Mutagenetix > Incidental Mutation

Incidental Mutation 'R2443:Masp1'

249887

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

040401-MU

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R2443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23476312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 400 (Y400N)

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: Y400N

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

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: Y400N

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: Y400N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230040

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,481,349	N239K	probably damaging	Het
Anapc13	C	T	9: 102,634,023	P37S	probably damaging	Het
Asxl3	T	A	18: 22,411,539	D39E	probably benign	Het
Clec4d	G	A	6: 123,268,117	V119M	probably benign	Het
Dlx2	A	G	2: 71,546,005	S130P	probably benign	Het
Dync2li1	C	A	17: 84,647,665	Q251K	probably benign	Het
E330009J07Rik	T	C	6: 40,406,776	D444G	probably damaging	Het
Edem1	A	T	6: 108,851,269	K518N	probably benign	Het
Fbln2	T	C	6: 91,259,711	V736A	probably damaging	Het
Fga	A	G	3: 83,028,541	K25R	probably benign	Het
Hmcn1	C	A	1: 150,599,032	R4701S	probably benign	Het
Ighv8-5	G	A	12: 115,067,820	P33L	probably damaging	Het
Kcnip3	T	A	2: 127,460,063	I194F	probably damaging	Het
Kif26b	A	C	1: 178,915,014	I892L	probably damaging	Het
Krt78	C	T	15: 101,946,598	G926E	probably damaging	Het
Maats1	A	G	16: 38,302,732	Y645H	probably damaging	Het
Map1b	T	C	13: 99,430,411	Y1934C	unknown	Het
Methig1	T	C	15: 100,353,211	M1T	probably null	Het
Mmp19	A	G	10: 128,798,856	E447G	possibly damaging	Het
Ms4a6d	G	A	19: 11,590,193	H115Y	possibly damaging	Het
Myo1e	C	T	9: 70,327,172	S269L	probably benign	Het
Myo7a	G	A	7: 98,095,769	T288I	probably benign	Het
Npy5r	T	A	8: 66,681,290	K284*	probably null	Het
Oas3	C	A	5: 120,777,488	R46L	probably benign	Het
Olfr1157	A	T	2: 87,962,865	V9E	possibly damaging	Het
Pkd1l3	T	A	8: 109,623,815	S431T	probably benign	Het
Pnpla2	T	C	7: 141,458,069	V184A	possibly damaging	Het
Pomt2	C	A	12: 87,133,380	K282N	probably damaging	Het
Psmd12	T	A	11: 107,495,737	M378K	probably damaging	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Strn3	A	T	12: 51,627,835	Y389N	probably damaging	Het
Tdrd1	C	T	19: 56,841,354	A220V	probably null	Het
Tecpr2	T	G	12: 110,896,325	L57R	probably damaging	Het
Tkfc	A	G	19: 10,594,538	L378P	probably damaging	Het
Tmprss2	T	G	16: 97,568,503	D357A	possibly damaging	Het
Tollip	C	T	7: 141,890,823	W64*	probably null	Het
Vcan	A	G	13: 89,704,675	F722S	probably damaging	Het
Vcp	A	T	4: 42,983,385	N558K	probably damaging	Het
Vmn1r232	A	G	17: 20,913,384	I318T	probably damaging	Het
Vmn1r33	A	T	6: 66,611,973	I199K	possibly damaging	Het
Zfp61	A	G	7: 24,291,769	V319A	probably benign	Het
Zfyve28	A	G	5: 34,216,894	V592A	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
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

Predicted Primers

PCR Primer
(F):5'- TCAAATGATCCGCCTAAGGG -3'
(R):5'- GCACCAGTTAAATGGGCAATATG -3'

Sequencing Primer
(F):5'- GGGGAAAACACTTAGTATCATTTGC -3'
(R):5'- AATGGGCAATATGACTTCTCTCTGG -3'

Posted On

2014-11-12