Incidental Mutation 'R3034:Mbl1'
ID 264795
Institutional Source Beutler Lab
Gene Symbol Mbl1
Ensembl Gene ENSMUSG00000037780
Gene Name mannose-binding lectin (protein A) 1
Synonyms MBP-A, MBL-A
MMRRC Submission 040550-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3034 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 40873415-40881558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40880790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 226 (S226Y)
Ref Sequence ENSEMBL: ENSMUSP00000153147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047095] [ENSMUST00000225792]
AlphaFold P39039
Predicted Effect probably benign
Transcript: ENSMUST00000047095
SMART Domains Protein: ENSMUSP00000048765
Gene: ENSMUSG00000037780

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 probably damaging
Transcript: ENSMUST00000225792
AA Change: S226Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (44/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e T C 11: 70,207,079 (GRCm39) I576V probably benign Het
Apol7a T G 15: 77,273,923 (GRCm39) I180L probably benign Het
Aptx T C 4: 40,694,994 (GRCm39) N114S probably benign Het
Bltp3a T A 17: 28,113,720 (GRCm39) D1297E probably damaging Het
Cd40 T A 2: 164,904,235 (GRCm39) S65R probably benign Het
Cdh23 C T 10: 60,244,789 (GRCm39) probably benign Het
Coro7 G A 16: 4,450,155 (GRCm39) R565W probably damaging Het
Cpt1a C T 19: 3,428,390 (GRCm39) T588M probably damaging Het
Defb23 A G 2: 152,301,189 (GRCm39) S128P possibly damaging Het
Dgki G A 6: 37,064,605 (GRCm39) H250Y probably damaging Het
Fgr T C 4: 132,725,807 (GRCm39) probably null Het
Fkbp15 T C 4: 62,225,129 (GRCm39) probably null Het
Gpr137c C T 14: 45,457,733 (GRCm39) S95L probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Krt1 C A 15: 101,759,068 (GRCm39) R32L unknown Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mrps28 T A 3: 8,988,675 (GRCm39) D61V probably benign Het
Mthfd1 A G 12: 76,336,244 (GRCm39) K299E probably benign Het
Myo1b A G 1: 51,812,406 (GRCm39) Y738H possibly damaging Het
Myo5c A G 9: 75,193,859 (GRCm39) T1205A probably benign Het
Nfatc2 C T 2: 168,376,940 (GRCm39) G317S probably damaging Het
Nln C T 13: 104,173,947 (GRCm39) V525I possibly damaging Het
Nrap T C 19: 56,352,437 (GRCm39) E549G probably damaging Het
Nwd2 T A 5: 63,957,446 (GRCm39) Y259N probably damaging Het
Oas3 T C 5: 120,909,121 (GRCm39) D275G probably damaging Het
Or14a256 A T 7: 86,264,970 (GRCm39) D294E possibly damaging Het
Ovch2 A G 7: 107,384,699 (GRCm39) S473P probably damaging Het
Pde8b T A 13: 95,359,275 (GRCm39) Y16F probably damaging Het
Pmfbp1 A T 8: 110,247,553 (GRCm39) probably null Het
Pmvk T C 3: 89,375,824 (GRCm39) V74A probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,390,881 (GRCm39) T202S unknown Het
Rheb C T 5: 25,008,721 (GRCm39) E166K probably damaging Het
Rnf5 A G 17: 34,822,332 (GRCm39) V39A possibly damaging Het
Scn7a T C 2: 66,513,152 (GRCm39) Y1168C probably damaging Het
Tas2r114 A G 6: 131,666,611 (GRCm39) I139T probably benign Het
Tma7 T C 9: 108,911,274 (GRCm39) probably benign Het
Tmem181a T A 17: 6,330,901 (GRCm39) S13T possibly damaging Het
Tmem62 C T 2: 120,809,605 (GRCm39) probably benign Het
Trim71 T C 9: 114,341,912 (GRCm39) D790G probably damaging Het
Trp53tg5 T C 2: 164,313,219 (GRCm39) K152R probably benign Het
Zdbf2 C A 1: 63,343,364 (GRCm39) A581E probably damaging Het
Other mutations in Mbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Mbl1 APN 14 40,875,703 (GRCm39) critical splice donor site probably null
IGL02108:Mbl1 APN 14 40,875,608 (GRCm39) missense possibly damaging 0.73
IGL02171:Mbl1 APN 14 40,876,455 (GRCm39) splice site probably benign
IGL03167:Mbl1 APN 14 40,880,543 (GRCm39) missense probably benign 0.00
R0110:Mbl1 UTSW 14 40,880,706 (GRCm39) missense probably damaging 1.00
R0450:Mbl1 UTSW 14 40,880,706 (GRCm39) missense probably damaging 1.00
R0510:Mbl1 UTSW 14 40,880,706 (GRCm39) missense probably damaging 1.00
R0519:Mbl1 UTSW 14 40,880,522 (GRCm39) missense probably damaging 0.99
R2138:Mbl1 UTSW 14 40,875,648 (GRCm39) missense possibly damaging 0.73
R3035:Mbl1 UTSW 14 40,880,790 (GRCm39) missense probably damaging 1.00
R3036:Mbl1 UTSW 14 40,880,790 (GRCm39) missense probably damaging 1.00
R4723:Mbl1 UTSW 14 40,876,515 (GRCm39) missense possibly damaging 0.51
R5044:Mbl1 UTSW 14 40,880,681 (GRCm39) missense possibly damaging 0.95
R5347:Mbl1 UTSW 14 40,880,786 (GRCm39) missense probably damaging 1.00
R5420:Mbl1 UTSW 14 40,879,153 (GRCm39) missense possibly damaging 0.46
R6199:Mbl1 UTSW 14 40,875,572 (GRCm39) missense unknown
R6700:Mbl1 UTSW 14 40,880,511 (GRCm39) missense probably damaging 1.00
R7193:Mbl1 UTSW 14 40,880,669 (GRCm39) missense probably damaging 1.00
R8817:Mbl1 UTSW 14 40,875,555 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCCCAGGAATGCTGAAGAG -3'
(R):5'- TCATGGTCAGCTTCCATTCATG -3'

Sequencing Primer
(F):5'- GGCCATTCAAGAAGTGGCC -3'
(R):5'- TGTCCTCATGCCACAACC -3'
Posted On 2015-02-05