Incidental Mutation 'R1725:Loxhd1'
ID 198117
Institutional Source Beutler Lab
Gene Symbol Loxhd1
Ensembl Gene ENSMUSG00000032818
Gene Name lipoxygenase homology domains 1
Synonyms 1700096C21Rik, sba
MMRRC Submission 039757-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R1725 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 77369654-77530626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77380937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 85 (S85T)
Ref Sequence ENSEMBL: ENSMUSP00000094294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096547]
AlphaFold C8YR32
Predicted Effect probably benign
Transcript: ENSMUST00000096547
AA Change: S85T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: S85T

DomainStartEndE-ValueType
LH2 43 158 5.64e-5 SMART
LH2 172 290 1.64e-9 SMART
LH2 296 409 1.1e-4 SMART
LH2 425 539 4.02e-4 SMART
LH2 553 675 3.79e-6 SMART
LH2 684 800 5.92e-6 SMART
LH2 814 936 6.91e-8 SMART
low complexity region 945 954 N/A INTRINSIC
LH2 970 1086 4.81e-7 SMART
LH2 1101 1228 5.73e-3 SMART
LH2 1255 1375 8.82e-5 SMART
Pfam:PLAT 1424 1540 5.4e-10 PFAM
LH2 1553 1666 6.41e-3 SMART
LH2 1680 1799 6.76e-6 SMART
Pfam:PLAT 1813 1929 3.8e-9 PFAM
LH2 1949 2067 7.23e-11 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice honozygous for an ENU-induced mutation exhibit hearing loss associated with hair cell and spiral ganglion degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,163 (GRCm39) F109L probably benign Het
Aacs T C 5: 125,559,999 (GRCm39) probably null Het
Abcc6 C A 7: 45,641,781 (GRCm39) D866Y possibly damaging Het
Acox3 T C 5: 35,749,516 (GRCm39) Y214H probably benign Het
Acss2 A G 2: 155,398,764 (GRCm39) T404A possibly damaging Het
Adgrb3 T A 1: 25,865,381 (GRCm39) E154V probably damaging Het
Akap12 G A 10: 4,303,942 (GRCm39) V251M probably damaging Het
Ambp A T 4: 63,062,513 (GRCm39) M242K possibly damaging Het
Angptl7 T G 4: 148,584,469 (GRCm39) Y93S probably damaging Het
Apof A G 10: 128,105,680 (GRCm39) probably benign Het
Arv1 T C 8: 125,455,191 (GRCm39) F135L probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cacna1s C T 1: 136,026,361 (GRCm39) T1116I probably damaging Het
Ccdc91 A G 6: 147,493,541 (GRCm39) E311G unknown Het
Cenpf T C 1: 189,412,676 (GRCm39) T196A probably damaging Het
Chd8 A T 14: 52,470,030 (GRCm39) S527T probably benign Het
Csmd3 A C 15: 47,460,203 (GRCm39) N3529K probably damaging Het
Csnk2a1 T C 2: 152,099,892 (GRCm39) V116A probably damaging Het
Dhx36 T G 3: 62,414,360 (GRCm39) M1L probably benign Het
Diaph3 A G 14: 87,203,759 (GRCm39) probably null Het
Ephb2 G A 4: 136,387,089 (GRCm39) Q714* probably null Het
Eprs1 T A 1: 185,139,189 (GRCm39) L858Q probably damaging Het
Espl1 G T 15: 102,221,656 (GRCm39) V982L probably benign Het
Eya2 A G 2: 165,566,605 (GRCm39) T219A probably benign Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl18 C T 5: 142,872,458 (GRCm39) R259H probably damaging Het
Gcc2 G A 10: 58,139,937 (GRCm39) R1629H possibly damaging Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Krt6a A T 15: 101,600,992 (GRCm39) M268K probably damaging Het
Loxl3 G A 6: 83,012,574 (GRCm39) V38I probably benign Het
Mill2 A G 7: 18,573,993 (GRCm39) D26G probably benign Het
Muc15 T C 2: 110,561,591 (GRCm39) L9S probably damaging Het
Nat8f4 G A 6: 85,878,080 (GRCm39) R148* probably null Het
Nav3 A T 10: 109,659,451 (GRCm39) V722E probably damaging Het
Nfkb1 C A 3: 135,373,519 (GRCm39) G10W probably damaging Het
Or10j5 C T 1: 172,784,908 (GRCm39) P182L possibly damaging Het
Or2ag1 A T 7: 106,313,265 (GRCm39) F208I probably benign Het
Or2t1 T G 14: 14,328,977 (GRCm38) Y289D probably damaging Het
Or5b120 T C 19: 13,479,883 (GRCm39) Y59H probably damaging Het
Pcdhb22 T A 18: 37,653,241 (GRCm39) C313S probably benign Het
Plin4 A G 17: 56,413,473 (GRCm39) L384P probably damaging Het
Pm20d1 T C 1: 131,743,796 (GRCm39) I487T probably damaging Het
Prex1 A T 2: 166,443,656 (GRCm39) D334E probably damaging Het
Psg28 A T 7: 18,161,936 (GRCm39) I189N possibly damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rae1 A G 2: 172,848,754 (GRCm39) I123M possibly damaging Het
Sh3glb2 C A 2: 30,240,679 (GRCm39) E129* probably null Het
Simc1 T C 13: 54,674,219 (GRCm39) S856P probably damaging Het
Slc19a1 T A 10: 76,877,672 (GRCm39) M69K probably benign Het
Slc30a8 A T 15: 52,197,000 (GRCm39) I304F possibly damaging Het
Snx1 A G 9: 66,005,611 (GRCm39) probably null Het
Spmip5 T G 19: 58,781,194 (GRCm39) K10T probably benign Het
Stx18 G A 5: 38,292,599 (GRCm39) V234M probably damaging Het
Sulf2 T C 2: 165,923,281 (GRCm39) T615A probably damaging Het
Sult3a2 T A 10: 33,655,705 (GRCm39) K91N probably benign Het
Tet1 A G 10: 62,650,256 (GRCm39) S22P probably damaging Het
Tmc3 T C 7: 83,253,940 (GRCm39) V362A probably damaging Het
Trim16 A C 11: 62,711,331 (GRCm39) M1L possibly damaging Het
Trp53bp1 C T 2: 121,082,481 (GRCm39) V10I possibly damaging Het
Ttc12 T G 9: 49,369,415 (GRCm39) D235A probably benign Het
Ttn T C 2: 76,692,727 (GRCm39) R452G possibly damaging Het
Ugt2b38 A T 5: 87,559,730 (GRCm39) H387Q probably damaging Het
Usp48 T A 4: 137,360,733 (GRCm39) L20* probably null Het
Utrn T C 10: 12,539,263 (GRCm39) D1918G probably damaging Het
Vmn1r158 A G 7: 22,490,072 (GRCm39) S46P probably benign Het
Vmn2r97 T A 17: 19,149,397 (GRCm39) W262R probably benign Het
Vps13d A T 4: 144,869,830 (GRCm39) S1917T possibly damaging Het
Vsx1 T C 2: 150,528,120 (GRCm39) N158D probably benign Het
Vwf G A 6: 125,623,245 (GRCm39) V1781I probably benign Het
Wrap73 T C 4: 154,233,209 (GRCm39) Y128H possibly damaging Het
Zfp472 A G 17: 33,196,311 (GRCm39) K129E possibly damaging Het
Zscan18 A T 7: 12,504,784 (GRCm39) L611Q probably damaging Het
Other mutations in Loxhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Loxhd1 APN 18 77,483,146 (GRCm39) missense probably damaging 0.99
IGL00490:Loxhd1 APN 18 77,518,770 (GRCm39) missense possibly damaging 0.94
IGL00507:Loxhd1 APN 18 77,420,263 (GRCm39) missense probably benign 0.03
IGL00546:Loxhd1 APN 18 77,493,672 (GRCm39) missense probably damaging 0.97
IGL01369:Loxhd1 APN 18 77,416,897 (GRCm39) missense possibly damaging 0.85
IGL01767:Loxhd1 APN 18 77,374,120 (GRCm39) missense possibly damaging 0.71
IGL02245:Loxhd1 APN 18 77,427,797 (GRCm39) missense possibly damaging 0.71
IGL02388:Loxhd1 APN 18 77,456,833 (GRCm39) missense probably benign 0.18
IGL02410:Loxhd1 APN 18 77,490,648 (GRCm39) missense probably benign 0.02
IGL02593:Loxhd1 APN 18 77,498,235 (GRCm39) missense possibly damaging 0.91
IGL02632:Loxhd1 APN 18 77,493,628 (GRCm39) missense probably damaging 0.99
IGL02692:Loxhd1 APN 18 77,444,609 (GRCm39) missense probably damaging 0.99
IGL02796:Loxhd1 APN 18 77,456,811 (GRCm39) splice site probably benign
IGL03032:Loxhd1 APN 18 77,374,169 (GRCm39) missense possibly damaging 0.93
IGL03074:Loxhd1 APN 18 77,529,480 (GRCm39) missense possibly damaging 0.75
IGL03094:Loxhd1 APN 18 77,518,809 (GRCm39) missense possibly damaging 0.88
IGL03118:Loxhd1 APN 18 77,468,160 (GRCm39) missense probably damaging 1.00
IGL03232:Loxhd1 APN 18 77,496,446 (GRCm39) missense probably damaging 1.00
IGL03377:Loxhd1 APN 18 77,529,369 (GRCm39) missense possibly damaging 0.91
H8562:Loxhd1 UTSW 18 77,429,627 (GRCm39) missense possibly damaging 0.93
PIT4494001:Loxhd1 UTSW 18 77,529,464 (GRCm39) missense probably damaging 0.99
R0003:Loxhd1 UTSW 18 77,427,196 (GRCm39) missense probably damaging 0.98
R0003:Loxhd1 UTSW 18 77,427,196 (GRCm39) missense probably damaging 0.98
R0048:Loxhd1 UTSW 18 77,496,474 (GRCm39) missense probably damaging 0.99
R0049:Loxhd1 UTSW 18 77,468,256 (GRCm39) splice site probably benign
R0049:Loxhd1 UTSW 18 77,468,256 (GRCm39) splice site probably benign
R0206:Loxhd1 UTSW 18 77,492,562 (GRCm39) missense possibly damaging 0.90
R0206:Loxhd1 UTSW 18 77,492,562 (GRCm39) missense possibly damaging 0.90
R0208:Loxhd1 UTSW 18 77,492,562 (GRCm39) missense possibly damaging 0.90
R0323:Loxhd1 UTSW 18 77,456,833 (GRCm39) missense probably benign 0.18
R0332:Loxhd1 UTSW 18 77,471,526 (GRCm39) splice site probably null
R0367:Loxhd1 UTSW 18 77,513,453 (GRCm39) splice site probably benign
R0709:Loxhd1 UTSW 18 77,492,665 (GRCm39) missense probably benign 0.23
R0783:Loxhd1 UTSW 18 77,517,680 (GRCm39) missense possibly damaging 0.58
R1132:Loxhd1 UTSW 18 77,517,639 (GRCm39) missense possibly damaging 0.71
R1232:Loxhd1 UTSW 18 77,493,699 (GRCm39) critical splice donor site probably null
R1331:Loxhd1 UTSW 18 77,490,632 (GRCm39) missense possibly damaging 0.86
R1465:Loxhd1 UTSW 18 77,468,269 (GRCm39) splice site probably null
R1465:Loxhd1 UTSW 18 77,468,269 (GRCm39) splice site probably null
R1501:Loxhd1 UTSW 18 77,444,528 (GRCm39) missense probably damaging 1.00
R1640:Loxhd1 UTSW 18 77,490,259 (GRCm39) missense probably damaging 1.00
R1656:Loxhd1 UTSW 18 77,409,364 (GRCm39) missense possibly damaging 0.71
R1671:Loxhd1 UTSW 18 77,492,498 (GRCm39) missense probably damaging 1.00
R1735:Loxhd1 UTSW 18 77,492,585 (GRCm39) missense probably damaging 0.98
R1796:Loxhd1 UTSW 18 77,513,335 (GRCm39) missense possibly damaging 0.88
R1796:Loxhd1 UTSW 18 77,493,603 (GRCm39) missense probably damaging 0.96
R1800:Loxhd1 UTSW 18 77,490,198 (GRCm39) missense probably damaging 1.00
R1848:Loxhd1 UTSW 18 77,369,667 (GRCm39) missense possibly damaging 0.53
R1912:Loxhd1 UTSW 18 77,427,833 (GRCm39) missense probably benign 0.32
R1945:Loxhd1 UTSW 18 77,492,504 (GRCm39) missense probably damaging 1.00
R1978:Loxhd1 UTSW 18 77,409,338 (GRCm39) missense possibly damaging 0.86
R1997:Loxhd1 UTSW 18 77,383,465 (GRCm39) missense probably damaging 0.98
R2086:Loxhd1 UTSW 18 77,472,642 (GRCm39) missense probably damaging 1.00
R2153:Loxhd1 UTSW 18 77,443,862 (GRCm39) missense possibly damaging 0.72
R3124:Loxhd1 UTSW 18 77,518,774 (GRCm39) missense probably damaging 0.97
R3896:Loxhd1 UTSW 18 77,469,719 (GRCm39) missense possibly damaging 0.65
R3907:Loxhd1 UTSW 18 77,496,464 (GRCm39) missense possibly damaging 0.60
R3980:Loxhd1 UTSW 18 77,501,855 (GRCm39) missense probably damaging 1.00
R4165:Loxhd1 UTSW 18 77,460,025 (GRCm39) missense probably damaging 0.99
R4166:Loxhd1 UTSW 18 77,460,025 (GRCm39) missense probably damaging 0.99
R4176:Loxhd1 UTSW 18 77,418,755 (GRCm39) missense possibly damaging 0.53
R4345:Loxhd1 UTSW 18 77,486,697 (GRCm39) missense possibly damaging 0.89
R4354:Loxhd1 UTSW 18 77,483,123 (GRCm39) missense probably damaging 1.00
R4385:Loxhd1 UTSW 18 77,460,607 (GRCm39) missense probably damaging 0.99
R4402:Loxhd1 UTSW 18 77,529,456 (GRCm39) missense possibly damaging 0.94
R4404:Loxhd1 UTSW 18 77,518,828 (GRCm39) missense probably damaging 1.00
R4456:Loxhd1 UTSW 18 77,486,785 (GRCm39) missense probably damaging 1.00
R4525:Loxhd1 UTSW 18 77,444,608 (GRCm39) missense probably damaging 0.98
R4605:Loxhd1 UTSW 18 77,493,642 (GRCm39) missense probably benign 0.00
R4661:Loxhd1 UTSW 18 77,490,581 (GRCm39) missense possibly damaging 0.79
R4698:Loxhd1 UTSW 18 77,459,987 (GRCm39) missense possibly damaging 0.82
R4725:Loxhd1 UTSW 18 77,483,153 (GRCm39) missense probably damaging 1.00
R4820:Loxhd1 UTSW 18 77,472,663 (GRCm39) missense probably damaging 1.00
R5163:Loxhd1 UTSW 18 77,449,432 (GRCm39) missense possibly damaging 0.92
R5288:Loxhd1 UTSW 18 77,451,308 (GRCm39) missense probably damaging 1.00
R5328:Loxhd1 UTSW 18 77,498,268 (GRCm39) missense probably damaging 1.00
R5329:Loxhd1 UTSW 18 77,420,378 (GRCm39) missense probably damaging 0.98
R5347:Loxhd1 UTSW 18 77,454,237 (GRCm39) missense probably damaging 1.00
R5589:Loxhd1 UTSW 18 77,429,751 (GRCm39) missense possibly damaging 0.86
R5616:Loxhd1 UTSW 18 77,492,647 (GRCm39) missense probably damaging 1.00
R5703:Loxhd1 UTSW 18 77,444,573 (GRCm39) missense probably damaging 1.00
R5837:Loxhd1 UTSW 18 77,374,105 (GRCm39) missense possibly damaging 0.71
R5888:Loxhd1 UTSW 18 77,490,211 (GRCm39) missense probably damaging 0.99
R6021:Loxhd1 UTSW 18 77,499,946 (GRCm39) missense probably damaging 1.00
R6032:Loxhd1 UTSW 18 77,469,254 (GRCm39) missense probably damaging 1.00
R6032:Loxhd1 UTSW 18 77,469,254 (GRCm39) missense probably damaging 1.00
R6153:Loxhd1 UTSW 18 77,383,454 (GRCm39) missense possibly damaging 0.71
R6174:Loxhd1 UTSW 18 77,499,874 (GRCm39) missense probably damaging 1.00
R6265:Loxhd1 UTSW 18 77,449,426 (GRCm39) missense probably damaging 0.99
R6377:Loxhd1 UTSW 18 77,468,128 (GRCm39) missense probably damaging 1.00
R6530:Loxhd1 UTSW 18 77,499,847 (GRCm39) missense probably benign 0.30
R6555:Loxhd1 UTSW 18 77,380,965 (GRCm39) missense possibly damaging 0.51
R6782:Loxhd1 UTSW 18 77,518,873 (GRCm39) missense probably damaging 0.99
R6834:Loxhd1 UTSW 18 77,529,222 (GRCm39) missense probably damaging 1.00
R7000:Loxhd1 UTSW 18 77,460,129 (GRCm39) critical splice donor site probably null
R7112:Loxhd1 UTSW 18 77,476,210 (GRCm39) missense probably damaging 1.00
R7203:Loxhd1 UTSW 18 77,501,892 (GRCm39) missense probably damaging 0.97
R7206:Loxhd1 UTSW 18 77,529,513 (GRCm39) missense probably damaging 0.97
R7260:Loxhd1 UTSW 18 77,420,338 (GRCm39) missense possibly damaging 0.93
R7432:Loxhd1 UTSW 18 77,383,547 (GRCm39) missense possibly damaging 0.51
R7475:Loxhd1 UTSW 18 77,500,001 (GRCm39) missense possibly damaging 0.83
R7555:Loxhd1 UTSW 18 77,483,061 (GRCm39) missense probably damaging 0.99
R7590:Loxhd1 UTSW 18 77,409,330 (GRCm39) missense possibly damaging 0.84
R7612:Loxhd1 UTSW 18 77,517,671 (GRCm39) missense possibly damaging 0.95
R7626:Loxhd1 UTSW 18 77,518,882 (GRCm39) missense possibly damaging 0.75
R7768:Loxhd1 UTSW 18 77,472,637 (GRCm39) missense probably damaging 0.99
R7791:Loxhd1 UTSW 18 77,471,425 (GRCm39) missense probably damaging 1.00
R7829:Loxhd1 UTSW 18 77,496,483 (GRCm39) missense probably damaging 0.99
R7884:Loxhd1 UTSW 18 77,518,909 (GRCm39) missense probably damaging 0.98
R7960:Loxhd1 UTSW 18 77,472,746 (GRCm39) missense probably damaging 0.99
R7986:Loxhd1 UTSW 18 77,462,890 (GRCm39) missense possibly damaging 0.88
R8042:Loxhd1 UTSW 18 77,518,888 (GRCm39) missense probably damaging 0.99
R8084:Loxhd1 UTSW 18 77,427,845 (GRCm39) missense possibly damaging 0.71
R8088:Loxhd1 UTSW 18 77,429,709 (GRCm39) missense possibly damaging 0.52
R8100:Loxhd1 UTSW 18 77,492,512 (GRCm39) missense possibly damaging 0.69
R8139:Loxhd1 UTSW 18 77,468,192 (GRCm39) missense possibly damaging 0.95
R8152:Loxhd1 UTSW 18 77,476,095 (GRCm39) missense possibly damaging 0.62
R8199:Loxhd1 UTSW 18 77,469,334 (GRCm39) missense possibly damaging 0.77
R8246:Loxhd1 UTSW 18 77,451,242 (GRCm39) missense possibly damaging 0.71
R8263:Loxhd1 UTSW 18 77,462,858 (GRCm39) missense probably damaging 1.00
R8324:Loxhd1 UTSW 18 77,427,275 (GRCm39) critical splice donor site probably null
R8342:Loxhd1 UTSW 18 77,493,681 (GRCm39) missense possibly damaging 0.88
R8401:Loxhd1 UTSW 18 77,468,156 (GRCm39) missense probably damaging 1.00
R8480:Loxhd1 UTSW 18 77,518,827 (GRCm39) missense probably damaging 1.00
R8490:Loxhd1 UTSW 18 77,529,162 (GRCm39) missense possibly damaging 0.96
R8807:Loxhd1 UTSW 18 77,444,468 (GRCm39) missense possibly damaging 0.93
R8961:Loxhd1 UTSW 18 77,472,765 (GRCm39) missense probably damaging 1.00
R8974:Loxhd1 UTSW 18 77,518,899 (GRCm39) missense possibly damaging 0.88
R9079:Loxhd1 UTSW 18 77,490,593 (GRCm39) missense probably benign
R9284:Loxhd1 UTSW 18 77,501,826 (GRCm39) missense probably damaging 0.97
R9312:Loxhd1 UTSW 18 77,498,285 (GRCm39) missense probably benign 0.05
R9619:Loxhd1 UTSW 18 77,443,871 (GRCm39) missense probably benign 0.32
X0020:Loxhd1 UTSW 18 77,427,258 (GRCm39) nonsense probably null
X0024:Loxhd1 UTSW 18 77,483,099 (GRCm39) missense probably damaging 1.00
X0062:Loxhd1 UTSW 18 77,529,212 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTTGGTGACTCATGCCAATG -3'
(R):5'- TTGGGCAGCCAGTGATACTGAAC -3'

Sequencing Primer
(F):5'- GTGACTCATGCCAATGCTTAG -3'
(R):5'- GCCAGTGATACTGAACATCAAG -3'
Posted On 2014-05-23