Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:Masp1'

617739

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: 0.177) question?

Stock #

R8026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23484406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 324 (Y324C)

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: Y324C

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

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: Y324C

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: Y324C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230040
AA Change: Y324C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (66/67)

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
Abcb8	T	C	5: 24,406,725	V513A	probably damaging	Het
Acsf2	C	T	11: 94,562,888	V416M	probably damaging	Het
Adrm1	G	A	2: 180,175,209	A225T	unknown	Het
Aldh9a1	T	C	1: 167,352,667		probably null	Het
Apbb2	T	C	5: 66,451,644	D220G	probably benign	Het
B230118H07Rik	A	T	2: 101,570,644		probably benign	Het
Bace2	T	C	16: 97,436,852	V501A	probably benign	Het
Camsap1	T	C	2: 25,938,202	N1170S	probably benign	Het
Casr	A	G	16: 36,495,617	V697A	probably damaging	Het
Clcn1	T	C	6: 42,307,661		probably null	Het
Cobl	T	C	11: 12,253,459	K1081R	probably benign	Het
Ctr9	T	A	7: 111,033,892	L116I	probably damaging	Het
Dennd4a	T	C	9: 64,873,030	F616S	probably damaging	Het
Dynlt1a	C	T	17: 6,311,814	G30S	possibly damaging	Het
Eif1	T	C	11: 100,320,448	S23P	possibly damaging	Het
Eml6	A	C	11: 29,749,973	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,474,275	I139T	probably benign	Het
Fstl4	A	G	11: 53,068,669	E179G	probably damaging	Het
Fuom	T	C	7: 140,100,154	T95A		Het
Gigyf1	C	T	5: 137,525,478	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,089,746	S66C	probably damaging	Het
Helz2	G	A	2: 181,240,205	T265I	probably benign	Het
Hs6st3	G	T	14: 119,869,556	V459F	probably damaging	Het
Ido2	A	G	8: 24,535,140		probably null	Het
Idua	A	G	5: 108,670,249	I96V	probably benign	Het
Inpp5j	A	G	11: 3,495,171	S494P		Het
Krt19	A	G	11: 100,141,383	V285A	probably damaging	Het
Krt71	T	G	15: 101,738,382	D297A	possibly damaging	Het
L3hypdh	G	A	12: 72,084,949	R70C	probably damaging	Het
Mfap2	A	G	4: 141,013,803	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,595,084		probably null	Het
Mroh7	G	A	4: 106,721,437	P15S	probably benign	Het
Muc5b	T	A	7: 141,863,636	C3440S	probably benign	Het
Naip5	C	A	13: 100,245,898	S101I	probably damaging	Het
Neb	A	T	2: 52,223,048	Y1066N		Het
Nop56	T	A	2: 130,277,268	C38S	probably benign	Het
Nup214	T	A	2: 32,033,350	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 114,902,268		probably benign	Het
Olfr1242	A	G	2: 89,493,788	F175L	probably damaging	Het
Olfr192	T	C	16: 59,098,368	H208R	unknown	Het
Olfr48	T	C	2: 89,844,929	N15D	probably benign	Het
Olfr66	A	G	7: 103,881,697	V182A	possibly damaging	Het
Olfr68	T	A	7: 103,778,340	I2F	probably benign	Het
Olfr967	T	C	9: 39,750,796	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,576,567	V155I	probably benign	Het
Patz1	A	T	11: 3,307,658	M96L	probably benign	Het
Pcca	A	G	14: 122,638,382	D141G	probably benign	Het
Ptprr	A	G	10: 116,048,170	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,934,712		probably null	Het
Raet1e	A	C	10: 22,181,299	D174A	probably damaging	Het
Rhobtb2	T	G	14: 69,796,765	D337A	probably benign	Het
Sbf2	T	C	7: 110,335,387	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,411,567	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,787,289	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,739,364	R625H	probably benign	Het
Tbxas1	C	T	6: 39,027,896	T359I	probably benign	Het
Trim9	T	A	12: 70,290,387	S309C	probably benign	Het
Ttn	G	A	2: 76,829,139	P12191S	unknown	Het
Unc80	A	G	1: 66,483,304	R222G	possibly damaging	Het
Vmn1r202	A	T	13: 22,502,144	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,717	N251K	probably benign	Het
Vmn2r67	A	T	7: 85,136,716	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,783	F255S	probably benign	Het
Zfp532	T	G	18: 65,625,156	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,617,895	T601A	probably benign	Het
Zfp853	G	T	5: 143,288,525	Q462K	unknown	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
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'- AGAGGTGCCCAGAATGCATC -3'
(R):5'- TTAGAAAGTGACTCACCCCTGC -3'

Sequencing Primer
(F):5'- GGTGCCCAGAATGCATCATTTCTG -3'
(R):5'- AAACTCTTCTTCTAGACCCCAGG -3'

Posted On

2020-01-23