Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Masp1'

34507

Institutional Source

Beutler Lab

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

MMRRC Submission

038389-MU

Accession Numbers

Genbank: NM_008555; MGI: 88492

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R0103 (G1)

Quality Score

132

Status

Validated (trace)

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23458018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 579 (P579L)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably damaging
Transcript: ENSMUST00000089883
AA Change: P579L

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

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: P579L

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

Meta Mutation Damage Score

0.2604

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951	R443S	probably damaging	Het
Anapc1	T	C	2: 128,680,452		probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721		probably benign	Het
Asah2	G	T	19: 32,018,977	H374N	probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
Ccdc106	C	A	7: 5,057,545	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272	Y2N	probably damaging	Het
Ctns	A	C	11: 73,185,311	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915	E301A	probably benign	Het
Cyp2b13	A	T	7: 26,088,710	K421M	probably damaging	Het
Cyp4f40	G	T	17: 32,676,308	C468F	probably damaging	Het
Cyp4f40	C	A	17: 32,676,309	C468*	probably null	Het
Dcun1d5	G	A	9: 7,188,788	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,812,446	Y860C	probably benign	Het
Dgkz	T	C	2: 91,934,205	T1028A	probably benign	Het
Dhx58	T	C	11: 100,695,270	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538	N627K	probably benign	Het
Gm20388	A	G	8: 122,269,733		probably benign	Het
Gnptab	A	G	10: 88,429,519	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,975,644	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,557,877	M173L	probably benign	Het
Iba57	C	T	11: 59,163,613	A27T	probably benign	Het
Itga1	T	C	13: 115,016,254	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916	I155F	possibly damaging	Het
Krt84	T	C	15: 101,530,236	E272G	probably damaging	Het
Lrp2	C	A	2: 69,477,040	V2892L	probably benign	Het
Ltb	A	G	17: 35,195,040		probably benign	Het
Mtor	T	A	4: 148,533,902	M1724K	probably benign	Het
Myo3a	T	G	2: 22,544,322		probably benign	Het
Myo9b	C	T	8: 71,323,849		probably benign	Het
Ncor1	G	T	11: 62,343,045	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242	C53*	probably null	Het
Obscn	G	T	11: 59,062,696	Y4044*	probably null	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,210,425	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,929,097		probably benign	Het
Phxr4	T	C	9: 13,431,791		probably benign	Het
Pkhd1	T	A	1: 20,523,359	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,161,769	Y968H	possibly damaging	Het
Prpf39	T	C	12: 65,055,283	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717	N455S	probably damaging	Het
Ptch2	C	A	4: 117,109,425		probably benign	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778		probably benign	Het
Rhoc	A	T	3: 104,791,991	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571	V925G	probably damaging	Het
Rptor	G	T	11: 119,884,967	R988L	probably benign	Het
Slc25a32	A	T	15: 39,099,897	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426	K4*	probably null	Het
Ss18	A	C	18: 14,679,421	Y38D	probably damaging	Het
Syt4	T	A	18: 31,447,220		probably benign	Het
Taar4	A	T	10: 23,961,406	N305Y	probably damaging	Het
Taar7b	A	T	10: 24,000,294	Y119F	probably benign	Het
Tcaf1	G	T	6: 42,686,390	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,445,810	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,116,948	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,747,116	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,421,453		probably null	Het
Ttn	T	G	2: 76,761,226	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539	C114R	possibly damaging	Het
Wdr33	T	C	18: 31,833,335	V135A	probably damaging	Het
Zc3h13	T	A	14: 75,330,468	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113	W274*	probably null	Het
Zfp219	T	A	14: 52,006,706	H627L	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
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
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'- AGGAGACCACTTTGTCGTCGCC -3'
(R):5'- ATAGGGAGCAAGCATCCACCGC -3'

Sequencing Primer
(F):5'- gagcaagccaccaggag -3'
(R):5'- CACACACCTTCCGTGGC -3'

Posted On

2013-05-09