Incidental Mutation 'IGL02108:Mbl1'
ID280030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbl1
Ensembl Gene ENSMUSG00000037780
Gene Namemannose-binding lectin (protein A) 1
SynonymsMBL-A, MBP-A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02108
Quality Score
Status
Chromosome14
Chromosomal Location41151458-41159601 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41153651 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 21 (S21P)
Ref Sequence ENSEMBL: ENSMUSP00000153147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047095] [ENSMUST00000225792]
Predicted Effect unknown
Transcript: ENSMUST00000047095
AA Change: S21P
SMART Domains Protein: ENSMUSP00000048765
Gene: ENSMUSG00000037780
AA Change: S21P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Collagen 35 91 2.8e-10 PFAM
CLECT 105 236 2.22e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225779
Predicted Effect possibly damaging
Transcript: ENSMUST00000225792
AA Change: S21P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation does not result in overt abnormalities. However mutant mice have shown increased survival in a mouse model of acute septic peritonitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Mbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Mbl1 APN 14 41153746 critical splice donor site probably null
IGL02171:Mbl1 APN 14 41154498 splice site probably benign
IGL03167:Mbl1 APN 14 41158586 missense probably benign 0.00
R0110:Mbl1 UTSW 14 41158749 missense probably damaging 1.00
R0450:Mbl1 UTSW 14 41158749 missense probably damaging 1.00
R0510:Mbl1 UTSW 14 41158749 missense probably damaging 1.00
R0519:Mbl1 UTSW 14 41158565 missense probably damaging 0.99
R2138:Mbl1 UTSW 14 41153691 missense possibly damaging 0.73
R3034:Mbl1 UTSW 14 41158833 missense probably damaging 1.00
R3035:Mbl1 UTSW 14 41158833 missense probably damaging 1.00
R3036:Mbl1 UTSW 14 41158833 missense probably damaging 1.00
R4723:Mbl1 UTSW 14 41154558 missense possibly damaging 0.51
R5044:Mbl1 UTSW 14 41158724 missense possibly damaging 0.95
R5347:Mbl1 UTSW 14 41158829 missense probably damaging 1.00
R5420:Mbl1 UTSW 14 41157196 missense possibly damaging 0.46
R6199:Mbl1 UTSW 14 41153615 missense unknown
R6700:Mbl1 UTSW 14 41158554 missense probably damaging 1.00
R7193:Mbl1 UTSW 14 41158712 missense probably damaging 1.00
Posted On2015-04-16