Incidental Mutation 'IGL02718:Masp1'
ID304859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Masp1
Ensembl Gene ENSMUSG00000022887
Gene Namemannan-binding lectin serine peptidase 1
SynonymsCrarf
Accession Numbers

Genbank: NM_008555; MGI: 88492

Is this an essential gene? Probably non essential (E-score: 0.241) question?
Stock #IGL02718
Quality Score
Status
Chromosome16
Chromosomal Location23449417-23520815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23476293 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 406 (Y406C)
Ref Sequence ENSEMBL: ENSMUSP00000155665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089883] [ENSMUST00000229619] [ENSMUST00000230040]
Predicted Effect probably damaging
Transcript: ENSMUST00000089883
AA Change: Y406C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: Y406C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000229619
AA Change: Y406C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230040
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,699,904 D41G probably damaging Het
2210408I21Rik T A 13: 77,174,872 Y7N probably damaging Het
4921507P07Rik G T 6: 50,584,387 T184K probably damaging Het
Atf1 C A 15: 100,254,219 Q151K probably damaging Het
Brdt T C 5: 107,350,068 probably benign Het
Cep295 T C 9: 15,325,753 probably null Het
Ctnnd2 A G 15: 31,027,616 S1229G probably damaging Het
Dcaf15 T A 8: 84,098,376 I476L possibly damaging Het
Dlec1 A G 9: 119,137,286 I1108V probably benign Het
Dnah9 T A 11: 65,886,640 H3694L probably damaging Het
Dock10 A T 1: 80,523,818 D1838E probably benign Het
Dusp12 A T 1: 170,880,657 Y164N probably damaging Het
Ephx1 A G 1: 180,999,786 F101L probably damaging Het
Fbn1 C A 2: 125,369,886 C864F probably damaging Het
Fbxw24 T C 9: 109,624,790 E96G possibly damaging Het
Glt1d1 C A 5: 127,650,699 F78L probably damaging Het
Gm9602 A T 14: 4,776,474 R21* probably null Het
Grip1 T A 10: 120,075,515 *713K probably null Het
Hecw1 T C 13: 14,306,935 probably null Het
Il31ra G A 13: 112,530,369 R392* probably null Het
L3hypdh T G 12: 72,084,856 S101R probably damaging Het
Lpar5 T A 6: 125,082,244 D309E probably damaging Het
Mpdz T C 4: 81,385,202 I166M probably damaging Het
Nbea A T 3: 55,632,062 Y2759* probably null Het
Ncf1 A T 5: 134,227,448 probably null Het
Nek5 T G 8: 22,097,463 R314S probably benign Het
Nifk A C 1: 118,327,632 N38T probably damaging Het
Obscn C T 11: 59,077,858 V2772M probably damaging Het
Olfr1367 T C 13: 21,347,384 L152P probably damaging Het
Olfr181 T C 16: 58,926,096 I158M possibly damaging Het
Olfr419 G T 1: 174,250,707 Y73* probably null Het
Olfr584 C A 7: 103,085,583 L22I probably benign Het
Olfr707 A T 7: 106,891,329 M260K probably damaging Het
Olfr979 A T 9: 40,000,886 Y114N probably damaging Het
Pbxip1 A G 3: 89,448,004 E610G probably damaging Het
Pfas G T 11: 69,000,145 probably benign Het
Plk4 T C 3: 40,815,021 S102P probably damaging Het
Ptprz1 C T 6: 23,001,349 T1146I possibly damaging Het
Pum2 T A 12: 8,733,344 S598T probably benign Het
Ric1 T A 19: 29,533,240 W74R probably damaging Het
Riok3 C A 18: 12,152,996 S427* probably null Het
Ros1 A T 10: 52,118,232 D1317E probably damaging Het
Sfmbt2 A G 2: 10,402,031 D47G possibly damaging Het
Slc12a1 C T 2: 125,161,079 R177* probably null Het
Snai3 C A 8: 122,456,122 probably null Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Soat1 A T 1: 156,441,429 S151T probably benign Het
Stbd1 A G 5: 92,603,218 E37G possibly damaging Het
Syt10 A G 15: 89,814,079 I354T probably damaging Het
Trip11 A C 12: 101,886,025 S593R probably benign Het
Ubr1 T C 2: 120,914,883 E908G probably damaging Het
Yy1 T C 12: 108,815,479 F357L probably damaging Het
Other mutations in Masp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 unclassified 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
X0065:Masp1 UTSW 16 23513969 missense probably damaging 1.00
Posted On2015-04-16