Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Fcnb'

702223

Institutional Source

Beutler Lab

Gene Symbol

Fcnb

Ensembl Gene

ENSMUSG00000026835

Gene Name

ficolin B

Synonyms

MMRRC Submission

068990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28076378-28084885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28079624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 144 (T144A)

Ref Sequence

ENSEMBL: ENSMUSP00000028179 (fasta)

Gene Model

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

AlphaFold

O70497

Predicted Effect

probably damaging
Transcript: ENSMUST00000028179
AA Change: T144A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: T144A

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

probably damaging
Transcript: ENSMUST00000117486
AA Change: T144A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112625
Gene: ENSMUSG00000026835
AA Change: T144A

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: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	A	9: 51,291,698	H52L	probably benign	Het
Adamts7	A	G	9: 90,193,344	E1043G	probably benign	Het
Agps	T	G	2: 75,854,506		probably benign	Het
Ahnak	A	G	19: 9,016,139	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,118,083		probably benign	Het
Clca3a2	G	T	3: 144,819,397	H25N	probably benign	Het
Cubn	C	T	2: 13,278,451	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,620,920	W15R	probably benign	Het
Dzank1	T	C	2: 144,513,424	E117G	probably benign	Het
Eml2	A	G	7: 19,179,818	T187A	probably benign	Het
Eml5	A	G	12: 98,856,028	V747A	probably damaging	Het
Esr1	T	A	10: 4,969,271	S454T	probably damaging	Het
Evc2	A	G	5: 37,380,551	T528A	probably benign	Het
Fbxo5	T	C	10: 5,802,325	N96S	probably damaging	Het
Fgf20	T	A	8: 40,286,910		probably benign	Het
Gcg	T	C	2: 62,476,064		probably benign	Het
Gfm2	T	A	13: 97,162,861	Y363*	probably null	Het
Gm28710	T	C	5: 16,801,549	L88P	possibly damaging	Het
Gm4951	T	A	18: 60,220,748		probably benign	Het
Grwd1	C	T	7: 45,825,957	R387Q	probably benign	Het
Gstt2	C	T	10: 75,833,677	D59N	possibly damaging	Het
Herc1	A	G	9: 66,504,847	N4783S	probably damaging	Het
Hydin	C	A	8: 110,267,415	A27E	unknown	Het
Ikbip	A	G	10: 91,096,387	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,722,974	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,149,424	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,593,421		probably benign	Het
Klhl40	A	G	9: 121,779,936	D389G	probably benign	Het
Ly6g	A	G	15: 75,158,680	T116A	probably damaging	Het
Mast2	A	G	4: 116,308,703	L1276P	probably damaging	Het
Mitf	A	G	6: 98,013,743	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,306,643	Y192*	probably null	Het
Nav1	T	A	1: 135,460,357	E1109D	unknown	Het
Nav2	A	G	7: 49,597,156	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,677,374	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,313,067	V537A	probably damaging	Het
Notum	G	T	11: 120,660,148	T64K		Het
Nudcd2	A	G	11: 40,739,199	N144S	probably damaging	Het
Nup205	A	G	6: 35,199,857	E596G	probably benign	Het
Olfml1	T	A	7: 107,567,800	L12Q	possibly damaging	Het
Olfr1313	T	A	2: 112,072,373	D70V	probably damaging	Het
Olfr524	A	G	7: 140,202,650	V40A	probably benign	Het
Olfr639	C	T	7: 104,012,129	C191Y	probably damaging	Het
Olfr661	T	A	7: 104,688,053	F13I	probably benign	Het
Olfr668	A	T	7: 104,925,098	M222K	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Padi4	T	C	4: 140,752,615	N409S	probably damaging	Het
Pam	T	A	1: 97,975,895	T38S	probably benign	Het
Piezo2	T	C	18: 63,075,797	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,890,431	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,189,429	H180L	probably benign	Het
Pprc1	A	G	19: 46,062,429	T169A	unknown	Het
Prrc2c	A	G	1: 162,678,053	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,832,130	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,336,559	D40G	probably damaging	Het
Rbm19	T	C	5: 120,118,745	F41S	probably damaging	Het
Rbsn	T	C	6: 92,189,816	M616V	probably benign	Het
Ryr1	A	T	7: 29,052,388	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,950,098	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,199,709	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,036,866	S741T	probably damaging	Het
Stk19	T	G	17: 34,832,456	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,192,406	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,737,131	C271S	probably benign	Het
Tmem161a	C	A	8: 70,178,922	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,714,279	V80E	probably damaging	Het
Trpa1	G	A	1: 14,893,241	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,908,230	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,811	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,394,107	E45D	probably benign	Het
Vnn3	A	G	10: 23,865,709	E304G	probably damaging	Het
Zfp541	G	A	7: 16,082,104	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,217,523	K814E	probably benign	Het

Other mutations in Fcnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Fcnb	APN	2	28076801	missense	probably benign	0.04
IGL02130:Fcnb	APN	2	28084789	critical splice donor site	probably null
IGL02348:Fcnb	APN	2	28084830	missense	possibly damaging	0.88
IGL02504:Fcnb	APN	2	28076594	missense	probably damaging	1.00
IGL03118:Fcnb	APN	2	28076618	missense	probably benign	0.06
IGL03179:Fcnb	APN	2	28076634	missense	possibly damaging	0.93
R0217:Fcnb	UTSW	2	28079677	missense	probably benign	0.02
R0899:Fcnb	UTSW	2	28076779	missense	probably damaging	1.00
R3901:Fcnb	UTSW	2	28079196	missense	probably damaging	1.00
R5845:Fcnb	UTSW	2	28079621	critical splice donor site	probably null
R5911:Fcnb	UTSW	2	28076689	missense	probably damaging	1.00
R6065:Fcnb	UTSW	2	28079910	missense	probably damaging	1.00
R6188:Fcnb	UTSW	2	28079190	missense	possibly damaging	0.94
R6488:Fcnb	UTSW	2	28078289	missense	probably damaging	1.00
R8058:Fcnb	UTSW	2	28079695	missense	probably damaging	1.00
R8194:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8195:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8196:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8198:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8199:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8678:Fcnb	UTSW	2	28078349	missense	possibly damaging	0.61
R9224:Fcnb	UTSW	2	28079148	missense	probably damaging	1.00
X0024:Fcnb	UTSW	2	28076691	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGCTCTCTCACACAGGTTACC -3'
(R):5'- GTCCCTGTGTTCACTTCAGG -3'

Sequencing Primer
(F):5'- AGGTTACCTGTCAGCATTTCTG -3'
(R):5'- ACCTTCTCTGAGCATACCTGGG -3'

Posted On

2022-03-25