Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Masp1'

241117

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

040217-MU

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

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

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23452521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 659 (D659V)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089883
AA Change: D659V

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: D659V

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,363,793	S1899T	probably damaging	Het
Accs	G	T	2: 93,841,898	N208K	probably benign	Het
Actn4	C	A	7: 28,918,753	V22L	possibly damaging	Het
Adam21	A	G	12: 81,560,290	S233P	probably damaging	Het
Agmat	C	T	4: 141,749,588	R102C	probably benign	Het
Akap8l	T	C	17: 32,321,595	E608G	possibly damaging	Het
Arap2	T	C	5: 62,677,176	I788V	probably damaging	Het
Arhgef12	G	T	9: 43,005,871	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,051,021	H255Q	possibly damaging	Het
Baz1a	G	A	12: 54,975,369	R43*	probably null	Het
Bcas3	T	C	11: 85,801,943	S862P	probably damaging	Het
Blm	A	T	7: 80,499,847	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,325,118	V166I	probably benign	Het
Cep120	G	T	18: 53,727,635	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,380,842	G437E	unknown	Het
Cyp2a5	T	C	7: 26,840,475	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,545,267	T242A	probably benign	Het
Dach1	A	G	14: 98,168,481		probably null	Het
Ddx20	A	T	3: 105,680,340		probably benign	Het
Eif4enif1	A	G	11: 3,227,476	S185G	probably damaging	Het
Ep400	A	T	5: 110,693,555		probably benign	Het
Fam117b	T	A	1: 59,969,060	I351K	probably damaging	Het
Fbxo31	T	C	8: 121,566,311	I112V	probably benign	Het
Galntl5	A	T	5: 25,198,478	N149I	probably damaging	Het
Gja8	A	T	3: 96,919,902	F148Y	probably damaging	Het
Gm9774	G	A	3: 92,428,423	A324V	probably damaging	Het
Gpatch1	A	T	7: 35,293,827	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,740,233	T76M	probably damaging	Het
Htr4	T	A	18: 62,413,716	C113*	probably null	Het
Igf1r	T	A	7: 68,165,234	D294E	probably benign	Het
Kdm6b	G	A	11: 69,405,044	P799L	unknown	Het
Lat	A	T	7: 126,367,965	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,643,529	R51C	probably benign	Het
Map3k1	A	G	13: 111,755,788	S978P	probably benign	Het
Mcam	A	T	9: 44,139,953	R415*	probably null	Het
Mtmr10	A	G	7: 64,337,655	T648A	probably benign	Het
Myh2	T	C	11: 67,191,737	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,739,585	E64G	probably damaging	Het
Olfr1240	T	C	2: 89,440,037	M81V	probably benign	Het
Olfr1412	G	A	1: 92,588,986	V219I	probably benign	Het
Olfr503	T	C	7: 108,544,888	L119P	probably damaging	Het
Olfr788	A	T	10: 129,473,420	I243F	probably damaging	Het
Pcdhb8	T	G	18: 37,357,074	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918		probably benign	Het
Pld1	A	T	3: 28,078,393	I577F	probably benign	Het
Plekhm1	A	T	11: 103,376,985	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 20,961,743		probably null	Het
Retreg3	G	T	11: 101,119,633	Y49*	probably null	Het
Rrp36	T	C	17: 46,672,820	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,109,169	A167S	probably damaging	Het
Sema5b	A	G	16: 35,660,215	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,237,839		probably benign	Het
Smox	T	C	2: 131,520,270		probably null	Het
Spats2l	A	T	1: 57,946,416	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,927,834	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602		probably benign	Het
Tet2	T	A	3: 133,486,601	I691F	probably benign	Het
Tnxb	T	C	17: 34,704,140	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,740,509	E26680G	probably damaging	Het
Txlna	T	C	4: 129,639,318	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483		probably null	Het
Ubr3	A	T	2: 69,979,317		probably null	Het
Usp37	A	C	1: 74,444,526	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,424,339	D204G	probably damaging	Het
Vmn1r230	T	C	17: 20,847,422	I291T	probably benign	Het
Zfp229	T	G	17: 21,746,277	V496G	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
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'- GTGACTGACCATACAGCAGG -3'
(R):5'- TGAACCAGCCCTTTCTGACATC -3'

Sequencing Primer
(F):5'- CTGACCATACAGCAGGTGTTG -3'
(R):5'- TAGAGCACAGCTTTGGATCC -3'

Posted On

2014-10-15