Incidental Mutation 'R4181:Lmbr1l'
ID 319753
Institutional Source Beutler Lab
Gene Symbol Lmbr1l
Ensembl Gene ENSMUSG00000022999
Gene Name limb region 1 like
Synonyms D15Ertd735e, 1110013E13Rik
MMRRC Submission 041017-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4181 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 98801798-98815944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98806601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 270 (L270Q)
Ref Sequence ENSEMBL: ENSMUSP00000023736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023736] [ENSMUST00000109127]
AlphaFold Q9D1E5
Predicted Effect possibly damaging
Transcript: ENSMUST00000023736
AA Change: L270Q

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: L270Q

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 0.5346 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 92% (48/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,540,279 (GRCm39) Y1445C probably damaging Het
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Atp11b A G 3: 35,854,714 (GRCm39) K284R probably benign Het
Atp11b A G 3: 35,843,707 (GRCm39) T185A probably damaging Het
Bcas1 A G 2: 170,260,547 (GRCm39) V44A probably benign Het
Carmil3 G A 14: 55,741,412 (GRCm39) D1066N probably benign Het
Cfap251 T C 5: 123,431,873 (GRCm39) I549T probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Clic4 A G 4: 134,953,350 (GRCm39) V98A probably benign Het
Cmpk2 T C 12: 26,527,046 (GRCm39) V345A probably damaging Het
Col6a3 A T 1: 90,735,336 (GRCm39) I771N probably damaging Het
Cyp2d34 A T 15: 82,501,486 (GRCm39) probably null Het
Cyp7a1 C T 4: 6,271,205 (GRCm39) G317E probably benign Het
Ddx1 A T 12: 13,281,504 (GRCm39) L353* probably null Het
Dnhd1 T A 7: 105,343,161 (GRCm39) W1502R probably damaging Het
Drc1 T C 5: 30,513,057 (GRCm39) V377A probably benign Het
Fyb1 A G 15: 6,610,404 (GRCm39) N326D probably benign Het
Gapdh C T 6: 125,142,197 (GRCm39) probably benign Het
Gm973 A G 1: 59,590,399 (GRCm39) Y302C possibly damaging Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Gtpbp3 C T 8: 71,944,111 (GRCm39) T285I probably damaging Het
Hnrnpul1 T C 7: 25,426,237 (GRCm39) D538G probably damaging Het
Kif26b G A 1: 178,742,991 (GRCm39) S582N probably damaging Het
Lgals4 T C 7: 28,535,437 (GRCm39) V107A possibly damaging Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Lpcat3 C T 6: 124,680,187 (GRCm39) probably benign Het
Lrp1b G A 2: 40,501,446 (GRCm39) T219I probably damaging Het
Man2a2 T A 7: 80,001,487 (GRCm39) E1140V possibly damaging Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or7g30 C T 9: 19,353,031 (GRCm39) A274V possibly damaging Het
Or8k53 A T 2: 86,177,581 (GRCm39) H176Q probably damaging Het
Pdss1 T C 2: 22,805,517 (GRCm39) I265T probably damaging Het
Piezo2 T C 18: 63,257,801 (GRCm39) probably null Het
Rad50 T A 11: 53,592,832 (GRCm39) N106I probably benign Het
Rbbp6 A G 7: 122,593,958 (GRCm39) Y568C probably damaging Het
Rorc G A 3: 94,294,500 (GRCm39) C33Y probably damaging Het
Ssc4d T C 5: 135,990,778 (GRCm39) E470G possibly damaging Het
Tnxb T G 17: 34,928,428 (GRCm39) V2614G possibly damaging Het
Trip11 A T 12: 101,860,027 (GRCm39) D282E probably damaging Het
Ttn G T 2: 76,706,811 (GRCm39) probably benign Het
Vangl1 A T 3: 102,073,097 (GRCm39) probably benign Het
Wiz T C 17: 32,586,959 (GRCm39) E117G probably damaging Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R 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
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
R6735:Lmbr1l UTSW 15 98,807,121 (GRCm39) missense probably damaging 1.00
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'- GTACCAAGGTCCCACTTACTC -3'
(R):5'- CTACTGGAAGACCTGGAGGAAC -3'

Sequencing Primer
(F):5'- GCATGTGAACCCACCGTCAG -3'
(R):5'- CCTGGAGGAACAGCTGAACTG -3'
Posted On 2015-06-10