Incidental Mutation 'R2138:Mbl1'
ID 235996
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 040141-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2138 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 40873415-40881558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40875648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 34 (I34K)
Ref Sequence ENSEMBL: ENSMUSP00000153147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047095] [ENSMUST00000225792]
AlphaFold P39039
Predicted Effect unknown
Transcript: ENSMUST00000047095
AA Change: I34K
SMART Domains Protein: ENSMUSP00000048765
Gene: ENSMUSG00000037780
AA Change: I34K

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: I34K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,122 (GRCm39) V6A probably benign Het
Abcc6 A G 7: 45,630,475 (GRCm39) F1262L probably damaging Het
Acot13 A T 13: 25,002,188 (GRCm39) probably null Het
Adgrv1 T C 13: 81,593,439 (GRCm39) I4183V probably benign Het
Aff4 T G 11: 53,263,339 (GRCm39) S120A possibly damaging Het
Afp A G 5: 90,647,506 (GRCm39) E250G probably damaging Het
Ankrd34b A T 13: 92,575,914 (GRCm39) D382V probably damaging Het
Arhgef19 A T 4: 140,978,111 (GRCm39) I577F probably damaging Het
Arl6 A G 16: 59,442,830 (GRCm39) probably benign Het
Atp2b2 A T 6: 113,773,268 (GRCm39) M333K probably benign Het
Atp8b3 C A 10: 80,362,939 (GRCm39) A635S possibly damaging Het
Baiap2 A G 11: 119,847,928 (GRCm39) T19A possibly damaging Het
Bcar3 A G 3: 122,306,645 (GRCm39) D206G probably damaging Het
Ccdc162 A T 10: 41,457,293 (GRCm39) M85K probably benign Het
Clec4a4 A G 6: 123,000,937 (GRCm39) N217D probably damaging Het
Csmd1 T C 8: 15,979,088 (GRCm39) Y2832C probably damaging Het
Cubn A G 2: 13,449,189 (GRCm39) I962T probably damaging Het
Dennd4a A G 9: 64,796,619 (GRCm39) Y852C probably damaging Het
Dhcr24 G T 4: 106,429,499 (GRCm39) E191* probably null Het
Dusp12 G A 1: 170,708,166 (GRCm39) Q114* probably null Het
Elfn2 G T 15: 78,558,238 (GRCm39) T103K probably benign Het
Eme1 A T 11: 94,539,018 (GRCm39) V314E probably damaging Het
Epb41l3 A G 17: 69,514,875 (GRCm39) E4G probably damaging Het
Exoc6b A T 6: 84,966,464 (GRCm39) L170Q probably damaging Het
Fbln5 C T 12: 101,728,179 (GRCm39) M261I probably benign Het
Fgf22 T C 10: 79,592,435 (GRCm39) V64A probably damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Gatad2b T A 3: 90,259,420 (GRCm39) S401R probably damaging Het
Gen1 A T 12: 11,291,622 (GRCm39) S722R probably damaging Het
Gm10754 A T 10: 97,518,132 (GRCm39) probably benign Het
Grid2 G A 6: 64,322,782 (GRCm39) R594Q probably damaging Het
Grm7 C A 6: 110,623,098 (GRCm39) N90K probably damaging Het
Herc1 G A 9: 66,377,589 (GRCm39) V3452M possibly damaging Het
Il22ra2 T A 10: 19,508,618 (GRCm39) F215L probably benign Het
Kank1 G A 19: 25,389,117 (GRCm39) G930D probably benign Het
Klra3 A T 6: 130,310,121 (GRCm39) V133D probably benign Het
Lims2 A G 18: 32,088,460 (GRCm39) E220G possibly damaging Het
Mbd3l2 A T 9: 18,356,254 (GRCm39) D193V probably damaging Het
Mgam C T 6: 40,733,384 (GRCm39) P839S probably damaging Het
Mmp9 G T 2: 164,794,387 (GRCm39) E460* probably null Het
Mov10 T C 3: 104,711,558 (GRCm39) H316R probably benign Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Myo15b T C 11: 115,774,633 (GRCm39) S2082P probably benign Het
Myrfl G A 10: 116,631,443 (GRCm39) T706I probably benign Het
Nampt C A 12: 32,888,421 (GRCm39) H191N possibly damaging Het
Niban1 G A 1: 151,572,002 (GRCm39) V316M probably damaging Het
Nphp3 A G 9: 103,903,102 (GRCm39) E693G possibly damaging Het
Obscn A T 11: 58,894,491 (GRCm39) Y1191* probably null Het
Or10z1 A T 1: 174,078,302 (GRCm39) probably null Het
Or1r1 A T 11: 73,875,129 (GRCm39) Y102N probably damaging Het
Or7a40 A G 16: 16,491,069 (GRCm39) Y259H probably damaging Het
Osbpl10 A G 9: 115,061,202 (GRCm39) N760S probably benign Het
Otof A G 5: 30,619,114 (GRCm39) V10A probably benign Het
Pkhd1l1 A C 15: 44,364,853 (GRCm39) E664A probably damaging Het
Pnp2 T C 14: 51,201,161 (GRCm39) S178P probably damaging Het
Pvr G A 7: 19,650,927 (GRCm39) T199I probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnaseh2b T C 14: 62,598,794 (GRCm39) V173A probably benign Het
Septin12 C T 16: 4,810,070 (GRCm39) R155H probably damaging Het
Slco6d1 G T 1: 98,371,385 (GRCm39) R290L probably benign Het
Snx32 A G 19: 5,546,157 (GRCm39) V335A probably damaging Het
Son T C 16: 91,456,260 (GRCm39) V1669A possibly damaging Het
Speer1f A T 5: 11,469,052 (GRCm39) R68* probably null Het
Tbata C T 10: 61,015,063 (GRCm39) T116I probably benign Het
Tdrd1 T A 19: 56,831,021 (GRCm39) S279T probably benign Het
Thsd7a A T 6: 12,471,072 (GRCm39) Y515* probably null Het
Tmem102 T G 11: 69,695,940 (GRCm39) L40F probably damaging Het
Tmem169 A G 1: 72,340,155 (GRCm39) N195S probably damaging Het
Tmem201 A T 4: 149,802,537 (GRCm39) S613T probably damaging Het
Tnfaip6 A T 2: 51,942,344 (GRCm39) I218F possibly damaging Het
Tube1 C A 10: 39,023,347 (GRCm39) H331Q probably benign Het
Wwc1 G A 11: 35,732,714 (GRCm39) T998I possibly damaging Het
Xpc A T 6: 91,475,104 (GRCm39) Y638* probably null Het
Zdhhc4 A T 5: 143,310,017 (GRCm39) Y80* probably null 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
R3034:Mbl1 UTSW 14 40,880,790 (GRCm39) missense probably damaging 1.00
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'- CAGGGGTGCAGATCGCTATAG -3'
(R):5'- CACTGTTGAGTGGGAGGCAG -3'

Sequencing Primer
(F):5'- GTGCAGATCGCTATAGTTAAGAAC -3'
(R):5'- TATTGGGAAAAGATTGTTATGAGGG -3'
Posted On 2014-10-01