Mutagenetix > Incidental Mutation

Incidental Mutation 'R8475:Masp1'

657243

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R8475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23452531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 656 (V656L)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably damaging
Transcript: ENSMUST00000089883
AA Change: V656L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: V656L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,562,926	T158M	probably benign	Het
4921507P07Rik	A	G	6: 50,589,127	Y123H	probably damaging	Het
Adamts14	T	C	10: 61,202,887	E945G	probably damaging	Het
Adgrl3	T	C	5: 81,724,129	V958A	probably benign	Het
Adh6a	T	C	3: 138,325,218	I156T	probably benign	Het
Akt1	A	G	12: 112,658,429	V201A	possibly damaging	Het
Als2cl	C	G	9: 110,886,416	A182G	possibly damaging	Het
Amn	T	A	12: 111,275,385	L295Q	probably benign	Het
Dbf4	A	G	5: 8,398,664		probably benign	Het
Depdc7	G	A	2: 104,721,969	R498C	probably benign	Het
Eogt	A	T	6: 97,145,366	Y35*	probably null	Het
Epb41l1	T	G	2: 156,522,230	S886R	probably damaging	Het
Fshr	A	T	17: 88,986,028	D407E	probably damaging	Het
Gngt1	C	A	6: 3,994,262	D13E	probably benign	Het
Grxcr1	T	C	5: 68,166,141	L254P	possibly damaging	Het
Itga11	A	G	9: 62,744,045	D290G	probably damaging	Het
Klf16	A	G	10: 80,576,885	S106P	probably benign	Het
Klk5	A	G	7: 43,850,780	D264G	possibly damaging	Het
Lama2	C	T	10: 27,101,373	V1937M	possibly damaging	Het
Lipi	T	A	16: 75,573,974	K118N	probably benign	Het
Manba	G	A	3: 135,511,812	V130I	probably benign	Het
Map2	A	G	1: 66,414,005	S527G	probably damaging	Het
Mrpl10	A	T	11: 97,047,435	N137I	probably benign	Het
Mtfmt	C	A	9: 65,452,187	N381K	probably benign	Het
Myo18b	A	T	5: 112,873,556	Y546*	probably null	Het
Nectin4	C	T	1: 171,384,712	R293*	probably null	Het
Nudt3	A	G	17: 27,580,802	S136P	possibly damaging	Het
Olfr1158	T	C	2: 87,990,192	L27P	probably damaging	Het
Olfr1254	T	C	2: 89,789,242	M37V	probably benign	Het
Olfr292	A	C	7: 86,695,153	R232S	probably benign	Het
Olfr357	G	A	2: 36,997,054	M81I	probably damaging	Het
Olfr652	A	G	7: 104,564,859	M213V	probably benign	Het
Oxnad1	A	G	14: 32,101,293		probably null	Het
Parn	A	G	16: 13,607,249		probably null	Het
Pcdha12	T	C	18: 37,021,083	V285A	possibly damaging	Het
Pfkfb2	G	C	1: 130,697,079	Q515E	probably benign	Het
Pjvk	T	C	2: 76,650,557	F40L	probably benign	Het
Pygo2	A	G	3: 89,433,390	Y328C	probably damaging	Het
Rapgef5	A	C	12: 117,718,230	K215Q	probably damaging	Het
Sephs1	T	A	2: 4,889,010		probably null	Het
Slc12a9	C	A	5: 137,315,475	V741L	probably benign	Het
Tbx21	A	T	11: 97,099,982	V290D	possibly damaging	Het
Tep1	C	A	14: 50,841,255	G1514W	probably damaging	Het
Vmn2r16	T	C	5: 109,339,207	M98T	probably benign	Het
Zfr	A	G	15: 12,150,369	N474S	probably benign	Het
Zpbp	T	C	11: 11,415,203	K215E	possibly 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
IGL02718:Masp1	APN	16	23476293	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGACTGACCATACAGCAGGTG -3'
(R):5'- CTGAACCAGCCCTTTCTGAC -3'

Sequencing Primer
(F):5'- ACCATACAGCAGGTGTTGGGC -3'
(R):5'- CTGACCTATAGAGCACAGCTTTGG -3'

Posted On

2021-01-18