Incidental Mutation 'IGL02598:Masp1'
ID299967
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: 0.128) question?
Stock #IGL02598
Quality Score
Status
Chromosome16
Chromosomal Location23449417-23520815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23459631 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 523 (M523L)
Ref Sequence ENSEMBL: ENSMUSP00000087327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089883]
Predicted Effect probably benign
Transcript: ENSMUST00000089883
AA Change: M523L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: M523L

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,943,621 M1K probably null Het
Abca13 C T 11: 9,431,898 T3850I probably damaging Het
Abcc4 A T 14: 118,668,369 L95* probably null Het
Acacb A G 5: 114,246,037 Y2209C probably damaging Het
Acadm A G 3: 153,938,544 probably benign Het
Arid2 G A 15: 96,371,536 V1177M probably damaging Het
Atp8a1 A T 5: 67,682,756 probably null Het
BC048403 G A 10: 121,739,971 probably benign Het
Catsperd A G 17: 56,647,815 probably null Het
Cd28 A G 1: 60,763,339 probably benign Het
Cep164 A G 9: 45,770,704 Y1934H probably damaging Het
Cep350 T C 1: 155,862,967 I2377V probably benign Het
Csmd3 T C 15: 47,669,690 K1581E probably damaging Het
Dab2 A T 15: 6,429,366 N232I probably damaging Het
Dyrk4 G A 6: 126,884,019 probably benign Het
Efcab14 T A 4: 115,740,434 C75* probably null Het
Elovl1 T C 4: 118,431,419 probably null Het
Eps8l2 T G 7: 141,354,936 probably benign Het
Gm4907 A T X: 23,907,471 T404S probably benign Het
Grik1 A T 16: 87,947,984 V460E probably damaging Het
Gtf2f2 A G 14: 76,007,742 S35P probably benign Het
Ifi203 A G 1: 173,935,002 probably benign Het
Ifi209 T C 1: 173,644,715 V374A probably damaging Het
Lars A G 18: 42,227,277 S705P possibly damaging Het
Lcmt1 A G 7: 123,421,648 probably benign Het
Limd1 T A 9: 123,480,171 Y312N probably benign Het
Limd1 T C 9: 123,516,868 S571P probably benign Het
Lin28b A T 10: 45,420,526 D125E possibly damaging Het
Lmtk3 T C 7: 45,793,140 S416P probably damaging Het
Map7d3 T C X: 56,809,786 T446A probably benign Het
Mroh4 C A 15: 74,611,243 probably null Het
Mtmr6 G A 14: 60,300,504 A651T probably damaging Het
Myocd A G 11: 65,183,470 S738P probably benign Het
Olfr1176 A T 2: 88,340,251 I229F possibly damaging Het
Olfr685 A G 7: 105,180,956 V134A probably damaging Het
Olfr714 A T 7: 107,074,716 N296I possibly damaging Het
Olfr803 A T 10: 129,691,273 I256N possibly damaging Het
Olfr984 A T 9: 40,100,565 F308L probably benign Het
Parg G T 14: 32,214,324 V479L probably damaging Het
Pcdhb10 C A 18: 37,413,781 H637N possibly damaging Het
Plekhg2 G A 7: 28,360,475 T1118I possibly damaging Het
Podxl T C 6: 31,524,420 E400G probably damaging Het
Prss54 C A 8: 95,565,709 V81F probably damaging Het
Pzp A G 6: 128,487,457 L1369P probably benign Het
Rfx8 A T 1: 39,695,968 probably benign Het
Rgs6 C T 12: 83,091,797 P302S probably benign Het
Rnf148 A C 6: 23,654,457 I180S probably damaging Het
Sacm1l A G 9: 123,578,996 D350G probably benign Het
Slc33a1 C T 3: 63,943,332 G524S probably benign Het
Slc5a7 A G 17: 54,284,193 V237A probably benign Het
Spink7 T C 18: 62,594,285 D56G probably damaging Het
Syn3 A G 10: 86,467,199 S31P probably damaging Het
Thrb C A 14: 18,008,606 P110Q possibly damaging Het
Vmn2r76 G T 7: 86,228,671 T506K probably benign Het
Vps45 A G 3: 96,031,042 L486P probably benign Het
Zan G A 5: 137,446,211 T1823M unknown Het
Zdhhc6 T A 19: 55,314,527 Q14L probably benign Het
Zfp990 A T 4: 145,536,963 N177I possibly 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
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
X0065:Masp1 UTSW 16 23513969 missense probably damaging 1.00
Posted On2015-04-16