Mutagenetix > Incidental Mutations

Incidental Mutation 'R1588:Masp1'

177669

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

039625-MU

Accession Numbers

Genbank: NM_008555; MGI: 88492

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R1588 (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 23494654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 177 (Y177C)

Ref Sequence

ENSEMBL: ENSMUSP00000155343 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably damaging
Transcript: ENSMUST00000089883
AA Change: Y177C

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

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: Y177C

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

noncoding transcript
Transcript: ENSMUST00000229152

Predicted Effect

probably damaging
Transcript: ENSMUST00000229619
AA Change: Y177C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230040
AA Change: Y177C

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,534,072	V869A	probably benign	Het
Ablim1	C	T	19: 57,083,547	M1I	probably null	Het
Adamts13	A	T	2: 26,975,675	I81F	probably benign	Het
Akap11	A	T	14: 78,510,245	N1567K	possibly damaging	Het
Arrdc4	G	A	7: 68,741,736	T261M	possibly damaging	Het
C4b	T	C	17: 34,741,025	I326V	probably benign	Het
Casp8ap2	G	A	4: 32,640,541	A532T	probably benign	Het
Ccdc129	A	G	6: 55,978,503	E1032G	possibly damaging	Het
Ccdc134	A	G	15: 82,135,136	T187A	probably benign	Het
Cdh8	T	C	8: 99,190,407	N359D	probably damaging	Het
Cep97	A	G	16: 55,927,821	L82P	probably damaging	Het
Cfap53	A	T	18: 74,307,373	R404S	probably benign	Het
Chrng	C	A	1: 87,207,507	F179L	probably damaging	Het
Ddi1	A	T	9: 6,265,391	I326K	probably damaging	Het
Decr2	T	C	17: 26,083,028	T243A	possibly damaging	Het
Dip2c	T	C	13: 9,665,864	V1502A	probably damaging	Het
Edem1	T	C	6: 108,841,679	V216A	probably damaging	Het
Fat2	A	C	11: 55,283,404	V2161G	probably damaging	Het
Fbn1	T	C	2: 125,319,114	T2169A	probably benign	Het
Fmn1	T	C	2: 113,365,698	V581A	unknown	Het
Gm13088	G	T	4: 143,655,551	L192M	probably damaging	Het
Hip1r	A	T	5: 123,996,575	D350V	probably damaging	Het
Ift140	G	A	17: 25,087,985	R898H	probably damaging	Het
Il12a	A	G	3: 68,695,563	I159V	probably benign	Het
Kl	A	G	5: 150,982,632	E489G	probably benign	Het
Klhl3	T	C	13: 58,013,898	E461G	probably damaging	Het
Nop58	T	A	1: 59,702,872	Y187N	probably damaging	Het
Npc1l1	A	G	11: 6,217,785	V1002A	probably benign	Het
Ntrk1	A	T	3: 87,780,077	Y683*	probably null	Het
Olfr1053	T	C	2: 86,314,530	Y252C	probably damaging	Het
Olfr1362	C	T	13: 21,611,913	D19N	probably benign	Het
Olfr71	C	T	4: 43,705,923	C215Y	probably damaging	Het
Olfr742	A	G	14: 50,516,127	I308V	probably benign	Het
Osbpl6	T	C	2: 76,579,216	V367A	probably benign	Het
Phip	A	G	9: 82,900,828	W855R	probably damaging	Het
Phlpp1	A	G	1: 106,380,385	S1131G	probably damaging	Het
Pkdrej	A	T	15: 85,817,241	V1498E	probably benign	Het
Prkaa2	T	C	4: 105,051,223	N152D	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,002,559	V732M	probably damaging	Het
Rccd1	C	T	7: 80,320,111	W223*	probably null	Het
Riox2	T	A	16: 59,475,583	S16T	possibly damaging	Het
Scn5a	C	T	9: 119,521,301	V836I	probably damaging	Het
Serpinf1	G	A	11: 75,410,250	R380C	probably damaging	Het
Sf3b1	A	T	1: 54,997,177	N912K	probably benign	Het
Shprh	T	A	10: 11,164,744	C134S	probably damaging	Het
Skint8	T	A	4: 111,928,727	C123*	probably null	Het
Slc16a13	G	T	11: 70,218,595	S360*	probably null	Het
Srr	A	G	11: 74,908,803	I282T	possibly damaging	Het
Trpm1	T	C	7: 64,223,817	F607L	possibly damaging	Het
Ttn	T	C	2: 76,709,526	D34372G	probably benign	Het
Tub	C	T	7: 109,029,681	T401I	probably damaging	Het
Wdhd1	T	C	14: 47,256,236	E9G	probably damaging	Het
Wdyhv1	T	A	15: 58,157,889		probably null	Het
Yipf3	T	A	17: 46,250,861	F198Y	possibly damaging	Het
Zfp955a	C	T	17: 33,241,817	R447K	probably benign	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
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
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
X0065:Masp1	UTSW	16	23513969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- agccgtctctccagtcTTGACTT -3'
(R):5'- TGGTGAGCCAAGCTCTCCAAGAA -3'

Sequencing Primer
(F):5'- tctccagtcTTGACTTATTTTAAGGG -3'
(R):5'- gcctgacttctctgtgttctg -3'

Posted On

2014-04-24