Mutagenetix > Incidental Mutation

Incidental Mutation 'R7356:Masp1'

570991

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: 0.260) question?

Stock #

R7356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23470243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 602 (N602K)

Ref Sequence

ENSEMBL: ENSMUSP00000155665 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably benign
Transcript: ENSMUST00000089883

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887

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

possibly damaging
Transcript: ENSMUST00000229619
AA Change: N602K

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	T	4: 49,383,507	D15E	probably damaging	Het
Adamts16	G	A	13: 70,836,280	T88I	probably benign	Het
Akap6	A	C	12: 52,911,864	N801H	probably damaging	Het
Ankfn1	G	T	11: 89,434,773	N524K	probably damaging	Het
Ap5s1	A	G	2: 131,212,662	N131S	probably damaging	Het
Astn2	A	T	4: 66,185,266	D303E	unknown	Het
Babam1	T	C	8: 71,399,564	V132A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	3: 95,888,141		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,888,158		probably benign	Het
BC028528	GGTCACTGGTTCTGT	GGTCACTGGTTCTGTAGTCACTGGTTCTGT	3: 95,888,165		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTCCTGTGGTCACTGGT	3: 95,888,175		probably benign	Het
BC028528	CACTGGTT	CACTGGTTCTATGGTGACTGGTT	3: 95,888,183		probably benign	Het
Cnst	C	T	1: 179,606,530	P304S	probably benign	Het
Cog4	A	T	8: 110,849,866		probably null	Het
Cyp2j13	A	T	4: 96,077,418	H17Q	probably benign	Het
Ddx58	A	G	4: 40,226,600	S231P	probably benign	Het
Dock6	G	A	9: 21,809,899	T1662I	probably damaging	Het
Dysf	T	C	6: 84,067,461	F270S	probably damaging	Het
Erbb4	A	G	1: 68,339,355		probably null	Het
Fam120b	A	T	17: 15,407,696	Q550L	probably benign	Het
Fam83b	A	T	9: 76,492,853	F323I	probably benign	Het
Far1	T	A	7: 113,568,142	I478N	possibly damaging	Het
Gdpd5	T	A	7: 99,458,878	I554N	probably damaging	Het
Glrx3	T	C	7: 137,452,724	S79P	probably damaging	Het
Hltf	T	C	3: 20,109,370	I888T	probably damaging	Het
Hpx	A	G	7: 105,591,710	V452A	probably damaging	Het
Itk	T	G	11: 46,367,832	Q81P	possibly damaging	Het
Kdm6b	G	A	11: 69,402,165	Q1262*	probably null	Het
Lpcat2	T	C	8: 92,864,983	V85A	probably benign	Het
Lrrk2	A	T	15: 91,738,744	H1039L	probably benign	Het
Mapk3	T	C	7: 126,760,915		probably null	Het
Myo7a	T	A	7: 98,102,683	Q40L	probably benign	Het
Nek1	A	T	8: 61,120,960	M1081L	probably benign	Het
Nes	T	C	3: 87,977,751	S1106P	possibly damaging	Het
Nkpd1	A	T	7: 19,523,774	I493F	probably damaging	Het
Npsr1	C	G	9: 24,098,261	S21C	probably benign	Het
Olfr1001-ps1	G	A	2: 85,633,438	R3K	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,355	M118K	probably damaging	Het
Olfr738	G	A	14: 50,413,702	V53M	probably damaging	Het
Oog1	G	A	12: 87,606,277		probably null	Het
Osbpl9	G	T	4: 109,068,480	Y340*	probably null	Het
Pcyox1l	A	T	18: 61,707,550	L11Q	probably null	Het
Pdxdc1	G	A	16: 13,860,003	R255C	probably damaging	Het
Pgap1	A	G	1: 54,530,134	S358P	probably benign	Het
Pgm2l1	A	G	7: 100,268,119	Y481C	possibly damaging	Het
Plekhf1	T	C	7: 38,222,121	T8A	possibly damaging	Het
Plg	G	T	17: 12,410,911	G611C	probably damaging	Het
Prf1	A	C	10: 61,303,280	D339A	possibly damaging	Het
Prph	A	G	15: 99,056,926	Y291C	probably damaging	Het
Rasal1	A	G	5: 120,654,825	S48G	possibly damaging	Het
Ripk4	T	A	16: 97,743,149	Q766L	probably damaging	Het
Scaf1	T	C	7: 45,007,784	D557G	unknown	Het
Scaper	A	T	9: 55,892,211	M190K	unknown	Het
Scn8a	A	T	15: 100,957,579	I202F	probably damaging	Het
Siglecf	A	G	7: 43,356,431	I505V	probably benign	Het
Sirpb1c	A	G	3: 15,832,133	S360P	probably benign	Het
Sla2	C	A	2: 156,878,703		probably null	Het
Slc11a1	G	T	1: 74,385,489	V544L	probably benign	Het
Slco1a5	T	A	6: 142,234,732	K648I	probably benign	Het
Sorcs1	T	A	19: 50,175,157	I1020F	possibly damaging	Het
Spen	C	A	4: 141,471,924	E3131*	probably null	Het
Sult2a7	A	T	7: 14,477,106	W162R	probably damaging	Het
Sult3a1	G	A	10: 33,866,583	E69K	probably benign	Het
Tcof1	G	T	18: 60,818,094	D1119E	unknown	Het
Tom1l2	A	T	11: 60,249,027	I272K	probably damaging	Het
Tspan5	C	T	3: 138,742,432		probably benign	Het
Ttn	A	G	2: 76,867,900	L186P		Het
Uap1l1	T	C	2: 25,361,684	E496G	possibly damaging	Het
Ube2v1	A	T	2: 167,609,195	I117N	possibly damaging	Het
Usp42	A	G	5: 143,717,087	V593A	possibly damaging	Het
Virma	T	A	4: 11,513,595	I483N	probably damaging	Het
Vwde	T	A	6: 13,192,642	I421F	probably damaging	Het
Zfp345	G	A	2: 150,472,289	H443Y	probably damaging	Het
Zfp760	A	G	17: 21,722,620	T259A	probably benign	Het
Zfp941	T	C	7: 140,812,115	I444V	possibly damaging	Het
Zfyve9	A	C	4: 108,719,015	S290A	probably benign	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
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'- CTTGCCACCCTCATAGTAGC -3'
(R):5'- TGTTCGGGACAAATCAGGAGC -3'

Sequencing Primer
(F):5'- CCAGCACAGAACATGTTCTCTGTG -3'
(R):5'- TCAATAGCTCTGCTGCCCGAG -3'

Posted On

2019-09-13