Mutagenetix > Incidental Mutation

Incidental Mutation 'R6901:Masp1'

538561

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 #

R6901 (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 C at 23513834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 84 (K84E)

Ref Sequence

ENSEMBL: ENSMUSP00000087327 (fasta)

Gene Model

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

AlphaFold

P98064

Predicted Effect

probably damaging
Transcript: ENSMUST00000089883
AA Change: K84E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: K84E

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: K84E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000230040
AA Change: K84E

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,368,155	S136T	probably benign	Het
Anxa10	T	C	8: 62,096,782	T10A	probably damaging	Het
Ap3b1	A	G	13: 94,418,142	E262G	probably benign	Het
Ap3b2	T	C	7: 81,484,912		probably null	Het
Arhgef40	A	G	14: 51,997,368	T1043A	probably damaging	Het
Arhgef5	T	A	6: 43,273,298	S328T	probably benign	Het
Arid4a	A	G	12: 71,067,137	K166R	probably damaging	Het
Cdh12	A	G	15: 21,583,786	I571V	probably benign	Het
Cdh4	G	A	2: 179,860,194	V316I	probably benign	Het
Cebpg	A	T	7: 35,050,777	H20Q	probably benign	Het
Ces4a	G	A	8: 105,146,698	V392I	probably benign	Het
CN725425	C	A	15: 91,240,763	P169T	possibly damaging	Het
Cyp2c54	A	G	19: 40,070,259	F243S	probably damaging	Het
Dkk2	T	A	3: 132,175,126		probably null	Het
Dync2h1	A	G	9: 7,131,855	Y1651H	probably damaging	Het
Dyrk1b	T	A	7: 28,185,117	L346Q	probably damaging	Het
Ephx4	T	C	5: 107,413,561	V85A	probably benign	Het
Etv6	A	G	6: 134,266,458	E392G	probably benign	Het
Fli1	T	A	9: 32,429,925	N202I	probably benign	Het
Gm10093	A	G	17: 78,492,660	E360G	probably benign	Het
Gpc6	G	T	14: 117,951,217	R421L	possibly damaging	Het
Gse1	A	G	8: 120,229,822		probably benign	Het
Hnrnpab	T	C	11: 51,601,848		probably benign	Het
Hyal4	A	G	6: 24,756,191	E136G	probably damaging	Het
Kcna3	C	T	3: 107,036,568	A49V	probably benign	Het
Krt42	C	T	11: 100,269,716	M52I	probably benign	Het
Lyrm4	A	T	13: 36,117,124	Y13N	probably damaging	Het
Map2	C	T	1: 66,421,773	S1576L	possibly damaging	Het
Map3k12	G	T	15: 102,500,629	P817Q	possibly damaging	Het
Map3k12	G	T	15: 102,500,630	P817T	possibly damaging	Het
Mki67	A	T	7: 135,708,760		probably null	Het
Mrap	C	G	16: 90,749,305	S94C	probably damaging	Het
Mybpc2	C	A	7: 44,505,355	C986F	probably damaging	Het
Nbea	A	C	3: 56,019,415	M789R	probably damaging	Het
Olfr1416	G	T	1: 92,480,605	N5K	probably damaging	Het
Olfr694	T	C	7: 106,689,189	I181V	probably benign	Het
Pde4a	A	G	9: 21,204,970	N475S	probably benign	Het
Pex7	C	T	10: 19,860,994	V297I	probably benign	Het
Pkd1l3	A	T	8: 109,614,614	H33L	unknown	Het
Prl8a6	A	T	13: 27,437,047	Y67N	possibly damaging	Het
Rcor1	A	T	12: 111,108,888	E383V	probably damaging	Het
Slc22a27	A	T	19: 7,926,579	S64R	probably damaging	Het
Snx7	G	A	3: 117,829,636	Q292*	probably null	Het
Tgm3	C	T	2: 130,041,970	T516M	possibly damaging	Het
Trim9	T	C	12: 70,346,639	E177G	probably damaging	Het
Ttc26	G	A	6: 38,401,144	R297H	possibly damaging	Het
Ttc28	C	A	5: 111,277,025	T1541N	possibly damaging	Het
Ttc8	T	A	12: 98,961,476	L202H	probably damaging	Het
Ttll13	T	C	7: 80,250,182	Y90H	probably damaging	Het
Uba1y	T	G	Y: 825,496	I286S	probably benign	Het
Ubxn11	G	A	4: 134,126,264	A125T	probably damaging	Het
Vmn1r48	A	G	6: 90,036,568	Y92H	possibly damaging	Het
Vmn1r74	T	C	7: 11,847,441	F223L	probably benign	Het
Vwa5b1	G	A	4: 138,586,569	T696I	probably benign	Het
Zfp266	G	T	9: 20,499,599	Y427*	probably null	Het
Zfp362	C	T	4: 128,786,015	C273Y	probably damaging	Het
Zfp385c	T	C	11: 100,632,759	N123S	probably benign	Het
Zfp936	T	A	7: 43,190,043	H311Q	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
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'- TCTCAGGAGGTTGAGCAGTG -3'
(R):5'- TACCGTGGAGCTAAACGAAATG -3'

Sequencing Primer
(F):5'- TGGCTATTGGCTACATTACAGAC -3'
(R):5'- GAAATGTTTGGTCAGATCCAGTCACC -3'

Posted On

2018-11-06