Mutagenetix > Incidental Mutation

Incidental Mutation 'R9686:Masp1'

728872

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?

Probably non essential (E-score: 0.233) question?

Stock #

R9686 (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 G at 23496137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 125 (S125P)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably damaging
Transcript: ENSMUST00000089883
AA Change: S125P

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

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: S125P

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: S125P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230040
AA Change: S125P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,357,041	F1209L	probably benign	Het
Adamts19	A	G	18: 58,838,021	T226A	probably benign	Het
Akap13	A	G	7: 75,586,336	T220A	probably damaging	Het
Ank2	T	A	3: 126,946,901	E1778V	unknown	Het
Aspn	T	C	13: 49,557,353	I158T	probably damaging	Het
Btbd1	A	G	7: 81,805,850	C258R	probably damaging	Het
Btla	A	G	16: 45,250,509	N278S	probably damaging	Het
Cap2	A	G	13: 46,525,450	E12G	probably damaging	Het
Ccdc171	A	G	4: 83,549,682	Y88C	probably damaging	Het
Ceacam3	C	T	7: 17,158,198	L289F		Het
Cenpj	G	A	14: 56,552,591	A667V	probably benign	Het
Clu	G	T	14: 65,975,005	G136C	probably damaging	Het
Col4a4	A	T	1: 82,497,241	F626I	unknown	Het
Csf2ra	A	G	19: 61,225,191	F360S	probably damaging	Het
Cyp27b1	T	A	10: 127,050,316	S289T	probably benign	Het
Dnah17	G	T	11: 118,088,222	H1781Q	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Fap	T	C	2: 62,573,513	K6R	possibly damaging	Het
Fcer1a	A	G	1: 173,225,413	V72A	possibly damaging	Het
Flnc	T	C	6: 29,456,435	S2211P	possibly damaging	Het
Gm20939	A	T	17: 94,877,460	H512L	probably damaging	Het
Gm21964	T	A	8: 110,109,931	W180R	probably damaging	Het
Gng12	T	C	6: 67,017,545	S59P	probably damaging	Het
Grin1	A	C	2: 25,313,510	I163S	probably benign	Het
Haus5	A	G	7: 30,661,973	I74T	probably benign	Het
Hmcn1	G	A	1: 150,737,605	P1357L	probably damaging	Het
Kcnv1	A	G	15: 45,109,104	I461T	probably benign	Het
Kmo	A	G	1: 175,632,220	M1V	probably null	Het
Krt80	G	A	15: 101,364,400	R107C	probably damaging	Het
Macf1	A	G	4: 123,483,698	V1481A	possibly damaging	Het
Mroh2b	C	T	15: 4,945,123	P1195L	probably benign	Het
Neurl3	A	T	1: 36,266,458	W223R	probably benign	Het
Olfr1034	A	T	2: 86,046,991	I170F	probably benign	Het
Olfr172	T	C	16: 58,760,763	K138E	possibly damaging	Het
Olfr63	A	G	17: 33,268,879	T52A	probably benign	Het
Olfr996	T	A	2: 85,579,996	Y252*	probably null	Het
Pcdhb4	A	C	18: 37,309,890	Y751S	probably damaging	Het
Pcnx2	C	A	8: 125,866,027	A733S	probably benign	Het
Pde4a	A	G	9: 21,206,266	E608G	probably benign	Het
Pfdn2	G	A	1: 171,357,809	E98K	unknown	Het
Pikfyve	T	A	1: 65,252,456	V1278D	probably damaging	Het
Ptprb	A	T	10: 116,368,789	T1843S	probably damaging	Het
Rab12	G	T	17: 66,519,518	A66E	probably benign	Het
Ralyl	T	C	3: 13,776,827		probably benign	Het
Rbm47	A	T	5: 66,022,626		probably null	Het
Rev3l	T	A	10: 39,867,388	D3038E	possibly damaging	Het
Rhobtb2	A	G	14: 69,796,556	F407L	probably benign	Het
S100pbp	A	T	4: 129,155,478	D332E	probably damaging	Het
Slc9c1	T	C	16: 45,580,214	V729A	possibly damaging	Het
Slfn5	A	T	11: 82,957,175	E295D	probably benign	Het
Smarcc2	A	G	10: 128,480,906	S518G	probably damaging	Het
Sorbs1	T	C	19: 40,393,510	D29G	probably damaging	Het
Spata13	G	A	14: 60,751,659	E925K	probably damaging	Het
Spen	A	G	4: 141,472,635	S2894P	probably benign	Het
Taar7a	G	A	10: 23,993,411	T24I	probably benign	Het
Taf4b	C	A	18: 14,799,158	T189N	possibly damaging	Het
Ube2o	A	T	11: 116,543,953	C561S	probably benign	Het
Usp34	T	A	11: 23,474,351	I3213N		Het
Vmn1r103	A	G	7: 20,510,428	V36A	possibly damaging	Het
Vmn2r65	G	A	7: 84,940,876	L611F	probably benign	Het
Zfp51	C	T	17: 21,463,609	S162F	probably damaging	Het
Zfp518b	G	A	5: 38,674,114	H183Y	probably damaging	Het
Zfp622	A	G	15: 25,985,055	E169G	probably benign	Het
Zfp703	A	G	8: 26,979,016	D236G	probably damaging	Het
Zfp839	A	T	12: 110,855,498	I249F	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
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
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
X0065:Masp1	UTSW	16	23513969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTGCAGGAAGCCACTGC -3'
(R):5'- AATGCTGCCTCATCTGCTTG -3'

Sequencing Primer
(F):5'- CACTGCAGGCAGAATCCATGG -3'
(R):5'- TCAGTCTTCTTGAAGAACCCGAGAG -3'

Posted On

2022-10-06