Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02479:Fcna'

295115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fcna

Ensembl Gene

ENSMUSG00000026938

Gene Name

ficolin A

Synonyms

Fcn1, ficolin A

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

25624666-25628030 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25625260 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 237 (Q237L)

Ref Sequence

ENSEMBL: ENSMUSP00000028307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028307] [ENSMUST00000142087]

Predicted Effect

probably benign
Transcript: ENSMUST00000028307
AA Change: Q237L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028307
Gene: ENSMUSG00000026938
AA Change: Q237L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Collagen	48	108	2e-10	PFAM
FBG	121	334	2.18e-110	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028308

SMART Domains

Protein: ENSMUSP00000028308
Gene: ENSMUSG00000026939

Domain	Start	End	E-Value	Type
Pfam:TMEM141	6	94	1.5e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136952

Predicted Effect

probably benign
Transcript: ENSMUST00000142087

SMART Domains

Protein: ENSMUSP00000121862
Gene: ENSMUSG00000026939

Domain	Start	End	E-Value	Type
Pfam:TMEM141	2	97	1e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163217

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal collagen antibody-induced arthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,501,398	Y528C	probably damaging	Het
Adam24	T	A	8: 40,679,532	I13N	probably benign	Het
Arsj	T	C	3: 126,438,939	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,826,176	T31I	possibly damaging	Het
Cask	A	T	X: 13,557,058	D502E	probably damaging	Het
Cenpl	T	A	1: 161,083,067	S195T	probably benign	Het
Clhc1	T	A	11: 29,578,107	I545N	probably damaging	Het
Clrn2	T	C	5: 45,463,912	I216T	probably benign	Het
Csf2rb	C	T	15: 78,341,724	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,790,667	D284G	probably benign	Het
Dgka	T	C	10: 128,730,246	E345G	probably benign	Het
Dync1i2	G	A	2: 71,235,979	V128I	probably damaging	Het
Eno3	T	A	11: 70,660,888		probably benign	Het
Epc2	T	A	2: 49,532,135	I347K	probably benign	Het
F8	A	T	X: 75,288,240	N681K	probably damaging	Het
Fam207a	T	C	10: 77,514,327	S76G	probably damaging	Het
Fancm	T	A	12: 65,106,485	D1238E	probably damaging	Het
Fpr2	A	T	17: 17,892,812	R23S	probably benign	Het
Frmd3	A	G	4: 74,187,515	D466G	probably benign	Het
Gen1	C	A	12: 11,241,935	V618L	probably benign	Het
Gja4	T	C	4: 127,312,424	E182G	probably benign	Het
Gsdmc	T	A	15: 63,777,975	I356F	possibly damaging	Het
Kctd19	T	C	8: 105,384,768	D102G	probably damaging	Het
Lrit2	T	C	14: 37,072,278	L433P	probably damaging	Het
Lrp2	G	A	2: 69,464,801		probably benign	Het
Luc7l3	G	A	11: 94,296,909		probably benign	Het
Map3k5	T	A	10: 20,056,484	L458Q	probably damaging	Het
Mast4	A	G	13: 102,742,037	S1038P	probably damaging	Het
Med12	A	T	X: 101,296,992		probably benign	Het
Mtor	T	A	4: 148,470,584	L888M	probably damaging	Het
Nova1	A	T	12: 46,816,918	I83N	unknown	Het
Obscn	A	G	11: 59,056,227		probably benign	Het
Olfr1309	A	C	2: 111,983,385	S230A	probably benign	Het
Olfr1320	T	C	X: 49,683,865	V121A	probably benign	Het
Olfr1426	T	A	19: 12,087,905	M296L	probably benign	Het
Olfr420	C	A	1: 174,158,954	Y60*	probably null	Het
Pde2a	A	G	7: 101,501,083	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,299,783	K1062*	probably null	Het
Phc1	A	T	6: 122,323,717		probably benign	Het
Pik3c2g	T	A	6: 139,918,004	S764T	probably benign	Het
Pmp2	T	G	3: 10,182,202	R89S	probably benign	Het
Prdm2	A	G	4: 143,134,929	L597P	probably damaging	Het
Rfx6	T	A	10: 51,678,328	D88E	probably benign	Het
Rgs9	T	C	11: 109,225,652	S442G	possibly damaging	Het
Ror2	C	T	13: 53,131,932	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,978,026	A986E	possibly damaging	Het
Slc5a5	T	A	8: 70,888,911	M325L	possibly damaging	Het
Sppl2c	G	A	11: 104,186,937	V188I	probably benign	Het
Srrm3	G	T	5: 135,835,249	C67F	probably damaging	Het
Stk31	A	G	6: 49,421,688	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Trav8d-1	T	C	14: 52,778,800	S48P	probably benign	Het
Vrk1	A	T	12: 106,051,002	Q95L	probably benign	Het
Wdr25	C	A	12: 108,898,601	T224K	probably benign	Het
Wdr37	A	T	13: 8,842,784	H224Q	probably damaging	Het
Zhx1	C	T	15: 58,054,371	E160K	probably damaging	Het

Other mutations in Fcna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01945:Fcna	APN	2	25627835	start codon destroyed	probably null	0.53
IGL02488:Fcna	APN	2	25625211	critical splice donor site	probably null
IGL02984:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL02988:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL02991:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL03014:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL03046:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL03048:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL03052:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL03055:Fcna	UTSW	2	25630681	unclassified	probably benign
IGL03138:Fcna	UTSW	2	25630681	unclassified	probably benign
R0318:Fcna	UTSW	2	25625059	missense	probably benign
R0455:Fcna	UTSW	2	25625508	missense	probably damaging	1.00
R2212:Fcna	UTSW	2	25627493	missense	probably damaging	1.00
R3413:Fcna	UTSW	2	25627493	missense	probably damaging	1.00
R3414:Fcna	UTSW	2	25627493	missense	probably damaging	1.00
R3854:Fcna	UTSW	2	25627772	missense	possibly damaging	0.76
R4007:Fcna	UTSW	2	25626006	splice site	probably null
R4448:Fcna	UTSW	2	25625476	missense	probably damaging	1.00
R4782:Fcna	UTSW	2	25625326	missense	probably damaging	1.00
R4831:Fcna	UTSW	2	25625341	missense	probably benign	0.11
R7255:Fcna	UTSW	2	25626028	missense	probably damaging	0.99
R7920:Fcna	UTSW	2	25626286	missense	probably benign	0.04
R8386:Fcna	UTSW	2	25626015	nonsense	probably null
R8417:Fcna	UTSW	2	25624851	missense	probably damaging	1.00

Posted On

2015-04-16