Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02718:Masp1'

304859

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

IGL02718

Quality Score

Status

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23476293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 406 (Y406C)

Ref Sequence

ENSEMBL: ENSMUSP00000155665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089883] [ENSMUST00000229619] [ENSMUST00000230040]

AlphaFold

P98064

Predicted Effect

probably damaging
Transcript: ENSMUST00000089883
AA Change: Y406C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: Y406C

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
CUB	23	143	2.96e-36	SMART
EGF_CA	144	187	1.46e-7	SMART
CUB	190	302	1.49e-41	SMART
CCP	306	367	4.41e-12	SMART
CCP	372	437	3.05e-6	SMART
Tryp_SPc	453	696	4.66e-84	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229619
AA Change: Y406C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230040

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	A	G	7: 30,699,904	D41G	probably damaging	Het
2210408I21Rik	T	A	13: 77,174,872	Y7N	probably damaging	Het
4921507P07Rik	G	T	6: 50,584,387	T184K	probably damaging	Het
Atf1	C	A	15: 100,254,219	Q151K	probably damaging	Het
Brdt	T	C	5: 107,350,068		probably benign	Het
Cep295	T	C	9: 15,325,753		probably null	Het
Ctnnd2	A	G	15: 31,027,616	S1229G	probably damaging	Het
Dcaf15	T	A	8: 84,098,376	I476L	possibly damaging	Het
Dlec1	A	G	9: 119,137,286	I1108V	probably benign	Het
Dnah9	T	A	11: 65,886,640	H3694L	probably damaging	Het
Dock10	A	T	1: 80,523,818	D1838E	probably benign	Het
Dusp12	A	T	1: 170,880,657	Y164N	probably damaging	Het
Ephx1	A	G	1: 180,999,786	F101L	probably damaging	Het
Fbn1	C	A	2: 125,369,886	C864F	probably damaging	Het
Fbxw24	T	C	9: 109,624,790	E96G	possibly damaging	Het
Glt1d1	C	A	5: 127,650,699	F78L	probably damaging	Het
Gm9602	A	T	14: 4,776,474	R21*	probably null	Het
Grip1	T	A	10: 120,075,515	*713K	probably null	Het
Hecw1	T	C	13: 14,306,935		probably null	Het
Il31ra	G	A	13: 112,530,369	R392*	probably null	Het
L3hypdh	T	G	12: 72,084,856	S101R	probably damaging	Het
Lpar5	T	A	6: 125,082,244	D309E	probably damaging	Het
Mpdz	T	C	4: 81,385,202	I166M	probably damaging	Het
Nbea	A	T	3: 55,632,062	Y2759*	probably null	Het
Ncf1	A	T	5: 134,227,448		probably null	Het
Nek5	T	G	8: 22,097,463	R314S	probably benign	Het
Nifk	A	C	1: 118,327,632	N38T	probably damaging	Het
Obscn	C	T	11: 59,077,858	V2772M	probably damaging	Het
Olfr1367	T	C	13: 21,347,384	L152P	probably damaging	Het
Olfr181	T	C	16: 58,926,096	I158M	possibly damaging	Het
Olfr419	G	T	1: 174,250,707	Y73*	probably null	Het
Olfr584	C	A	7: 103,085,583	L22I	probably benign	Het
Olfr707	A	T	7: 106,891,329	M260K	probably damaging	Het
Olfr979	A	T	9: 40,000,886	Y114N	probably damaging	Het
Pbxip1	A	G	3: 89,448,004	E610G	probably damaging	Het
Pfas	G	T	11: 69,000,145		probably benign	Het
Plk4	T	C	3: 40,815,021	S102P	probably damaging	Het
Ptprz1	C	T	6: 23,001,349	T1146I	possibly damaging	Het
Pum2	T	A	12: 8,733,344	S598T	probably benign	Het
Ric1	T	A	19: 29,533,240	W74R	probably damaging	Het
Riok3	C	A	18: 12,152,996	S427*	probably null	Het
Ros1	A	T	10: 52,118,232	D1317E	probably damaging	Het
Sfmbt2	A	G	2: 10,402,031	D47G	possibly damaging	Het
Slc12a1	C	T	2: 125,161,079	R177*	probably null	Het
Snai3	C	A	8: 122,456,122		probably null	Het
Snx19	A	G	9: 30,432,260	N572S	possibly damaging	Het
Soat1	A	T	1: 156,441,429	S151T	probably benign	Het
Stbd1	A	G	5: 92,603,218	E37G	possibly damaging	Het
Syt10	A	G	15: 89,814,079	I354T	probably damaging	Het
Trip11	A	C	12: 101,886,025	S593R	probably benign	Het
Ubr1	T	C	2: 120,914,883	E908G	probably damaging	Het
Yy1	T	C	12: 108,815,479	F357L	probably damaging	Het

Other mutations in Masp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Masp1	APN	16	23458091	missense	possibly damaging	0.93
IGL00428:Masp1	APN	16	23476312	missense	probably damaging	1.00
IGL00432:Masp1	APN	16	23513851	missense	probably damaging	1.00
IGL02598:Masp1	APN	16	23459631	missense	probably benign
IGL02947:Masp1	APN	16	23494726	missense	probably damaging	0.99
A4554:Masp1	UTSW	16	23454940	splice site	probably null
PIT1430001:Masp1	UTSW	16	23513944	missense	probably damaging	1.00
R0103:Masp1	UTSW	16	23458018	missense	probably damaging	1.00
R0505:Masp1	UTSW	16	23458138	missense	probably benign
R0630:Masp1	UTSW	16	23452419	missense	probably benign	0.01
R1146:Masp1	UTSW	16	23492115	missense	probably damaging	1.00
R1146:Masp1	UTSW	16	23492115	missense	probably damaging	1.00
R1339:Masp1	UTSW	16	23452467	missense	probably damaging	1.00
R1521:Masp1	UTSW	16	23494637	missense	probably damaging	1.00
R1588:Masp1	UTSW	16	23494654	missense	probably damaging	1.00
R1961:Masp1	UTSW	16	23452932	missense	probably damaging	1.00
R1986:Masp1	UTSW	16	23483461	missense	probably benign	0.01
R2080:Masp1	UTSW	16	23491959	missense	probably damaging	1.00
R2215:Masp1	UTSW	16	23452521	missense	possibly damaging	0.92
R2216:Masp1	UTSW	16	23492055	missense	probably benign	0.00
R2443:Masp1	UTSW	16	23476312	missense	probably damaging	1.00
R4934:Masp1	UTSW	16	23465076	missense	probably damaging	0.98
R5224:Masp1	UTSW	16	23494695	missense	probably damaging	1.00
R5340:Masp1	UTSW	16	23458108	missense	probably damaging	1.00
R5562:Masp1	UTSW	16	23465167	splice site	probably null
R5663:Masp1	UTSW	16	23452938	missense	possibly damaging	0.57
R5742:Masp1	UTSW	16	23454925	missense	probably benign	0.01
R5763:Masp1	UTSW	16	23496247	missense	probably damaging	1.00
R5898:Masp1	UTSW	16	23491927	missense	probably damaging	0.99
R6901:Masp1	UTSW	16	23513834	missense	probably damaging	0.99
R6987:Masp1	UTSW	16	23513915	missense	probably damaging	1.00
R7069:Masp1	UTSW	16	23452455	missense	probably benign	0.20
R7356:Masp1	UTSW	16	23470243	missense	possibly damaging	0.50
R7512:Masp1	UTSW	16	23470124	missense	probably damaging	1.00
R7539:Masp1	UTSW	16	23470378	missense	possibly damaging	0.94
R7810:Masp1	UTSW	16	23476318	missense	probably benign	0.01
R8026:Masp1	UTSW	16	23484406	missense	probably damaging	1.00
R8391:Masp1	UTSW	16	23470378	missense	possibly damaging	0.94
R8438:Masp1	UTSW	16	23470403	missense	probably benign	0.38
R8475:Masp1	UTSW	16	23452531	missense	probably damaging	0.99
R8870:Masp1	UTSW	16	23496132	missense	probably damaging	1.00
R9052:Masp1	UTSW	16	23520600	start gained	probably benign
R9072:Masp1	UTSW	16	23469921	missense	probably benign	0.07
R9073:Masp1	UTSW	16	23469921	missense	probably benign	0.07
R9599:Masp1	UTSW	16	23452948	missense	probably benign	0.16
R9686:Masp1	UTSW	16	23496137	missense	probably damaging	1.00
X0065:Masp1	UTSW	16	23513969	missense	probably damaging	1.00

Posted On

2015-04-16