Mutagenetix > Incidental Mutation

Incidental Mutation 'R1986:Masp1'

220733

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

039998-MU

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R1986 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23483461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 347 (M347L)

Ref Sequence

ENSEMBL: ENSMUSP00000155665 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably benign
Transcript: ENSMUST00000089883
AA Change: M347L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: M347L

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 benign
Transcript: ENSMUST00000229619
AA Change: M347L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000230040
AA Change: M347L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,419,328	S105P	probably damaging	Het
2610507B11Rik	A	T	11: 78,274,612	H1318L	probably damaging	Het
9930111J21Rik2	T	A	11: 49,019,292	K771N	possibly damaging	Het
Abcc2	A	G	19: 43,829,879	E1268G	probably damaging	Het
Adamts4	T	C	1: 171,256,675	F574L	possibly damaging	Het
Adamts9	A	G	6: 92,796,394	V1165A	probably benign	Het
Agap2	A	T	10: 127,083,044	K430*	probably null	Het
Amn	G	T	12: 111,274,997	G232V	probably damaging	Het
Ank3	A	G	10: 69,867,428	E297G	probably damaging	Het
Arhgap45	T	C	10: 80,020,696	L26P	probably damaging	Het
Atp10b	C	A	11: 43,172,768	Q177K	probably benign	Het
Bbs10	A	T	10: 111,299,257	D77V	probably damaging	Het
Bpifa1	T	A	2: 154,144,336	L127Q	probably damaging	Het
Brinp2	T	C	1: 158,246,778	N591S	probably damaging	Het
C2cd2	A	C	16: 97,870,271	V476G	probably damaging	Het
C7	T	A	15: 5,012,012	T471S	possibly damaging	Het
Cacna1b	A	T	2: 24,648,986	Y1488N	probably damaging	Het
Cadps2	A	G	6: 23,323,380	F1001L	probably damaging	Het
Ccdc188	T	C	16: 18,218,843	S216P	probably damaging	Het
Ccdc24	A	G	4: 117,872,016	L88P	probably damaging	Het
Dab1	T	C	4: 104,613,215	I65T	probably damaging	Het
Dock4	A	T	12: 40,730,063	D621V	probably damaging	Het
Drd5	A	T	5: 38,320,113	M150L	probably damaging	Het
Eef2k	T	A	7: 120,873,346	M94K	possibly damaging	Het
Epg5	A	G	18: 77,982,306		probably null	Het
Epsti1	T	C	14: 77,932,233		probably null	Het
Ern2	T	A	7: 122,171,529	D754V	probably benign	Het
Fam129c	T	A	8: 71,603,760	I368N	possibly damaging	Het
Fbxo6	A	G	4: 148,146,095	Y237H	probably damaging	Het
Fbxw24	A	G	9: 109,607,056	S303P	probably damaging	Het
Fpr-rs3	A	T	17: 20,623,841		probably null	Het
Gab1	G	T	8: 80,766,381	T679K	probably damaging	Het
Gbp9	C	A	5: 105,105,724	V42F	probably damaging	Het
Gbp9	A	T	5: 105,105,786	V21E	probably damaging	Het
Gm14085	A	G	2: 122,527,429	T655A	probably benign	Het
Gm20821	A	G	Y: 9,783,927	Q183R	probably benign	Het
Gpatch11	A	T	17: 78,843,837	I226F	probably benign	Het
Hephl1	T	G	9: 15,054,552	E1035A	probably damaging	Het
Hspa4l	T	C	3: 40,760,401	V156A	probably damaging	Het
Ifna13	A	G	4: 88,644,351	V12A	probably benign	Het
Il24	G	A	1: 130,882,531	T196I	probably benign	Het
Irgm2	A	G	11: 58,219,558	D37G	probably benign	Het
Irs1	A	G	1: 82,288,765	S577P	probably damaging	Het
Kif21b	G	A	1: 136,147,546	D166N	probably damaging	Het
Krtap4-16	T	C	11: 99,851,496	Q26R	unknown	Het
Lig1	T	A	7: 13,309,142	Y837*	probably null	Het
Lrrc69	T	C	4: 14,708,669	E225G	possibly damaging	Het
Map3k20	C	T	2: 72,441,294	Q589*	probably null	Het
Mgat3	A	T	15: 80,212,189	I406F	probably benign	Het
Mmp1b	T	G	9: 7,368,577	D425A	probably benign	Het
Mss51	T	C	14: 20,483,191	H404R	probably benign	Het
Myo15b	A	T	11: 115,882,875	H1911L	probably benign	Het
Nedd4l	A	G	18: 65,143,803	D102G	probably damaging	Het
Npc2	T	C	12: 84,760,749	K112E	probably benign	Het
Nuggc	T	A	14: 65,641,921	V694E	probably damaging	Het
Olfm1	T	G	2: 28,214,706	V157G	probably benign	Het
Olfr476	T	C	7: 107,967,670	V91A	probably benign	Het
Olfr63	T	C	17: 33,269,515	S264P	probably benign	Het
Otogl	T	A	10: 107,794,190		probably null	Het
Ovgp1	G	A	3: 105,974,935	C38Y	probably damaging	Het
Pisd	A	T	5: 32,737,328	S344T	probably damaging	Het
Psme4	T	C	11: 30,830,352	V840A	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rims2	T	A	15: 39,345,314	M171K	probably damaging	Het
Rin2	T	A	2: 145,878,940	M731K	probably damaging	Het
Scgb1b19	T	C	7: 33,287,683		probably null	Het
Serpina10	A	G	12: 103,628,255	I235T	possibly damaging	Het
Setbp1	T	A	18: 78,858,544	E636V	probably damaging	Het
Sh3d21	C	T	4: 126,162,497	E101K	probably damaging	Het
Ski	T	G	4: 155,221,691	D225A	probably damaging	Het
Slc29a3	T	C	10: 60,723,814	Y187C	probably damaging	Het
Sort1	T	A	3: 108,345,727	D494E	possibly damaging	Het
Sphkap	A	T	1: 83,277,922	L702Q	probably damaging	Het
Srr	A	G	11: 74,908,719	I285T	probably damaging	Het
Stam2	T	C	2: 52,709,626	T257A	possibly damaging	Het
Suds3	A	T	5: 117,108,352	N112K	probably damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tesk2	T	C	4: 116,751,193	L104P	probably damaging	Het
Tie1	C	T	4: 118,478,963	R702H	probably benign	Het
Tpo	G	T	12: 30,119,466	A90E	probably damaging	Het
Trim30a	T	C	7: 104,411,465	D368G	probably damaging	Het
Ugt2a2	A	T	5: 87,460,579	M633K	possibly damaging	Het
Vars2	A	G	17: 35,660,061	W626R	probably damaging	Het
Vmn2r10	A	T	5: 109,006,254	Y61*	probably null	Het
Vmn2r95	T	C	17: 18,451,543	V514A	probably benign	Het
Vwa5a	T	G	9: 38,737,814		probably benign	Het
Zfp365	A	T	10: 67,909,856	C31S	probably damaging	Het
Zfp397	A	T	18: 23,960,051	I198F	possibly damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp593	T	C	4: 134,244,895	E100G	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
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

Predicted Primers

PCR Primer
(F):5'- GCTACTACATGGTTAGTGATCTCTGTC -3'
(R):5'- TGCCTAGCGTGTGAATGAGG -3'

Sequencing Primer
(F):5'- TGTCTGCCCCTCTCAGAGAG -3'
(R):5'- CCTAGCGTGTGAATGAGGCTAATG -3'

Posted On

2014-08-25