Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02947:Masp1'

364806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Masp1

Ensembl Gene

ENSMUSG00000022887

Gene Name

mannan-binding lectin serine peptidase 1

Synonyms

Crarf

Accession Numbers

Genbank: NM_008555; MGI: 88492

Is this an essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

23449417-23520815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23494726 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 153 (D153A)

Ref Sequence

ENSEMBL: ENSMUSP00000155665 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000089883
AA Change: D153A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: D153A

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

noncoding transcript
Transcript: ENSMUST00000229152

Predicted Effect

probably damaging
Transcript: ENSMUST00000229619
AA Change: D153A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230040
AA Change: D153A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001L19Rik	T	A	13: 68,611,193	F95L	probably benign	Het
Aasdh	A	G	5: 76,902,110	V13A	probably benign	Het
Atp8b5	T	A	4: 43,305,774	I106K	possibly damaging	Het
Cdh15	T	C	8: 122,865,372	S633P	probably benign	Het
Celsr3	A	G	9: 108,845,935	T228A	probably benign	Het
Chrng	A	G	1: 87,209,884		probably null	Het
Coprs	T	C	8: 13,885,782	E79G	probably damaging	Het
Cpb2	A	C	14: 75,283,318	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,470,578	I368N	probably damaging	Het
Ddah1	T	C	3: 145,759,087	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,431,033	T573A	probably benign	Het
Exoc6b	T	A	6: 84,858,429	M375L	probably benign	Het
Fasn	T	C	11: 120,815,676	E994G	probably damaging	Het
Fem1a	T	A	17: 56,258,640	C578S	probably benign	Het
Garnl3	A	G	2: 33,046,594	S188P	probably damaging	Het
Gpn3	T	C	5: 122,378,488	V60A	possibly damaging	Het
Hnrnpr	A	G	4: 136,316,379	D59G	probably damaging	Het
Hydin	A	T	8: 110,418,462	E815V	probably damaging	Het
Itga9	C	T	9: 118,658,533	T228M	probably damaging	Het
Kpna7	T	C	5: 144,994,074	I320M	probably damaging	Het
Lnpep	T	C	17: 17,570,972	T437A	probably damaging	Het
Ltf	C	T	9: 111,038,947	T48I	probably benign	Het
Mcpt9	T	A	14: 56,026,916	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787	S171T	probably damaging	Het
Nos1	G	A	5: 117,943,317	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,229,246	S55P	probably benign	Het
Oc90	T	C	15: 65,888,134	K212R	probably benign	Het
Olfr1095	C	T	2: 86,850,786	R304K	probably benign	Het
Olfr446	A	G	6: 42,927,896	I222V	probably benign	Het
Olfr771	C	A	10: 129,160,570	C138F	probably damaging	Het
Prr12	T	A	7: 45,048,556	Q645L	unknown	Het
Psmd9	A	G	5: 123,246,215	I145V	probably benign	Het
Rbks	T	C	5: 31,660,063	I121V	probably benign	Het
Rnase2b	A	T	14: 51,162,807	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,839,854	E78G	probably benign	Het
Sltm	A	G	9: 70,591,664	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,034,945	Y100*	probably null	Het
Srrm2	T	C	17: 23,810,746	S222P	probably benign	Het
Sult3a1	G	A	10: 33,864,050	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,551,360	D132G	probably damaging	Het
Tmem53	C	T	4: 117,268,088	Q111*	probably null	Het
Togaram1	T	A	12: 65,021,500	V1709D	probably damaging	Het
Trpm3	A	T	19: 22,901,119	D628V	probably damaging	Het
Ttn	T	A	2: 76,714,494	K31009*	probably null	Het
Vldlr	A	G	19: 27,239,720	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,957,246	F245S	probably benign	Het
Vrtn	T	A	12: 84,648,484	S3T	probably damaging	Het
Vwa7	A	G	17: 35,023,500		probably null	Het
Wrnip1	T	A	13: 32,822,070	Y632N	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
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
X0065:Masp1	UTSW	16	23513969	missense	probably damaging	1.00

Posted On

2015-12-18