Incidental Mutation 'IGL00428:Masp1'
ID 3990
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
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # IGL00428
Quality Score
Status
Chromosome 16
Chromosomal Location 23449417-23520815 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23476312 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 400 (Y400H)
Ref Sequence ENSEMBL: ENSMUSP00000155665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089883] [ENSMUST00000229619] [ENSMUST00000230040]
AlphaFold P98064
Predicted Effect probably damaging
Transcript: ENSMUST00000089883
AA Change: Y400H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087327
Gene: ENSMUSG00000022887
AA Change: Y400H

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: Y400H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,011,727 N3491S probably benign Het
Adgrg6 G A 10: 14,467,375 P276L probably benign Het
Asap1 G A 15: 64,119,954 probably benign Het
Axl T C 7: 25,760,872 T723A probably damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Capn7 A G 14: 31,363,578 K503E probably benign Het
Cbln4 A G 2: 172,039,050 V108A probably benign Het
Ccdc189 A T 7: 127,585,038 S229T probably damaging Het
Ccdc71 C T 9: 108,464,155 T389M probably damaging Het
Ccdc91 A G 6: 147,606,954 T393A unknown Het
Cdh20 A T 1: 104,953,887 H359L probably benign Het
Coro7 C T 16: 4,634,636 V364M possibly damaging Het
Ctsq A T 13: 61,037,714 N204K probably damaging Het
Dnaja3 C T 16: 4,694,445 R238C probably damaging Het
Dynlt1a C T 17: 6,311,787 V39I possibly damaging Het
Gp1ba A G 11: 70,640,652 probably benign Het
Gtf3c3 T C 1: 54,415,955 Y583C probably damaging Het
Invs T C 4: 48,402,909 F514S probably damaging Het
Kif23 A T 9: 61,926,468 C484S probably benign Het
Olfml3 G A 3: 103,736,982 probably null Het
Pard3b T C 1: 62,161,198 S299P probably damaging Het
Pcdhb16 A T 18: 37,478,570 E194D possibly damaging Het
Pip5k1c A T 10: 81,305,711 T78S probably benign Het
Sept11 T C 5: 93,157,018 probably null Het
Sept8 A G 11: 53,531,996 N11D probably benign Het
Slc10a6 G A 5: 103,612,496 T211I probably benign Het
Smim8 T C 4: 34,769,006 T93A probably benign Het
Tg A G 15: 66,773,424 I774M probably benign Het
Tulp4 A G 17: 6,139,076 T58A probably damaging Het
Virma T C 4: 11,519,424 probably benign Het
Wdr62 T C 7: 30,270,752 D210G probably damaging Het
Zfp984 C T 4: 147,754,886 G503S probably benign Het
Other mutations in Masp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Masp1 APN 16 23458091 missense possibly damaging 0.93
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
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
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
Posted On 2012-04-20