Incidental Mutation 'R6735:Lmbr1l'
ID 530202
Institutional Source Beutler Lab
Gene Symbol Lmbr1l
Ensembl Gene ENSMUSG00000022999
Gene Name limb region 1 like
Synonyms D15Ertd735e, 1110013E13Rik
MMRRC Submission 044853-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6735 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 98801798-98815944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98807121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 220 (M220K)
Ref Sequence ENSEMBL: ENSMUSP00000023736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023736] [ENSMUST00000109127]
AlphaFold Q9D1E5
Predicted Effect probably damaging
Transcript: ENSMUST00000023736
AA Change: M220K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: M220K

DomainStartEndE-ValueType
Pfam:LMBR1 28 269 2e-41 PFAM
Pfam:LMBR1 266 450 1.2e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109127
SMART Domains Protein: ENSMUSP00000104755
Gene: ENSMUSG00000022999

DomainStartEndE-ValueType
Pfam:LMBR1 1 324 6.3e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231087
Meta Mutation Damage Score 0.8910 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (47/47)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,026,274 (GRCm39) T265A probably benign Het
Adap1 A T 5: 139,278,900 (GRCm39) Y127N probably damaging Het
Alg8 T C 7: 97,032,189 (GRCm39) F246S probably benign Het
Alpk1 A G 3: 127,518,098 (GRCm39) Y68H probably damaging Het
Arhgef5 T C 6: 43,251,966 (GRCm39) S906P probably benign Het
C9 A T 15: 6,519,387 (GRCm39) D408V probably benign Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Cpeb4 T A 11: 31,874,700 (GRCm39) Y174N probably benign Het
Enpp3 A G 10: 24,683,351 (GRCm39) Y289H probably damaging Het
Erbin A T 13: 104,020,718 (GRCm39) D80E probably damaging Het
Fgd6 A T 10: 93,910,182 (GRCm39) E829V possibly damaging Het
Foxn2 T G 17: 88,794,223 (GRCm39) S387A probably benign Het
Hapstr1 T A 16: 8,673,764 (GRCm39) H230Q probably benign Het
Irag2 T C 6: 145,106,619 (GRCm39) L201S probably damaging Het
Kif13a A G 13: 46,906,222 (GRCm39) S574P possibly damaging Het
Lhx6 T G 2: 35,981,390 (GRCm39) D67A probably damaging Het
Macroh2a2 A G 10: 61,577,046 (GRCm39) I274T probably damaging Het
Naa35 T C 13: 59,773,378 (GRCm39) L111P probably damaging Het
Notch2 T A 3: 98,041,902 (GRCm39) V1307E probably damaging Het
Nts T A 10: 102,320,859 (GRCm39) M77L probably benign Het
Or5m11b A C 2: 85,805,778 (GRCm39) S64R possibly damaging Het
Pigz A G 16: 31,764,361 (GRCm39) N473S probably benign Het
Pkd2 A G 5: 104,628,195 (GRCm39) D423G probably damaging Het
Plac8 A G 5: 100,710,485 (GRCm39) probably null Het
Ppp2r2b T C 18: 42,821,653 (GRCm39) probably null Het
Proc T C 18: 32,256,701 (GRCm39) N322S probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Psd3 A G 8: 68,573,398 (GRCm39) probably null Het
Safb A G 17: 56,892,169 (GRCm39) probably benign Het
Scnn1g A G 7: 121,341,486 (GRCm39) D216G probably benign Het
Septin7 A G 9: 25,215,048 (GRCm39) E345G possibly damaging Het
Sult2a5 A T 7: 13,398,983 (GRCm39) K197* probably null Het
Suv39h1 C A X: 7,929,138 (GRCm39) R397L probably damaging Homo
Thbs4 T A 13: 92,891,674 (GRCm39) M814L possibly damaging Het
Tmem14a T A 1: 21,299,805 (GRCm39) probably benign Het
Tmprss11d C A 5: 86,457,159 (GRCm39) A167S probably damaging Het
Ttn C A 2: 76,629,252 (GRCm39) C14362F probably damaging Het
Usp15 T C 10: 123,004,272 (GRCm39) I161V possibly damaging Het
Vmn1r67 T C 7: 10,181,138 (GRCm39) L134P probably damaging Het
Wdr74 A G 19: 8,713,586 (GRCm39) E73G possibly damaging Het
Zbtb49 A T 5: 38,358,402 (GRCm39) M617K possibly damaging Het
Zc3h3 G A 15: 75,628,483 (GRCm39) T937I probably benign Het
Zeb2 C T 2: 45,000,028 (GRCm39) V25M probably null Het
Zfp108 T C 7: 23,961,197 (GRCm39) F596S probably damaging Het
Zfyve1 T A 12: 83,641,618 (GRCm39) N13Y possibly damaging Het
Zswim2 T C 2: 83,754,105 (GRCm39) D185G probably benign Het
Other mutations in Lmbr1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Lmbr1l APN 15 98,802,666 (GRCm39) missense probably damaging 1.00
IGL02097:Lmbr1l APN 15 98,815,772 (GRCm39) missense probably damaging 0.98
IGL02731:Lmbr1l APN 15 98,815,777 (GRCm39) missense probably damaging 0.96
finch UTSW 15 98,807,267 (GRCm39) critical splice donor site probably null
Gooseberry UTSW 15 98,810,308 (GRCm39) missense probably damaging 0.99
junco UTSW 15 98,810,408 (GRCm39) missense probably damaging 1.00
morula UTSW 15 98,802,672 (GRCm39) missense probably damaging 1.00
munia UTSW 15 98,807,150 (GRCm39) critical splice acceptor site probably null
strawberry UTSW 15 98,807,144 (GRCm39) nonsense probably null
R0310:Lmbr1l UTSW 15 98,806,654 (GRCm39) splice site probably benign
R1778:Lmbr1l UTSW 15 98,810,357 (GRCm39) missense probably damaging 1.00
R2418:Lmbr1l UTSW 15 98,805,418 (GRCm39) missense possibly damaging 0.89
R2419:Lmbr1l UTSW 15 98,805,418 (GRCm39) missense possibly damaging 0.89
R4181:Lmbr1l UTSW 15 98,806,601 (GRCm39) missense possibly damaging 0.94
R4379:Lmbr1l UTSW 15 98,807,144 (GRCm39) nonsense probably null
R4472:Lmbr1l UTSW 15 98,804,178 (GRCm39) missense probably benign 0.02
R5290:Lmbr1l UTSW 15 98,810,123 (GRCm39) missense probably damaging 1.00
R5410:Lmbr1l UTSW 15 98,807,143 (GRCm39) missense probably damaging 1.00
R5436:Lmbr1l UTSW 15 98,802,672 (GRCm39) missense probably damaging 1.00
R5667:Lmbr1l UTSW 15 98,805,489 (GRCm39) missense possibly damaging 0.88
R5671:Lmbr1l UTSW 15 98,805,489 (GRCm39) missense possibly damaging 0.88
R5918:Lmbr1l UTSW 15 98,810,308 (GRCm39) missense probably damaging 0.99
R6882:Lmbr1l UTSW 15 98,805,467 (GRCm39) missense probably damaging 0.99
R7131:Lmbr1l UTSW 15 98,804,204 (GRCm39) missense probably benign 0.05
R7136:Lmbr1l UTSW 15 98,809,372 (GRCm39) splice site probably null
R7169:Lmbr1l UTSW 15 98,807,075 (GRCm39) critical splice donor site probably benign
R7169:Lmbr1l UTSW 15 98,807,039 (GRCm39) frame shift probably null
R7336:Lmbr1l UTSW 15 98,811,468 (GRCm39) missense possibly damaging 0.94
R7541:Lmbr1l UTSW 15 98,807,267 (GRCm39) critical splice donor site probably null
R7603:Lmbr1l UTSW 15 98,806,572 (GRCm39) nonsense probably null
R7974:Lmbr1l UTSW 15 98,809,500 (GRCm39) missense probably benign 0.03
R8354:Lmbr1l UTSW 15 98,810,357 (GRCm39) missense probably damaging 1.00
R8454:Lmbr1l UTSW 15 98,810,357 (GRCm39) missense probably damaging 1.00
R8504:Lmbr1l UTSW 15 98,810,065 (GRCm39) missense probably damaging 0.97
R8933:Lmbr1l UTSW 15 98,807,150 (GRCm39) critical splice acceptor site probably null
R8974:Lmbr1l UTSW 15 98,810,408 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTTCTGACCAACTCCAG -3'
(R):5'- GCAAGACAAGTTGACATGGC -3'

Sequencing Primer
(F):5'- GTGTTCTGACCAACTCCAGATGATG -3'
(R):5'- AGACTTCTGGGAGTACTACCTC -3'
Posted On 2018-08-01