Incidental Mutation 'R5410:Lmbr1l'
ID 426527
Institutional Source Beutler Lab
Gene Symbol Lmbr1l
Ensembl Gene ENSMUSG00000022999
Gene Name limb region 1 like
Synonyms D15Ertd735e, 1110013E13Rik
MMRRC Submission 042979-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5410 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98801798-98815944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98807143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 213 (T213A)
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: T213A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: T213A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.8%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A G 8: 41,134,103 (GRCm39) M524V probably benign Het
Adamts20 T A 15: 94,179,838 (GRCm39) N1788I possibly damaging Het
Arfgef3 T G 10: 18,486,985 (GRCm39) I1350L probably damaging Het
Arhgap17 A G 7: 122,896,716 (GRCm39) probably null Het
Ascl5 A T 1: 135,978,926 (GRCm39) I129F probably damaging Het
AU040320 A T 4: 126,717,509 (GRCm39) H362L possibly damaging Het
Bpifb9a A T 2: 154,112,155 (GRCm39) N564Y probably benign Het
Cdon G T 9: 35,381,331 (GRCm39) D574Y probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Ces1e T A 8: 93,937,070 (GRCm39) I334F possibly damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Cntn3 T A 6: 102,255,314 (GRCm39) T195S probably benign Het
Csmd2 C A 4: 128,442,612 (GRCm39) H3221Q probably benign Het
Cyp2c68 T C 19: 39,687,728 (GRCm39) D423G possibly damaging Het
Dennd3 C T 15: 73,419,297 (GRCm39) T696M probably benign Het
Ep300 T C 15: 81,533,055 (GRCm39) M1704T unknown Het
Exoc2 A G 13: 31,048,839 (GRCm39) F738S probably damaging Het
Fis1 A G 5: 136,994,420 (GRCm39) E36G probably damaging Het
Galnt1 A G 18: 24,400,604 (GRCm39) I237V probably benign Het
Gspt1 A T 16: 11,048,374 (GRCm39) I416N probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hykk G A 9: 54,853,350 (GRCm39) C224Y probably damaging Het
Ifi211 T C 1: 173,733,829 (GRCm39) T111A probably benign Het
Il17rd T C 14: 26,817,868 (GRCm39) Y186H probably damaging Het
Klhl29 G T 12: 5,141,366 (GRCm39) N539K probably benign Het
Madd C T 2: 90,984,859 (GRCm39) R1318Q probably damaging Het
Mecom C A 3: 30,051,870 (GRCm39) A182S probably benign Het
Or13c25 C A 4: 52,910,991 (GRCm39) A268S probably benign Het
Or1e1 C T 11: 73,244,632 (GRCm39) P18S probably benign Het
Or4f56 C T 2: 111,703,637 (GRCm39) A188T probably damaging Het
Or52z1 A T 7: 103,436,581 (GRCm39) V301E probably damaging Het
Otud4 T A 8: 80,399,626 (GRCm39) M780K probably benign Het
Pdia5 A G 16: 35,273,906 (GRCm39) V130A probably damaging Het
Phldb2 T A 16: 45,645,975 (GRCm39) H202L possibly damaging Het
Ppig G A 2: 69,566,241 (GRCm39) G136E probably null Het
Prr14l C A 5: 32,985,121 (GRCm39) R1458L probably damaging Het
Ptpn3 T C 4: 57,205,019 (GRCm39) Y714C probably damaging Het
Ptprr T C 10: 116,024,235 (GRCm39) V182A possibly damaging Het
Rai14 A G 15: 10,575,024 (GRCm39) Y645H probably damaging Het
Rasgrp3 T C 17: 75,804,042 (GRCm39) I115T probably benign Het
Rc3h1 G T 1: 160,792,533 (GRCm39) R990L possibly damaging Het
Rdh5 T A 10: 128,754,160 (GRCm39) Q21L probably benign Het
Rfx8 A G 1: 39,749,316 (GRCm39) probably null Het
Scap A G 9: 110,203,250 (GRCm39) probably null Het
Shank1 T A 7: 44,001,246 (GRCm39) S988R unknown Het
Slc16a14 T A 1: 84,885,145 (GRCm39) I465F probably damaging Het
Slc41a2 A G 10: 83,117,232 (GRCm39) probably null Het
Tab2 T C 10: 7,795,585 (GRCm39) H225R possibly damaging Het
Tbx19 T A 1: 164,987,941 (GRCm39) N64I probably damaging Het
Tmprss11f A T 5: 86,677,965 (GRCm39) I268K probably damaging Het
Tox2 A G 2: 163,162,293 (GRCm39) M388V probably benign Het
Trbv17 T C 6: 41,140,472 (GRCm39) L109P probably damaging Het
Trim72 A G 7: 127,609,095 (GRCm39) H299R probably damaging Het
Ulbp3 G A 10: 3,076,473 (GRCm39) noncoding transcript Het
Vmn1r63 C T 7: 5,806,189 (GRCm39) V148I possibly damaging Het
Zfp938 A C 10: 82,061,092 (GRCm39) H509Q possibly damaging Het
Zfyve16 A G 13: 92,657,739 (GRCm39) V724A probably benign Het
Zscan10 T C 17: 23,829,395 (GRCm39) F569L probably damaging 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
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'- CTGTGTTCTGACCAACTCCAG -3'
(R):5'- GCAAGACAAGTTGACATGGC -3'

Sequencing Primer
(F):5'- GTGTTCTGACCAACTCCAGATGATG -3'
(R):5'- AGACTTCTGGGAGTACTACCTC -3'
Posted On 2016-09-01