39)	missense	possibly damaging	0.65
R8678:Fcnb	UTSW	2	27,968,361 (GRCm39)	missense	possibly damaging	0.61
R9224:Fcnb	UTSW	2	27,969,160 (GRCm39)	missense	probably damaging	1.00
R9261:Fcnb	UTSW	2	27,969,636 (GRCm39)	missense	probably damaging	0.99
X0024:Fcnb	UTSW	2	27,966,703 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTAGAGGAGGCCCTTATCCCC -3'
(R):5'- ACCTGTTTATGGCACTAGGTTC -3'

Sequencing Primer
(F):5'- TGACTTTCACCCAGCAGAAGG -3'
(R):5'- ATGGCACTAGGTTCCCAGTC -3'

Posted On

2018-02-27