Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Masp1'

601131

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 #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23476318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 398 (I398L)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably benign
Transcript: ENSMUST00000089883
AA Change: I398L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: I398L

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: I398L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230040

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,677,304	Y93*	probably null	Het
Adam34	T	C	8: 43,652,008	E200G	probably benign	Het
Ankfy1	C	T	11: 72,754,455	Q787*	probably null	Het
BC003331	T	C	1: 150,392,908		probably benign	Het
Birc6	T	A	17: 74,548,820	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,985,420		probably null	Het
Cabp5	T	A	7: 13,398,338	F11I	possibly damaging	Het
Casc1	T	G	6: 145,194,586	D163A	probably benign	Het
Ccdc88a	T	C	11: 29,485,964	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,849,086	V1087A	probably benign	Het
Cct3	C	T	3: 88,321,135	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,723,733	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,256,918	E487G	probably damaging	Het
Chd5	A	G	4: 152,358,575	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,793,308	H286L	possibly damaging	Het
Efr3a	G	T	15: 65,787,173		probably benign	Het
Fam208b	T	C	13: 3,575,714	K1412R	possibly damaging	Het
Fastkd2	T	A	1: 63,731,692	I69N	possibly damaging	Het
Flg2	T	C	3: 93,200,241	I11T	possibly damaging	Het
Folr2	T	C	7: 101,840,895	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786	F360S	probably damaging	Het
Galr2	T	C	11: 116,283,120	V192A	probably benign	Het
Gas6	A	T	8: 13,466,809	I563N	probably damaging	Het
Gbe1	T	C	16: 70,527,197	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,731,371	H423Y	probably damaging	Het
Gm14548	C	A	7: 3,894,205	C544F	probably damaging	Het
Gm6902	T	C	7: 23,273,818	T95A	probably benign	Het
Gpr155	G	T	2: 73,381,952	A109D	probably damaging	Het
Hsdl1	T	C	8: 119,567,972	D5G	probably damaging	Het
Hyal1	C	T	9: 107,578,429	P313S	probably damaging	Het
Igfn1	G	A	1: 135,974,789	T390M	probably damaging	Het
Irx1	C	A	13: 71,959,798	R255L	probably benign	Het
Itga2	T	A	13: 114,866,179	T592S	probably benign	Het
Kit	C	A	5: 75,609,322	S131R	probably benign	Het
Map1b	T	C	13: 99,431,882	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,389,151	E112K	probably benign	Het
Marveld3	T	C	8: 109,954,634	I210V	probably damaging	Het
Mmrn1	T	C	6: 60,976,325	I530T	probably benign	Het
Mtss1l	A	G	8: 110,726,201	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,160,465	S600R	probably benign	Het
Myo5a	A	G	9: 75,169,010	I836V	probably benign	Het
Naaladl1	A	G	19: 6,109,664	D375G	probably damaging	Het
Napepld	T	A	5: 21,683,265	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,312,007	I719S	possibly damaging	Het
Nes	T	A	3: 87,975,616	M394K	probably benign	Het
Nlrc5	A	T	8: 94,505,144	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 107,192,575	C822*	probably null	Het
Noa1	A	C	5: 77,309,224	L278R	probably damaging	Het
Nop16	A	G	13: 54,590,076		probably benign	Het
Olfr1448	A	G	19: 12,919,865	V148A	probably benign	Het
Olfr746	A	T	14: 50,653,993	Y252F	probably benign	Het
Osbpl10	C	T	9: 115,061,894	H117Y	probably benign	Het
Oxct1	A	T	15: 4,047,576	E130D	probably benign	Het
Padi2	A	G	4: 140,949,264	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,145,664	V566M	probably benign	Het
Pdcd11	G	A	19: 47,098,220	E222K	possibly damaging	Het
Plekha2	A	G	8: 25,088,340		probably null	Het
Pogz	T	C	3: 94,870,107	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,188,086	I145V	probably benign	Het
Prkcd	A	G	14: 30,598,450		probably null	Het
Ptprk	T	A	10: 28,592,857	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,792,622	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,958,939	H116L	probably damaging	Het
Sdk1	A	G	5: 141,937,679	T352A	probably benign	Het
Sept9	T	A	11: 117,359,438	C529*	probably null	Het
Setx	T	A	2: 29,148,651	V1716D	probably benign	Het
Slc19a3	C	T	1: 83,019,441	V349I	probably benign	Het
Slc27a4	C	A	2: 29,805,710	R86S	probably benign	Het
Slc4a8	A	G	15: 100,798,178	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,325,622	R58G	probably damaging	Het
Sphkap	T	A	1: 83,276,300	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,949,946	S261P	unknown	Het
Tab1	A	T	15: 80,158,798	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,957,742	T35S	probably benign	Het
Tigd4	T	A	3: 84,595,003	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,616,708	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,897,311	C894S	unknown	Het
Topaz1	T	A	9: 122,749,185	S387T	probably benign	Het
Tsfm	T	C	10: 127,011,689	R178G	probably benign	Het
Ttll13	T	C	7: 80,253,127	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,625,141	K97N		Het
Ubr4	A	G	4: 139,415,083	E38G		Het
Ugt2b37	T	C	5: 87,254,259	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,765,241	M935I	probably benign	Het
Usp34	T	C	11: 23,412,314	S1606P		Het
Vmn1r195	T	C	13: 22,279,074	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,425,212	M419L	probably benign	Het
Washc2	G	T	6: 116,259,059	A1164S	probably benign	Het
Wdfy3	A	T	5: 101,895,074	M1937K	probably benign	Het
Wdfy3	A	T	5: 101,951,399	L261*	probably null	Het
Wdr64	A	T	1: 175,731,526	Y285F	probably benign	Het
Wtap	A	G	17: 12,980,910	L62P	probably damaging	Het
Zfp94	C	A	7: 24,303,073	V315F	probably benign	Het
Zhx1	A	T	15: 58,048,402		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
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
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'- GATCAAATGATCCGCCTAAGGG -3'
(R):5'- TGGGCAATATGACTTCTCTCTG -3'

Sequencing Primer
(F):5'- GGGGAAAACACTTAGTATCATTTGC -3'
(R):5'- GCAATATGACTTCTCTCTGGAGTTG -3'

Posted On

2019-11-26