Mutagenetix > Incidental Mutation

Incidental Mutation 'R9052:Masp1'

688477

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

MBL associated serine protease 1

Synonyms

Crarf

MMRRC Submission

068878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R9052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23268167-23339565 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 23339350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089883] [ENSMUST00000209422] [ENSMUST00000229619] [ENSMUST00000230040]

AlphaFold

P98064

Predicted Effect

probably benign
Transcript: ENSMUST00000089883

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887

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 benign
Transcript: ENSMUST00000209422

Predicted Effect

probably benign
Transcript: ENSMUST00000229619

Predicted Effect

probably benign
Transcript: ENSMUST00000230040

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,778,031 (GRCm39)	E71G	probably damaging	Het
2610021A01Rik	G	T	7: 41,275,449 (GRCm39)	G384V	probably benign	Het
4931406B18Rik	T	A	7: 43,147,631 (GRCm39)	R247*	probably null	Het
Abca4	G	T	3: 121,940,908 (GRCm39)	V1576F	possibly damaging	Het
Acsl6	A	T	11: 54,232,615 (GRCm39)	T489S	possibly damaging	Het
Adcy8	C	T	15: 64,792,764 (GRCm39)	R64H	probably benign	Het
Atad2b	C	A	12: 5,015,982 (GRCm39)	F569L	probably damaging	Het
Atp2c1	A	T	9: 105,330,032 (GRCm39)	I266N	probably damaging	Het
Atp8a1	A	G	5: 67,936,301 (GRCm39)		probably null	Het
Coch	T	C	12: 51,640,408 (GRCm39)	M1T	probably null	Het
Col5a3	C	A	9: 20,710,733 (GRCm39)	R537L	unknown	Het
Crb1	C	T	1: 139,171,161 (GRCm39)	R743Q	possibly damaging	Het
Crybg2	T	C	4: 133,803,035 (GRCm39)	F889L	probably damaging	Het
Cyp4f15	C	T	17: 32,911,589 (GRCm39)	T157I	probably damaging	Het
D630045J12Rik	G	T	6: 38,154,544 (GRCm39)	Q1212K	probably damaging	Het
Dennd1a	A	G	2: 37,911,463 (GRCm39)	Y175H	probably damaging	Het
Dhcr7	C	A	7: 143,395,060 (GRCm39)	T192K	possibly damaging	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dmpk	G	A	7: 18,821,614 (GRCm39)	V291M	probably damaging	Het
Dnajc6	T	C	4: 101,496,617 (GRCm39)	V928A	probably damaging	Het
Dst	A	G	1: 34,206,045 (GRCm39)	Y859C	probably damaging	Het
Dst	C	T	1: 34,236,411 (GRCm39)	Q1592*	probably null	Het
Gm10226	T	A	17: 21,910,959 (GRCm39)	C65S	possibly damaging	Het
Helz2	T	C	2: 180,881,968 (GRCm39)	K275R	possibly damaging	Het
Hltf	A	G	3: 20,152,246 (GRCm39)	T581A	probably damaging	Het
Ighv1-24	C	T	12: 114,736,555 (GRCm39)	C115Y	probably damaging	Het
Il18	C	T	9: 50,489,090 (GRCm39)	L40F	possibly damaging	Het
Isg20	A	G	7: 78,566,390 (GRCm39)	D113G	probably damaging	Het
Itgb3	A	T	11: 104,524,413 (GRCm39)	D183V	probably damaging	Het
Kif12	C	T	4: 63,090,068 (GRCm39)	V28M	probably damaging	Het
Manbal	T	C	2: 157,221,107 (GRCm39)	L28P	probably damaging	Het
Mfap5	A	G	6: 122,501,463 (GRCm39)	T72A	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mrps5	G	A	2: 127,433,876 (GRCm39)		probably benign	Het
Ms4a1	T	A	19: 11,233,954 (GRCm39)	T101S	probably benign	Het
Myo3b	A	G	2: 70,062,747 (GRCm39)	M344V	probably benign	Het
Naaladl1	T	G	19: 6,158,716 (GRCm39)	F283V	probably benign	Het
Nacc1	A	C	8: 85,403,377 (GRCm39)	V166G	probably damaging	Het
Nwd2	A	T	5: 63,961,773 (GRCm39)	R452S	probably damaging	Het
Or1n1b	T	C	2: 36,780,105 (GRCm39)	T252A	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5k16	T	C	16: 58,736,561 (GRCm39)	T148A	probably benign	Het
Or6c214	C	G	10: 129,591,094 (GRCm39)	C75S	possibly damaging	Het
Pik3cg	T	C	12: 32,245,708 (GRCm39)	I847V	possibly damaging	Het
Plcz1	G	A	6: 139,968,905 (GRCm39)	H178Y	probably damaging	Het
Prkdc	T	A	16: 15,508,160 (GRCm39)	M937K	probably benign	Het
Prr14l	A	T	5: 32,987,478 (GRCm39)	C672*	probably null	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Rbm27	T	C	18: 42,465,893 (GRCm39)	S860P	probably damaging	Het
Rfxap	G	A	3: 54,715,155 (GRCm39)		probably benign	Het
Rhbdf2	A	C	11: 116,494,758 (GRCm39)	L306R	probably benign	Het
Rigi	C	A	4: 40,208,459 (GRCm39)	V826L	probably benign	Het
Rnf123	A	T	9: 107,936,930 (GRCm39)	V875E	probably damaging	Het
Sh3bp2	A	G	5: 34,709,164 (GRCm39)		probably benign	Het
Slc7a9	A	G	7: 35,153,017 (GRCm39)	K145R	probably benign	Het
Slco5a1	A	T	1: 13,060,397 (GRCm39)	V108E	possibly damaging	Het
Stat2	A	G	10: 128,117,538 (GRCm39)	E352G	probably damaging	Het
Synj1	A	T	16: 90,735,728 (GRCm39)	S1408R	probably benign	Het
Tent5c	A	T	3: 100,380,618 (GRCm39)	I46K	probably benign	Het
Tgs1	T	A	4: 3,585,166 (GRCm39)	M102K	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Ttc23	C	A	7: 67,342,687 (GRCm39)	C268*	probably null	Het
Uhrf2	T	C	19: 30,070,236 (GRCm39)	F795S	probably damaging	Het
Urgcp	A	G	11: 5,673,153 (GRCm39)	W41R	probably damaging	Het
Uso1	G	T	5: 92,328,422 (GRCm39)	V340F	probably damaging	Het
Vta1	A	C	10: 14,551,692 (GRCm39)	I169R	probably benign	Het
Zfp317	A	G	9: 19,556,568 (GRCm39)	I59V	probably benign	Het
Zfp799	G	A	17: 33,039,786 (GRCm39)	T160I	probably benign	Het
Zfp955a	G	T	17: 33,461,279 (GRCm39)	H284Q	possibly damaging	Het

Other mutations in Masp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Masp1	APN	16	23,276,841 (GRCm39)	missense	possibly damaging	0.93
IGL00428:Masp1	APN	16	23,295,062 (GRCm39)	missense	probably damaging	1.00
IGL00432:Masp1	APN	16	23,332,601 (GRCm39)	missense	probably damaging	1.00
IGL02598:Masp1	APN	16	23,278,381 (GRCm39)	missense	probably benign
IGL02718:Masp1	APN	16	23,295,043 (GRCm39)	missense	probably damaging	1.00
IGL02947:Masp1	APN	16	23,313,476 (GRCm39)	missense	probably damaging	0.99
A4554:Masp1	UTSW	16	23,273,690 (GRCm39)	splice site	probably null
PIT1430001:Masp1	UTSW	16	23,332,694 (GRCm39)	missense	probably damaging	1.00
R0103:Masp1	UTSW	16	23,276,768 (GRCm39)	missense	probably damaging	1.00
R0505:Masp1	UTSW	16	23,276,888 (GRCm39)	missense	probably benign
R0630:Masp1	UTSW	16	23,271,169 (GRCm39)	missense	probably benign	0.01
R1146:Masp1	UTSW	16	23,310,865 (GRCm39)	missense	probably damaging	1.00
R1146:Masp1	UTSW	16	23,310,865 (GRCm39)	missense	probably damaging	1.00
R1339:Masp1	UTSW	16	23,271,217 (GRCm39)	missense	probably damaging	1.00
R1521:Masp1	UTSW	16	23,313,387 (GRCm39)	missense	probably damaging	1.00
R1588:Masp1	UTSW	16	23,313,404 (GRCm39)	missense	probably damaging	1.00
R1961:Masp1	UTSW	16	23,271,682 (GRCm39)	missense	probably damaging	1.00
R1986:Masp1	UTSW	16	23,302,211 (GRCm39)	missense	probably benign	0.01
R2080:Masp1	UTSW	16	23,310,709 (GRCm39)	missense	probably damaging	1.00
R2215:Masp1	UTSW	16	23,271,271 (GRCm39)	missense	possibly damaging	0.92
R2216:Masp1	UTSW	16	23,310,805 (GRCm39)	missense	probably benign	0.00
R2443:Masp1	UTSW	16	23,295,062 (GRCm39)	missense	probably damaging	1.00
R4934:Masp1	UTSW	16	23,283,826 (GRCm39)	missense	probably damaging	0.98
R5224:Masp1	UTSW	16	23,313,445 (GRCm39)	missense	probably damaging	1.00
R5340:Masp1	UTSW	16	23,276,858 (GRCm39)	missense	probably damaging	1.00
R5562:Masp1	UTSW	16	23,283,917 (GRCm39)	splice site	probably null
R5663:Masp1	UTSW	16	23,271,688 (GRCm39)	missense	possibly damaging	0.57
R5742:Masp1	UTSW	16	23,273,675 (GRCm39)	missense	probably benign	0.01
R5763:Masp1	UTSW	16	23,314,997 (GRCm39)	missense	probably damaging	1.00
R5898:Masp1	UTSW	16	23,310,677 (GRCm39)	missense	probably damaging	0.99
R6901:Masp1	UTSW	16	23,332,584 (GRCm39)	missense	probably damaging	0.99
R6987:Masp1	UTSW	16	23,332,665 (GRCm39)	missense	probably damaging	1.00
R7069:Masp1	UTSW	16	23,271,205 (GRCm39)	missense	probably benign	0.20
R7356:Masp1	UTSW	16	23,288,993 (GRCm39)	missense	possibly damaging	0.50
R7512:Masp1	UTSW	16	23,288,874 (GRCm39)	missense	probably damaging	1.00
R7539:Masp1	UTSW	16	23,289,128 (GRCm39)	missense	possibly damaging	0.94
R7810:Masp1	UTSW	16	23,295,068 (GRCm39)	missense	probably benign	0.01
R8026:Masp1	UTSW	16	23,303,156 (GRCm39)	missense	probably damaging	1.00
R8391:Masp1	UTSW	16	23,289,128 (GRCm39)	missense	possibly damaging	0.94
R8438:Masp1	UTSW	16	23,289,153 (GRCm39)	missense	probably benign	0.38
R8475:Masp1	UTSW	16	23,271,281 (GRCm39)	missense	probably damaging	0.99
R8870:Masp1	UTSW	16	23,314,882 (GRCm39)	missense	probably damaging	1.00
R9072:Masp1	UTSW	16	23,288,671 (GRCm39)	missense	probably benign	0.07
R9073:Masp1	UTSW	16	23,288,671 (GRCm39)	missense	probably benign	0.07
R9599:Masp1	UTSW	16	23,271,698 (GRCm39)	missense	probably benign	0.16
R9686:Masp1	UTSW	16	23,314,887 (GRCm39)	missense	probably damaging	1.00
X0065:Masp1	UTSW	16	23,332,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGGATTGATGAGACTCC -3'
(R):5'- GATCTTGCAAGGAAACAGTCTGTC -3'

Sequencing Primer
(F):5'- GGATTGATGAGACTCCCCCATC -3'
(R):5'- AGGTCCCTCCGAGTGTACATAAG -3'

Posted On

2021-11-19