Mutagenetix > Incidental Mutation

Incidental Mutation 'R9599:Masp1'

723487

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: 0.233) question?

Stock #

R9599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23452948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 618 (T618S)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably benign
Transcript: ENSMUST00000089883
AA Change: T618S

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: T618S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,506	N1152S	probably benign	Het
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
2310007B03Rik	T	C	1: 93,159,846	E95G	possibly damaging	Het
Abcb6	A	T	1: 75,174,728	Y518N	possibly damaging	Het
Actr2	G	A	11: 20,080,745	P168S	probably damaging	Het
Adam12	A	G	7: 133,964,725	V332A	probably damaging	Het
Adam23	T	C	1: 63,581,200	I805T	probably benign	Het
Adar	A	G	3: 89,747,209	T883A	probably benign	Het
Aldh3a1	A	G	11: 61,217,086	T319A	probably damaging	Het
Apcdd1	T	A	18: 62,950,198		probably null	Het
Arhgef18	C	A	8: 3,432,718	A141E	possibly damaging	Het
Bub3	A	G	7: 131,568,699	T317A	probably benign	Het
Ccdc102a	A	G	8: 94,913,273	L131P	probably damaging	Het
Ccdc60	C	A	5: 116,131,206	D452Y	probably damaging	Het
Ccdc66	T	C	14: 27,497,424	E125G	probably damaging	Het
Ccdc68	A	G	18: 69,960,421	E233G	probably damaging	Het
Cep192	A	G	18: 67,835,454	D973G	probably benign	Het
Cox5b	T	A	1: 36,691,678	M31K	probably benign	Het
Cse1l	A	G	2: 166,941,466	N780S	probably benign	Het
Cyfip1	T	C	7: 55,913,529		probably null	Het
Cyp1a1	C	T	9: 57,700,487	P133S	probably benign	Het
Dcp1a	A	G	14: 30,519,540	M436V	probably benign	Het
Dcst1	G	T	3: 89,357,768	Y258*	probably null	Het
Dhx30	T	C	9: 110,085,450	E993G	possibly damaging	Het
Disc1	A	T	8: 125,087,522	M42L	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Erbb2	A	T	11: 98,427,390	D484V	probably benign	Het
Fam189b	A	G	3: 89,186,792	D304G	possibly damaging	Het
Fxr2	A	G	11: 69,652,643	N657D	probably benign	Het
Gbx2	T	C	1: 89,928,913	T252A	probably damaging	Het
Gdap2	A	T	3: 100,170,948	N76I	probably damaging	Het
Gm20939	A	G	17: 94,877,238	Y438C	probably damaging	Het
Gsdma2	A	G	11: 98,649,633	E126G	possibly damaging	Het
Gsg1	T	G	6: 135,240,100	H246P	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Ighv1-62-1	T	C	12: 115,386,981	Q22R	possibly damaging	Het
Kcng3	A	T	17: 83,587,782	F418L	probably benign	Het
Lin54	C	A	5: 100,450,687	R593L	probably damaging	Het
Lrp1	T	A	10: 127,574,377	N1500I	probably damaging	Het
Lvrn	A	C	18: 46,866,427	S287R	probably benign	Het
Madd	G	A	2: 91,175,681	P390S	probably damaging	Het
Mapk8ip3	C	A	17: 24,899,150	R1281L	probably damaging	Het
Mgat5	A	G	1: 127,320,708	T116A	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrpl39	A	G	16: 84,730,471	F176S	probably damaging	Het
Myt1l	T	C	12: 29,893,442	I953T	unknown	Het
Nedd4l	A	G	18: 65,210,329	H820R	probably damaging	Het
Nxpe3	A	T	16: 55,844,492	V455D	probably damaging	Het
Olfm4	T	C	14: 80,006,307	F105S	probably damaging	Het
Olfr1329	C	T	4: 118,916,654	R271Q	probably benign	Het
Papd4	G	T	13: 93,186,313	Q43K	probably benign	Het
Patz1	A	G	11: 3,290,720	N36S	probably benign	Het
Peg3	T	A	7: 6,711,724	K166N	probably damaging	Het
Pes1	T	A	11: 3,976,118	D302E	probably benign	Het
Plekhh3	G	A	11: 101,164,146	T627M	unknown	Het
Plxnd1	C	T	6: 115,963,313	R1370Q	possibly damaging	Het
Rnf20	T	C	4: 49,638,751	V191A	probably benign	Het
Scn8a	A	T	15: 101,013,291	K864M	probably damaging	Het
Sema3c	T	C	5: 17,714,454		probably null	Het
Slc24a4	C	T	12: 102,131,520	T30I	probably benign	Het
Slc27a2	A	G	2: 126,578,984	D465G	probably damaging	Het
Snrnp48	T	C	13: 38,209,944	M75T	probably benign	Het
Srgap2	A	G	1: 131,344,426	S41P		Het
St3gal5	A	G	6: 72,153,596	T391A	probably benign	Het
Stkld1	T	C	2: 26,953,285	L628P	possibly damaging	Het
Tbc1d1	T	A	5: 64,345,358	M1074K	probably benign	Het
Tpsb2	T	A	17: 25,367,103	Y98*	probably null	Het
Trav6d-3	G	A	14: 52,726,687	D36N	probably benign	Het
Trim16	A	G	11: 62,840,818	Y505C	probably damaging	Het
Ttpal	A	G	2: 163,615,538	D310G	probably benign	Het
Ubox5	A	G	2: 130,599,915	I284T	probably damaging	Het
Vmn2r45	T	A	7: 8,475,458		probably null	Het
Vmn2r67	T	C	7: 85,155,733	D57G	probably damaging	Het
Wdfy4	T	C	14: 33,133,471	T729A		Het
Wdr81	A	T	11: 75,453,523	M306K	probably benign	Het
Zfp62	A	G	11: 49,215,715	D211G	probably damaging	Het
Zfyve16	T	C	13: 92,500,255	K1316E	probably 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
R9073:Masp1	UTSW	16	23469921	missense	probably benign	0.07
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'- GTCAGAAAGGGCTGGTTCAG -3'
(R):5'- GACACGGTGTTTCTATATGCTGTC -3'

Sequencing Primer
(F):5'- GGATGGCAAAAGTTCTATATTCCCCC -3'
(R):5'- AAAGCTGCTTTACCAGGGTC -3'

Posted On

2022-08-09