Mutagenetix > Incidental Mutation

Incidental Mutation 'R5663:Masp1'

444224

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

043306-MU

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

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

Stock #

R5663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23452938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 621 (E621G)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089883
AA Change: E621G

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: E621G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,221	K54E	probably damaging	Het
1700021F07Rik	C	T	2: 173,527,897	P68L	probably damaging	Het
5330417C22Rik	T	C	3: 108,492,083	T64A	probably benign	Het
Adgra3	T	C	5: 49,999,285	N368D	probably benign	Het
Agfg1	T	A	1: 82,893,452	S444R	probably damaging	Het
Arhgap44	A	T	11: 65,024,291	F384I	probably damaging	Het
Atp8b2	T	C	3: 89,941,794	N1078D	probably benign	Het
Bcan	G	A	3: 87,995,613	T286I	probably damaging	Het
Cacna1d	A	G	14: 30,123,340	L624P	probably damaging	Het
Dnah7c	C	A	1: 46,535,148	F994L	probably damaging	Het
Dpp6	A	G	5: 27,049,622	I12V	possibly damaging	Het
Edil3	A	G	13: 89,042,508	I101M	probably damaging	Het
Fam160a1	T	C	3: 85,672,433	T822A	probably benign	Het
Farp2	T	C	1: 93,570,013	V255A	probably damaging	Het
Fzr1	A	G	10: 81,370,526	S137P	probably benign	Het
Gm884	A	G	11: 103,613,123	V497A	probably benign	Het
H2-Eb2	T	C	17: 34,333,408	F76L	possibly damaging	Het
Helb	A	G	10: 120,105,793	I330T	possibly damaging	Het
Il18rap	T	A	1: 40,531,557	C220S	probably damaging	Het
Kdm4c	T	C	4: 74,399,348	V966A	probably damaging	Het
Kdm5b	T	C	1: 134,630,635	V1460A	probably benign	Het
Kif15	T	A	9: 122,991,851		probably null	Het
Mier1	T	A	4: 103,150,542	S285T	probably damaging	Het
Mroh6	A	G	15: 75,888,588	S46P	probably benign	Het
Myo1h	A	T	5: 114,334,094	Q395L	probably damaging	Het
Ndufb5	T	C	3: 32,747,749	I86T	possibly damaging	Het
Nelfb	T	A	2: 25,203,489	E417V	probably benign	Het
Nfkb1	T	G	3: 135,603,851	D494A	possibly damaging	Het
Nid1	G	A	13: 13,472,834	C395Y	probably damaging	Het
Nr4a3	G	T	4: 48,055,931	R319I	probably damaging	Het
Olfr1508	A	T	14: 52,463,595	I138K	probably benign	Het
Olfr523	G	A	7: 140,176,321	C67Y	probably damaging	Het
Olfr695	T	A	7: 106,873,670	T192S	probably benign	Het
Paqr5	A	G	9: 61,968,862	V130A	probably benign	Het
Phlpp2	G	A	8: 109,904,344	V207I	probably benign	Het
Pik3ca	C	T	3: 32,462,779	T1052M	probably damaging	Het
Pikfyve	T	C	1: 65,216,028	Y347H	probably benign	Het
Ptprz1	A	G	6: 23,035,143	H1964R	probably damaging	Het
Rassf7	C	T	7: 141,217,090	T72I	probably damaging	Het
Rfx3	A	G	19: 27,793,617	F603S	probably damaging	Het
Slc27a4	T	A	2: 29,812,370	V477D	probably damaging	Het
Slc9a3	A	C	13: 74,163,712	D593A	probably damaging	Het
Smyd1	A	G	6: 71,239,721	I14T	probably benign	Het
Sox6	T	A	7: 115,550,054	I404L	probably benign	Het
Tas2r121	G	A	6: 132,700,557	H151Y	probably benign	Het
Tgfb1	C	T	7: 25,694,281	T192M	possibly damaging	Het
Ubr4	T	C	4: 139,428,583	Y2240H	possibly damaging	Het
Whrn	T	A	4: 63,418,448	N626Y	probably damaging	Het
Wisp2	G	A	2: 163,825,253	R58Q	probably damaging	Het
Xrra1	T	A	7: 99,886,043	I185N	probably damaging	Het
Zfp94	G	A	7: 24,302,827	R397W	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
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'- GTCAGAAAGGGCTGGTTCAG -3'
(R):5'- CACGGTGTTTCTATATGCTGTC -3'

Sequencing Primer
(F):5'- GGATGGCAAAAGTTCTATATTCCCCC -3'
(R):5'- AAAGCTGCTTTACCAGGGTC -3'

Posted On

2016-11-09