Mutagenetix > Incidental Mutation

Incidental Mutation 'R5742:Masp1'

445636

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

043352-MU

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R5742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23454925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 588 (M588L)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably benign
Transcript: ENSMUST00000089883
AA Change: M588L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: M588L

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: 98.8%
10x: 97.5%
20x: 95.8%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,165,553	A794T	possibly damaging	Het
Abca9	T	G	11: 110,160,417	E151A	probably damaging	Het
Abcb5	A	G	12: 118,918,257	V579A	probably damaging	Het
Apob	T	A	12: 8,007,191	L1858Q	probably damaging	Het
Cerk	C	T	15: 86,141,572	E223K	probably damaging	Het
Cntnap2	T	A	6: 45,920,926	Y179*	probably null	Het
Ddx60	A	T	8: 61,948,921	Y277F	probably benign	Het
Dlgap1	T	G	17: 70,718,199	V538G	probably benign	Het
Duox2	A	G	2: 122,284,921	I1050T	probably benign	Het
Dusp10	A	G	1: 184,037,656		probably null	Het
Dusp27	A	T	1: 166,099,454	V863E	probably benign	Het
Dync2h1	T	A	9: 7,165,762	I500F	possibly damaging	Het
Erich3	T	A	3: 154,733,323	C398S	probably damaging	Het
Fam213a	T	C	14: 41,002,503	E57G	possibly damaging	Het
Fez1	G	A	9: 36,850,447		probably null	Het
Fkbp3	A	C	12: 65,070,038	H41Q	probably benign	Het
Fras1	C	G	5: 96,768,381	Q3425E	possibly damaging	Het
Fuca1	T	C	4: 135,922,975	V119A	probably damaging	Het
Grhl2	A	G	15: 37,328,372	K414R	probably damaging	Het
Heatr5a	A	T	12: 51,955,552	C200*	probably null	Het
Hmgcs2	A	G	3: 98,297,516	N330S	probably benign	Het
Hspd1	A	G	1: 55,084,607	V118A	probably benign	Het
Jmjd1c	A	G	10: 67,220,333	T511A	probably benign	Het
Kat6b	T	C	14: 21,668,435	S1061P	probably damaging	Het
Kcnh6	T	C	11: 106,009,142	V79A	probably benign	Het
Kel	C	T	6: 41,699,027	G243E	probably damaging	Het
Klc4	C	T	17: 46,642,271	R111Q	probably damaging	Het
Lrp1	T	C	10: 127,548,347	D3641G	probably damaging	Het
Map2k1	A	T	9: 64,193,771	D208E	probably damaging	Het
Mgl2	T	A	11: 70,136,684	N239K	probably benign	Het
Mki67	G	A	7: 135,704,373	T625M	probably benign	Het
Ndufb5	T	C	3: 32,747,781	Y112H	probably damaging	Het
Npr3	A	G	15: 11,883,408	S312P	probably damaging	Het
Nuf2	A	T	1: 169,516,622	I125N	probably damaging	Het
Obox1	G	A	7: 15,555,505	G73D	possibly damaging	Het
Olfr27	T	A	9: 39,144,678	F193I	probably benign	Het
Olfr644	G	T	7: 104,068,205	H275Q	probably damaging	Het
Pcdhb15	T	C	18: 37,474,767	S351P	probably damaging	Het
Phc2	G	T	4: 128,745,868	R121L	probably damaging	Het
Pla2g2a	A	G	4: 138,833,342	K87E	probably benign	Het
Plekhh2	T	A	17: 84,597,980	S1101T	probably damaging	Het
Ppp4r1	T	C	17: 65,837,746	I786T	probably damaging	Het
Ros1	A	T	10: 52,142,138		probably null	Het
Trnt1	T	A	6: 106,778,917	L311*	probably null	Het
Ttc25	G	A	11: 100,545,873	G25R	possibly damaging	Het
Vmn1r47	T	A	6: 90,022,518	L211M	probably damaging	Het
Zfp12	A	G	5: 143,245,190	E424G	probably damaging	Het
Zranb2	T	A	3: 157,540,703	Y17*	probably null	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
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'- TTCAAGTTGAGTTTGGCCCC -3'
(R):5'- TTGAGGTAGATCAACCAAGAAACC -3'

Sequencing Primer
(F):5'- GTTGAGTTTGGCCCCCATCTTTTATC -3'
(R):5'- CAGGTAACCCATCACAGAAGCAATG -3'

Posted On

2016-11-21