Incidental Mutation 'IGL00232:Masp1'
ID2106
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: 0.155) question?
Stock #IGL00232
Quality Score
Status
Chromosome16
Chromosomal Location23449417-23520815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23458091 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 555 (E555K)
Ref Sequence ENSEMBL: ENSMUSP00000087327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089883]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089883
AA Change: E555K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: E555K

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik C T 9: 92,350,952 R43* probably null Het
4930407I10Rik C A 15: 82,066,380 Q1493K probably benign Het
Anapc1 A T 2: 128,645,130 probably benign Het
Armc8 T C 9: 99,505,734 probably null Het
Asz1 T G 6: 18,055,542 probably null Het
Atp6v0a4 G A 6: 38,092,790 R56* probably null Het
Bend6 T C 1: 33,883,538 D8G possibly damaging Het
Ccdc171 T A 4: 83,682,324 C870* probably null Het
Cd163 A G 6: 124,329,101 probably benign Het
Chd2 A G 7: 73,468,577 S1098P probably damaging Het
Col6a5 T G 9: 105,882,683 D1946A probably damaging Het
Gm6576 T A 15: 27,025,798 noncoding transcript Het
Gypa T G 8: 80,504,779 probably benign Het
Ighv9-3 T C 12: 114,141,071 probably benign Het
Itgb1 T G 8: 128,713,918 probably benign Het
Kctd15 A T 7: 34,650,745 probably null Het
Krtap13 A C 16: 88,751,535 S22A possibly damaging Het
Med13l T A 5: 118,724,071 S360T probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mfsd13a A G 19: 46,366,519 Y45C probably damaging Het
Neb T C 2: 52,235,556 D3662G possibly damaging Het
Nkx6-1 T C 5: 101,659,505 D337G possibly damaging Het
Nlrc5 T C 8: 94,484,623 probably null Het
Palb2 T C 7: 122,121,064 H468R probably damaging Het
Rai1 T G 11: 60,185,391 Y94D probably damaging Het
Slc27a3 A T 3: 90,385,441 Y605* probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Trpm7 T C 2: 126,829,031 E677G possibly damaging Het
Tstd2 A T 4: 46,120,002 probably benign Het
Unc5c T C 3: 141,788,940 I412T probably damaging Het
Other mutations in Masp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 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
X0065:Masp1 UTSW 16 23513969 missense probably damaging 1.00
Posted On2011-12-09