Incidental Mutation 'R0541:Lao1'
ID49899
Institutional Source Beutler Lab
Gene Symbol Lao1
Ensembl Gene ENSMUSG00000024903
Gene NameL-amino acid oxidase 1
Synonyms
MMRRC Submission 038733-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R0541 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location118961578-118968912 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 118963802 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 75 (T75I)
Ref Sequence ENSEMBL: ENSMUSP00000062834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058651]
Predicted Effect probably benign
Transcript: ENSMUST00000058651
AA Change: T75I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000062834
Gene: ENSMUSG00000024903
AA Change: T75I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pyr_redox_2 39 133 1.9e-8 PFAM
Pfam:HI0933_like 58 98 2.2e-7 PFAM
Pfam:FAD_binding_2 59 99 2.2e-7 PFAM
Pfam:Pyr_redox 59 106 5.4e-7 PFAM
Pfam:NAD_binding_8 62 129 8.1e-15 PFAM
Pfam:Amino_oxidase 67 509 3.1e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142457
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show alterations in the free amino acid composition and antibacterial activity of milk and increased susceptibility to intramammary bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 131,139,143 M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,587,400 probably null Het
Abca7 C T 10: 80,007,351 A1220V probably benign Het
Adamts19 G A 18: 58,927,300 probably null Het
Agbl1 G A 7: 76,409,245 V194M probably benign Het
Arhgap20 G T 9: 51,849,663 S902I probably damaging Het
Atp11b T G 3: 35,806,944 D193E probably damaging Het
B3gntl1 A T 11: 121,644,604 probably benign Het
C2cd2 T C 16: 97,922,296 E7G possibly damaging Het
Camta2 A G 11: 70,681,621 L259P probably benign Het
Ccni T C 5: 93,187,704 N192D probably benign Het
Cgnl1 A G 9: 71,651,253 I946T possibly damaging Het
Chil3 T C 3: 106,161,232 probably null Het
Cntn5 A G 9: 9,673,402 probably benign Het
Cpn2 C T 16: 30,259,351 G511S possibly damaging Het
Dagla C A 19: 10,254,806 probably null Het
Dcc T C 18: 71,259,015 N1440S probably damaging Het
Drosha T A 15: 12,907,388 N1069K probably benign Het
Edc4 A G 8: 105,889,428 T812A probably benign Het
Eml4 A G 17: 83,440,042 I238V probably benign Het
Ep400 T C 5: 110,705,016 T1288A unknown Het
Fastkd1 A C 2: 69,702,406 L539R probably damaging Het
Fbln7 G A 2: 128,877,534 probably benign Het
Fbxo39 A G 11: 72,318,471 I386V probably benign Het
Gm17430 T C 18: 9,726,267 K135R probably damaging Het
Gm3646 T A 1: 39,804,323 T8S unknown Het
Gtsf1 A T 15: 103,421,192 V100E possibly damaging Het
Helz2 A G 2: 181,234,825 F1292S possibly damaging Het
Igf2bp3 G A 6: 49,107,467 probably benign Het
Ip6k2 T G 9: 108,804,627 D252E probably damaging Het
Iqck T A 7: 118,915,594 L232Q probably damaging Het
Kif18b A G 11: 102,915,175 V186A probably damaging Het
Klhl6 T A 16: 19,949,447 probably null Het
Lyst T C 13: 13,681,293 F2400L probably benign Het
Map3k9 A T 12: 81,734,223 S388T possibly damaging Het
Mmp11 G T 10: 75,926,933 H229N probably damaging Het
Myh7 T G 14: 54,974,701 I1529L probably benign Het
Nckap5 G T 1: 126,695,722 D11E possibly damaging Het
Ncoa1 A T 12: 4,323,033 F123I probably damaging Het
Nelfb A T 2: 25,203,980 D385E probably benign Het
Obscn C T 11: 59,081,984 V2288M probably damaging Het
Olfr1428 C T 19: 12,109,520 V9M possibly damaging Het
Olfr1445 A G 19: 12,884,094 Y71C probably damaging Het
Olfr38 A G 6: 42,762,220 H56R probably damaging Het
Olfr686 A T 7: 105,204,160 M61K probably damaging Het
Otog T A 7: 46,269,249 probably benign Het
Oxa1l A G 14: 54,368,189 E375G possibly damaging Het
Pan2 T A 10: 128,308,222 I129K possibly damaging Het
Parp1 A G 1: 180,599,051 I919M probably benign Het
Pnpla7 T C 2: 24,995,293 Y174H probably damaging Het
Polr3b T C 10: 84,638,064 F169S probably damaging Het
Rab10 T C 12: 3,264,743 D45G probably damaging Het
Reln A G 5: 21,980,109 S1537P possibly damaging Het
Sema6d T A 2: 124,665,277 S1045T probably benign Het
Setd2 T C 9: 110,573,673 V1794A probably damaging Het
Spidr T A 16: 15,915,365 I589F probably damaging Het
Stmn4 A C 14: 66,357,939 I165L probably benign Het
Stx5a T C 19: 8,749,937 M177T probably damaging Het
Tll1 T C 8: 64,038,452 probably null Het
Tmem192 T C 8: 64,964,260 Y168H probably damaging Het
Ttc21a C T 9: 119,956,826 probably benign Het
Ush2a A G 1: 188,714,466 probably benign Het
Vezf1 A G 11: 88,081,577 M255V possibly damaging Het
Vmn2r25 A G 6: 123,839,827 F265S probably damaging Het
Vps13a A G 19: 16,704,577 S1021P probably benign Het
Wfdc16 T C 2: 164,635,853 E92G possibly damaging Het
Zkscan2 T C 7: 123,480,200 T845A possibly damaging Het
Other mutations in Lao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Lao1 APN 4 118968443 missense probably damaging 0.97
IGL02252:Lao1 APN 4 118967416 missense probably benign 0.19
R0139:Lao1 UTSW 4 118964202 missense probably benign 0.06
R0635:Lao1 UTSW 4 118968296 missense probably benign 0.04
R1164:Lao1 UTSW 4 118965405 missense probably benign 0.00
R4465:Lao1 UTSW 4 118965307 missense probably benign 0.10
R4767:Lao1 UTSW 4 118967988 missense probably damaging 1.00
R4950:Lao1 UTSW 4 118965375 missense probably damaging 1.00
R5061:Lao1 UTSW 4 118967476 missense probably benign 0.00
R5488:Lao1 UTSW 4 118967369 missense probably damaging 1.00
R5644:Lao1 UTSW 4 118965236 splice site probably null
R6176:Lao1 UTSW 4 118962000 start codon destroyed probably null 0.40
R6189:Lao1 UTSW 4 118967880 missense probably benign 0.00
R6857:Lao1 UTSW 4 118963826 critical splice donor site probably null
R6859:Lao1 UTSW 4 118963751 missense probably damaging 0.99
R7074:Lao1 UTSW 4 118968185 missense probably damaging 1.00
R7878:Lao1 UTSW 4 118967422 missense probably benign 0.00
R8021:Lao1 UTSW 4 118968477 missense probably damaging 0.99
X0021:Lao1 UTSW 4 118968522 missense probably benign 0.00
Z1176:Lao1 UTSW 4 118968440 missense probably damaging 1.00
Z1177:Lao1 UTSW 4 118968371 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTCTTGCCCTCTATGAGAACC -3'
(R):5'- GGCCCTGAACATACAAGGTAACCTC -3'

Sequencing Primer
(F):5'- CCTCTATGAGAACCTTGTCAAGTG -3'
(R):5'- AAGCTTTCGCCTGGTAGC -3'
Posted On2013-06-12