Mutagenetix > Incidental Mutation

Incidental Mutation 'R9073:Masp1'

692910

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?

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

Stock #

R9073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23469921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 710 (S710A)

Ref Sequence

ENSEMBL: ENSMUSP00000155665 (fasta)

Gene Model

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

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: ENSMUST00000229619
AA Change: S710A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,392	Y190*	probably null	Het
Agbl3	T	C	6: 34,799,452	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,523,389	K1040N	probably damaging	Het
Ano3	T	A	2: 110,745,898	T93S	probably benign	Het
Apoc3	T	A	9: 46,233,234	I97F	probably benign	Het
Arid5a	A	G	1: 36,319,545	E401G	probably benign	Het
Atxn3	T	C	12: 101,937,471		probably null	Het
Brca1	C	T	11: 101,502,480		probably null	Het
C1ql3	T	A	2: 13,010,387	N154I	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc110	A	T	8: 45,942,838	M589L	probably benign	Het
Ccnb2	A	T	9: 70,410,813	F226I	possibly damaging	Het
Clasp1	C	A	1: 118,462,463		probably null	Het
Commd8	TTGTCATCT	TT	5: 72,160,984		probably null	Het
Dis3	T	C	14: 99,095,211	T262A	probably benign	Het
Eif4a2	G	A	16: 23,110,653	R234Q	probably benign	Het
Ephx2	G	A	14: 66,086,239	R481*	probably null	Het
Fbxo15	T	C	18: 84,965,520	I331T	possibly damaging	Het
Gfra2	A	G	14: 70,901,495	E121G	possibly damaging	Het
Git1	G	A	11: 77,499,075	A55T	probably benign	Het
Gm12887	G	T	4: 121,622,041		probably null	Het
Hfm1	T	C	5: 106,898,280	I553V	probably benign	Het
Hydin	G	A	8: 110,267,451		probably null	Het
Iqgap3	A	G	3: 88,109,466	N1085S		Het
Kbtbd12	T	C	6: 88,618,440	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,630,994	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 111,071,838	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,811,786	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,699,710	D14G	probably benign	Het
Ly6l	G	A	15: 75,449,736	V62I	possibly damaging	Het
March8	T	C	6: 116,401,923	F273L	probably benign	Het
Mcm10	G	A	2: 5,008,603	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,126,306	R682H	probably damaging	Het
Mink1	C	T	11: 70,608,381	T684I	possibly damaging	Het
Mocos	A	T	18: 24,664,032	Q83L	probably damaging	Het
Nags	T	C	11: 102,147,521	L351P	probably damaging	Het
Nalcn	G	A	14: 123,295,451	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,725,943	D824G	probably benign	Het
Nwd1	A	T	8: 72,695,418	M1031L	probably benign	Het
Olfr1164	T	A	2: 88,093,828	Q36L	probably benign	Het
Olfr1188	A	C	2: 88,560,314	I271L	probably benign	Het
Olfr1286	A	T	2: 111,420,360	I197N	possibly damaging	Het
Olfr1466	A	G	19: 13,341,874	T39A	possibly damaging	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Olfr743	C	T	14: 50,533,754	T114I	probably benign	Het
Pan2	T	C	10: 128,315,181	M807T	probably damaging	Het
Parp8	A	T	13: 116,911,415	I222N	probably damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,531,947	L186P		Het
Ppargc1b	G	A	18: 61,310,659	R494W	probably damaging	Het
Prg4	G	T	1: 150,455,537	P462T	unknown	Het
Ptcd1	T	A	5: 145,154,715	I525L	probably benign	Het
Ptchd4	A	T	17: 42,502,759	Y517F	probably damaging	Het
Pum1	T	C	4: 130,752,861	F693S	probably damaging	Het
Rad51b	T	G	12: 79,297,665		probably benign	Het
Rgs12	A	T	5: 35,020,409		probably benign	Het
Ribc2	A	C	15: 85,137,962	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,496,884		probably null	Het
Sgf29	G	A	7: 126,672,654	V284M	probably damaging	Het
Skap2	C	T	6: 51,879,770		probably null	Het
Smap1	T	A	1: 23,922,073	E28V	probably damaging	Het
Smc3	A	G	19: 53,628,769	N538D	probably benign	Het
Spen	T	C	4: 141,476,391	T1642A	unknown	Het
Spred3	G	A	7: 29,166,530	R115*	probably null	Het
Sugt1	T	A	14: 79,628,853	M304K	possibly damaging	Het
Sval1	T	C	6: 41,951,672	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500	I1574T	probably benign	Het
Ticrr	T	A	7: 79,667,931	D404E	probably benign	Het
Tinag	T	A	9: 76,997,018		probably null	Het
Tpbg	A	T	9: 85,842,871		probably null	Het
Trak1	T	C	9: 121,460,488	L622P	probably damaging	Het
Ttn	C	T	2: 76,755,874	D21838N	probably damaging	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,756,276	A7V	probably benign	Het
Yy1	G	T	12: 108,793,995	G195C	probably benign	Het
Zbtb17	T	A	4: 141,466,365	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,712,234	V668A	probably benign	Het
Zfp819	C	A	7: 43,617,146	T351K	probably damaging	Het
Zfp820	C	A	17: 21,820,050	S99I	possibly 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
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
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'- AGTTGGGGCTATCTCAGGAG -3'
(R):5'- TCGGGCAACTACAGTGTCAC -3'

Sequencing Primer
(F):5'- CTATCTCAGGAGCATGAGTGTGC -3'
(R):5'- CAGTGTCACAGAGAACATGTTC -3'

Posted On

2021-12-30