Phenotypic Mutation 'sooty' (pdf version)
Allele | sooty |
Mutation Type |
|
Chromosome | 13 |
Coordinate | |
Base Change | |
Gene |
Lyst
|
Gene Name | lysosomal trafficking regulator |
Synonym(s) | D13Sfk13 |
Chromosomal Location |
13,764,982-13,953,388 bp (+) (GRCm39)
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013] PHENOTYPE: Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells. [provided by MGI curators]
|
Accession Number | NCBI RefSeq: NM_010748; MGI: 107448 |
Mapped | Yes |
Amino Acid Change |
|
Institutional Source | Beutler Lab |
Ref Sequences |
Ensembl: ENSMUSP00000106188
( fasta)
|
Gene Model |
not available |
AlphaFold |
no structure available at present |
SMART Domains |
|
Meta Mutation Damage Score |
Not available |
Is this an essential gene? |
Possibly nonessential (E-score: 0.414) |
Phenotypic Category |
Autosomal Recessive |
Candidate Explorer Status |
loading ... |
Single pedigree Linkage Analysis Data
|
|
Penetrance | 100% |
Alleles Listed at MGI | All alleles(45) : Gene trapped(30) Spontaneous(8) Chemically induced(6) Radiation induced(1) |
Lab Alleles |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Lyst
|
APN |
13 |
13823463 |
missense |
probably benign |
|
IGL00474:Lyst
|
APN |
13 |
13818121 |
missense |
possibly damaging |
0.48 |
IGL00484:Lyst
|
APN |
13 |
13884188 |
missense |
probably benign |
0.02 |
IGL00492:Lyst
|
APN |
13 |
13852760 |
missense |
possibly damaging |
0.54 |
IGL00807:Lyst
|
APN |
13 |
13825008 |
missense |
possibly damaging |
0.91 |
IGL00949:Lyst
|
APN |
13 |
13810070 |
missense |
possibly damaging |
0.87 |
IGL00952:Lyst
|
APN |
13 |
13852692 |
missense |
probably benign |
0.05 |
IGL01305:Lyst
|
APN |
13 |
13852641 |
missense |
probably benign |
0.01 |
IGL01317:Lyst
|
APN |
13 |
13845455 |
missense |
probably benign |
|
IGL01419:Lyst
|
APN |
13 |
13810423 |
missense |
probably benign |
0.00 |
IGL01445:Lyst
|
APN |
13 |
13826299 |
missense |
probably benign |
0.00 |
IGL01690:Lyst
|
APN |
13 |
13917831 |
missense |
probably damaging |
1.00 |
IGL01791:Lyst
|
APN |
13 |
13809887 |
missense |
probably damaging |
1.00 |
IGL01809:Lyst
|
APN |
13 |
13812388 |
missense |
probably damaging |
1.00 |
IGL01896:Lyst
|
APN |
13 |
13810162 |
missense |
probably benign |
0.04 |
IGL01938:Lyst
|
APN |
13 |
13812009 |
missense |
possibly damaging |
0.93 |
IGL01986:Lyst
|
APN |
13 |
13950212 |
critical splice donor site |
probably null |
|
IGL02022:Lyst
|
APN |
13 |
13838629 |
nonsense |
probably null |
|
IGL02044:Lyst
|
APN |
13 |
13887431 |
missense |
probably damaging |
1.00 |
IGL02157:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02185:Lyst
|
APN |
13 |
13835678 |
nonsense |
probably null |
|
IGL02215:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02245:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02246:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02247:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02297:Lyst
|
APN |
13 |
13812677 |
nonsense |
probably null |
|
IGL02411:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02415:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02419:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02420:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02429:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02501:Lyst
|
APN |
13 |
13886230 |
missense |
probably benign |
0.02 |
IGL02522:Lyst
|
APN |
13 |
13809290 |
missense |
possibly damaging |
0.81 |
IGL02535:Lyst
|
APN |
13 |
13824927 |
missense |
probably benign |
0.00 |
IGL02596:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02601:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02603:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02608:Lyst
|
APN |
13 |
13887339 |
missense |
probably damaging |
0.98 |
IGL02622:Lyst
|
APN |
13 |
13855975 |
missense |
probably damaging |
1.00 |
IGL02690:Lyst
|
APN |
13 |
13815710 |
missense |
possibly damaging |
0.58 |
IGL02715:Lyst
|
APN |
13 |
13848905 |
splice site |
probably null |
|
IGL02725:Lyst
|
APN |
13 |
13935412 |
missense |
probably damaging |
1.00 |
IGL02729:Lyst
|
APN |
13 |
13921194 |
missense |
possibly damaging |
0.95 |
IGL02729:Lyst
|
APN |
13 |
13848924 |
missense |
possibly damaging |
0.81 |
IGL02820:Lyst
|
APN |
13 |
13812643 |
missense |
probably benign |
0.03 |
IGL02945:Lyst
|
APN |
13 |
13935783 |
missense |
possibly damaging |
0.48 |
IGL02981:Lyst
|
APN |
13 |
13809496 |
missense |
probably damaging |
0.99 |
IGL03087:Lyst
|
APN |
13 |
13809641 |
missense |
probably damaging |
1.00 |
IGL03149:Lyst
|
APN |
13 |
13856029 |
missense |
probably benign |
0.14 |
IGL03158:Lyst
|
APN |
13 |
13826337 |
critical splice donor site |
probably null |
|
IGL03226:Lyst
|
APN |
13 |
13884144 |
missense |
probably benign |
0.01 |
IGL03242:Lyst
|
APN |
13 |
13831466 |
nonsense |
probably null |
|
IGL03385:Lyst
|
APN |
13 |
13831565 |
nonsense |
probably null |
|
50-cal
|
UTSW |
13 |
13882797 |
critical splice donor site |
probably null |
|
charcoal
|
UTSW |
13 |
13871346 |
nonsense |
probably null |
|
charlotte_gray
|
UTSW |
13 |
13602026 |
intron |
probably benign |
|
charzard
|
UTSW |
13 |
13821668 |
nonsense |
probably null |
|
grey_wolf
|
UTSW |
13 |
|
unclassified |
|
|
lightspeed
|
UTSW |
13 |
13915121 |
missense |
possibly damaging |
0.91 |
pardon
|
UTSW |
13 |
13852537 |
missense |
probably benign |
0.00 |
robin
|
UTSW |
13 |
13823387 |
nonsense |
probably null |
|
souris
|
UTSW |
13 |
13857808 |
unclassified |
probably benign |
|
Swallow
|
UTSW |
13 |
13932007 |
missense |
probably benign |
0.00 |
vulpix
|
UTSW |
13 |
13871379 |
splice site |
probably null |
|
ANU22:Lyst
|
UTSW |
13 |
13852641 |
missense |
probably benign |
0.01 |
IGL02835:Lyst
|
UTSW |
13 |
13835685 |
missense |
possibly damaging |
0.82 |
P0031:Lyst
|
UTSW |
13 |
13838616 |
missense |
probably damaging |
1.00 |
R0012:Lyst
|
UTSW |
13 |
13862279 |
missense |
probably benign |
0.10 |
R0012:Lyst
|
UTSW |
13 |
13862279 |
missense |
probably benign |
0.10 |
R0031:Lyst
|
UTSW |
13 |
13882741 |
missense |
probably benign |
0.14 |
R0115:Lyst
|
UTSW |
13 |
13852537 |
missense |
probably benign |
0.00 |
R0212:Lyst
|
UTSW |
13 |
13810570 |
missense |
possibly damaging |
0.93 |
R0386:Lyst
|
UTSW |
13 |
13882799 |
splice site |
probably benign |
|
R0393:Lyst
|
UTSW |
13 |
13821664 |
missense |
probably benign |
0.01 |
R0415:Lyst
|
UTSW |
13 |
13886195 |
splice site |
probably benign |
|
R0446:Lyst
|
UTSW |
13 |
13812633 |
missense |
probably benign |
0.00 |
R0481:Lyst
|
UTSW |
13 |
13852537 |
missense |
probably benign |
0.00 |
R0499:Lyst
|
UTSW |
13 |
13791298 |
missense |
probably damaging |
1.00 |
R0506:Lyst
|
UTSW |
13 |
13812600 |
missense |
probably benign |
|
R0530:Lyst
|
UTSW |
13 |
13931891 |
splice site |
probably benign |
|
R0541:Lyst
|
UTSW |
13 |
13855878 |
missense |
probably benign |
0.00 |
R0570:Lyst
|
UTSW |
13 |
13883971 |
missense |
probably benign |
0.26 |
R0680:Lyst
|
UTSW |
13 |
13824926 |
missense |
probably benign |
0.01 |
R0842:Lyst
|
UTSW |
13 |
13852826 |
nonsense |
probably null |
|
R0848:Lyst
|
UTSW |
13 |
13809515 |
missense |
probably benign |
0.00 |
R1014:Lyst
|
UTSW |
13 |
13808645 |
missense |
possibly damaging |
0.49 |
R1205:Lyst
|
UTSW |
13 |
13854787 |
missense |
probably benign |
|
R1251:Lyst
|
UTSW |
13 |
13809068 |
missense |
probably benign |
0.00 |
R1304:Lyst
|
UTSW |
13 |
13926569 |
nonsense |
probably null |
|
R1398:Lyst
|
UTSW |
13 |
13915121 |
missense |
possibly damaging |
0.91 |
R1445:Lyst
|
UTSW |
13 |
13814639 |
missense |
possibly damaging |
0.94 |
R1475:Lyst
|
UTSW |
13 |
13882797 |
critical splice donor site |
probably null |
|
R1479:Lyst
|
UTSW |
13 |
13809067 |
missense |
probably benign |
0.00 |
R1484:Lyst
|
UTSW |
13 |
13852775 |
missense |
probably benign |
0.01 |
R1498:Lyst
|
UTSW |
13 |
13824960 |
missense |
possibly damaging |
0.49 |
R1540:Lyst
|
UTSW |
13 |
13809686 |
missense |
possibly damaging |
0.81 |
R1611:Lyst
|
UTSW |
13 |
13809482 |
missense |
probably damaging |
0.97 |
R1653:Lyst
|
UTSW |
13 |
13809811 |
missense |
probably damaging |
1.00 |
R1669:Lyst
|
UTSW |
13 |
13818672 |
missense |
possibly damaging |
0.90 |
R1686:Lyst
|
UTSW |
13 |
13809290 |
missense |
possibly damaging |
0.81 |
R1694:Lyst
|
UTSW |
13 |
13835746 |
missense |
probably damaging |
0.98 |
R1747:Lyst
|
UTSW |
13 |
13932007 |
missense |
probably benign |
0.00 |
R1793:Lyst
|
UTSW |
13 |
13821668 |
nonsense |
probably null |
|
R1871:Lyst
|
UTSW |
13 |
13826297 |
missense |
probably benign |
0.00 |
R1905:Lyst
|
UTSW |
13 |
13808719 |
missense |
probably benign |
|
R1958:Lyst
|
UTSW |
13 |
13791203 |
missense |
probably damaging |
1.00 |
R1969:Lyst
|
UTSW |
13 |
13904929 |
missense |
probably damaging |
0.99 |
R2040:Lyst
|
UTSW |
13 |
13815807 |
missense |
probably benign |
0.00 |
R2109:Lyst
|
UTSW |
13 |
13887405 |
missense |
possibly damaging |
0.46 |
R2116:Lyst
|
UTSW |
13 |
13810286 |
missense |
probably damaging |
0.99 |
R2121:Lyst
|
UTSW |
13 |
13835556 |
missense |
probably damaging |
1.00 |
R2127:Lyst
|
UTSW |
13 |
13809847 |
missense |
probably damaging |
1.00 |
R2187:Lyst
|
UTSW |
13 |
13883926 |
missense |
possibly damaging |
0.61 |
R2238:Lyst
|
UTSW |
13 |
13917848 |
missense |
probably benign |
0.41 |
R2258:Lyst
|
UTSW |
13 |
13812243 |
missense |
probably benign |
0.00 |
R2292:Lyst
|
UTSW |
13 |
13915080 |
missense |
probably damaging |
1.00 |
R2368:Lyst
|
UTSW |
13 |
13871248 |
missense |
probably damaging |
0.96 |
R2908:Lyst
|
UTSW |
13 |
13844458 |
missense |
probably benign |
0.03 |
R3001:Lyst
|
UTSW |
13 |
13871290 |
missense |
probably benign |
|
R3002:Lyst
|
UTSW |
13 |
13871290 |
missense |
probably benign |
|
R3024:Lyst
|
UTSW |
13 |
13833272 |
missense |
probably benign |
|
R3113:Lyst
|
UTSW |
13 |
13844512 |
missense |
probably benign |
0.12 |
R3406:Lyst
|
UTSW |
13 |
13809815 |
missense |
possibly damaging |
0.56 |
R3972:Lyst
|
UTSW |
13 |
13881210 |
missense |
possibly damaging |
0.67 |
R3978:Lyst
|
UTSW |
13 |
13808753 |
missense |
possibly damaging |
0.82 |
R4032:Lyst
|
UTSW |
13 |
13791250 |
missense |
probably damaging |
1.00 |
R4192:Lyst
|
UTSW |
13 |
13915098 |
missense |
probably damaging |
1.00 |
R4206:Lyst
|
UTSW |
13 |
13810574 |
missense |
probably benign |
0.03 |
R4298:Lyst
|
UTSW |
13 |
13809472 |
missense |
probably damaging |
1.00 |
R4344:Lyst
|
UTSW |
13 |
13873051 |
missense |
probably benign |
0.06 |
R4441:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4445:Lyst
|
UTSW |
13 |
13884149 |
missense |
probably benign |
0.42 |
R4477:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4493:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4494:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4495:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4622:Lyst
|
UTSW |
13 |
13848983 |
missense |
probably benign |
0.01 |
R4638:Lyst
|
UTSW |
13 |
13871379 |
splice site |
probably null |
|
R4658:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4675:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4719:Lyst
|
UTSW |
13 |
13824935 |
missense |
probably benign |
|
R4729:Lyst
|
UTSW |
13 |
13812486 |
missense |
probably damaging |
1.00 |
R4774:Lyst
|
UTSW |
13 |
13915182 |
missense |
probably damaging |
1.00 |
R4811:Lyst
|
UTSW |
13 |
13951685 |
missense |
probably benign |
0.33 |
R4877:Lyst
|
UTSW |
13 |
13857734 |
missense |
probably damaging |
1.00 |
R4920:Lyst
|
UTSW |
13 |
13821645 |
missense |
possibly damaging |
0.79 |
R4933:Lyst
|
UTSW |
13 |
13933963 |
missense |
probably benign |
0.12 |
R4933:Lyst
|
UTSW |
13 |
13812349 |
missense |
probably damaging |
0.98 |
R4958:Lyst
|
UTSW |
13 |
13810048 |
missense |
probably benign |
0.00 |
R4982:Lyst
|
UTSW |
13 |
13900539 |
missense |
probably damaging |
1.00 |
R4992:Lyst
|
UTSW |
13 |
13835748 |
missense |
probably damaging |
1.00 |
R5024:Lyst
|
UTSW |
13 |
13808989 |
missense |
probably benign |
|
R5049:Lyst
|
UTSW |
13 |
13810649 |
missense |
probably damaging |
1.00 |
R5079:Lyst
|
UTSW |
13 |
13931938 |
missense |
probably benign |
0.08 |
R5254:Lyst
|
UTSW |
13 |
13857655 |
missense |
probably benign |
0.00 |
R5266:Lyst
|
UTSW |
13 |
13835555 |
missense |
probably damaging |
1.00 |
R5279:Lyst
|
UTSW |
13 |
13823387 |
nonsense |
probably null |
|
R5285:Lyst
|
UTSW |
13 |
13809011 |
missense |
probably benign |
0.01 |
R5364:Lyst
|
UTSW |
13 |
13831439 |
missense |
probably benign |
0.35 |
R5435:Lyst
|
UTSW |
13 |
13951649 |
missense |
possibly damaging |
0.64 |
R5516:Lyst
|
UTSW |
13 |
13818707 |
missense |
probably benign |
0.10 |
R5524:Lyst
|
UTSW |
13 |
13921364 |
missense |
probably benign |
0.03 |
R5591:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5592:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5593:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5594:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5594:Lyst
|
UTSW |
13 |
13933982 |
missense |
probably benign |
0.00 |
R5644:Lyst
|
UTSW |
13 |
13812081 |
missense |
possibly damaging |
0.58 |
R5659:Lyst
|
UTSW |
13 |
13809212 |
missense |
possibly damaging |
0.58 |
R5741:Lyst
|
UTSW |
13 |
13808615 |
missense |
probably benign |
0.44 |
R5908:Lyst
|
UTSW |
13 |
13871346 |
nonsense |
probably null |
|
R5969:Lyst
|
UTSW |
13 |
13862398 |
splice site |
probably null |
|
R6128:Lyst
|
UTSW |
13 |
13933964 |
missense |
possibly damaging |
0.67 |
R6271:Lyst
|
UTSW |
13 |
13833339 |
missense |
probably benign |
0.30 |
R6315:Lyst
|
UTSW |
13 |
13818089 |
missense |
probably benign |
|
R6318:Lyst
|
UTSW |
13 |
13917896 |
missense |
possibly damaging |
0.88 |
R6555:Lyst
|
UTSW |
13 |
13823510 |
missense |
probably benign |
0.01 |
R6663:Lyst
|
UTSW |
13 |
13838701 |
splice site |
probably null |
|
R6701:Lyst
|
UTSW |
13 |
13856070 |
missense |
probably benign |
0.06 |
R6711:Lyst
|
UTSW |
13 |
13809820 |
missense |
possibly damaging |
0.80 |
R6909:Lyst
|
UTSW |
13 |
13917960 |
missense |
probably damaging |
1.00 |
R6915:Lyst
|
UTSW |
13 |
13900629 |
missense |
probably benign |
0.01 |
R6929:Lyst
|
UTSW |
13 |
13917909 |
missense |
probably damaging |
1.00 |
R6960:Lyst
|
UTSW |
13 |
13808663 |
missense |
probably benign |
0.12 |
R7018:Lyst
|
UTSW |
13 |
13918044 |
critical splice donor site |
probably null |
|
R7037:Lyst
|
UTSW |
13 |
13791251 |
missense |
probably damaging |
1.00 |
R7045:Lyst
|
UTSW |
13 |
13812293 |
missense |
probably damaging |
1.00 |
R7045:Lyst
|
UTSW |
13 |
13809485 |
missense |
probably benign |
0.34 |
R7070:Lyst
|
UTSW |
13 |
13932029 |
missense |
probably benign |
0.23 |
R7188:Lyst
|
UTSW |
13 |
13926675 |
missense |
possibly damaging |
0.66 |
R7201:Lyst
|
UTSW |
13 |
13883885 |
nonsense |
probably null |
|
R7210:Lyst
|
UTSW |
13 |
13831568 |
missense |
probably damaging |
1.00 |
R7229:Lyst
|
UTSW |
13 |
13818094 |
missense |
probably benign |
0.00 |
R7293:Lyst
|
UTSW |
13 |
13854822 |
missense |
probably benign |
0.01 |
R7318:Lyst
|
UTSW |
13 |
13932028 |
missense |
probably benign |
0.13 |
R7344:Lyst
|
UTSW |
13 |
13881140 |
missense |
probably benign |
|
R7426:Lyst
|
UTSW |
13 |
13812109 |
missense |
probably benign |
|
R7522:Lyst
|
UTSW |
13 |
13821668 |
nonsense |
probably null |
|
R7583:Lyst
|
UTSW |
13 |
13810472 |
missense |
probably damaging |
1.00 |
R7606:Lyst
|
UTSW |
13 |
13812060 |
missense |
probably damaging |
1.00 |
R7636:Lyst
|
UTSW |
13 |
13791332 |
critical splice donor site |
probably null |
|
R7658:Lyst
|
UTSW |
13 |
13905061 |
missense |
possibly damaging |
0.63 |
R7685:Lyst
|
UTSW |
13 |
13844450 |
missense |
probably benign |
0.00 |
R7689:Lyst
|
UTSW |
13 |
13857808 |
critical splice donor site |
probably null |
|
R7765:Lyst
|
UTSW |
13 |
13884117 |
missense |
possibly damaging |
0.75 |
R7779:Lyst
|
UTSW |
13 |
13809128 |
missense |
probably damaging |
1.00 |
R7871:Lyst
|
UTSW |
13 |
13810637 |
nonsense |
probably null |
|
R7872:Lyst
|
UTSW |
13 |
13810450 |
missense |
probably benign |
0.14 |
R7884:Lyst
|
UTSW |
13 |
13882268 |
missense |
probably benign |
0.09 |
R7890:Lyst
|
UTSW |
13 |
13915154 |
missense |
probably damaging |
0.99 |
R7916:Lyst
|
UTSW |
13 |
13821657 |
missense |
possibly damaging |
0.64 |
R7948:Lyst
|
UTSW |
13 |
13921174 |
missense |
possibly damaging |
0.59 |
R7956:Lyst
|
UTSW |
13 |
13815788 |
missense |
possibly damaging |
0.80 |
R8048:Lyst
|
UTSW |
13 |
13862230 |
missense |
probably benign |
0.12 |
R8085:Lyst
|
UTSW |
13 |
13808894 |
missense |
probably damaging |
0.98 |
R8165:Lyst
|
UTSW |
13 |
13872945 |
missense |
probably damaging |
0.99 |
R8235:Lyst
|
UTSW |
13 |
13935323 |
missense |
possibly damaging |
0.69 |
R8237:Lyst
|
UTSW |
13 |
13826317 |
missense |
probably benign |
0.00 |
R8275:Lyst
|
UTSW |
13 |
13950667 |
missense |
probably benign |
0.02 |
R8300:Lyst
|
UTSW |
13 |
13838643 |
missense |
possibly damaging |
0.79 |
R8350:Lyst
|
UTSW |
13 |
13824973 |
nonsense |
probably null |
|
R8526:Lyst
|
UTSW |
13 |
13935391 |
missense |
probably damaging |
0.99 |
R8551:Lyst
|
UTSW |
13 |
13808645 |
missense |
possibly damaging |
0.77 |
R8723:Lyst
|
UTSW |
13 |
13887342 |
missense |
possibly damaging |
0.89 |
R8772:Lyst
|
UTSW |
13 |
13812077 |
nonsense |
probably null |
|
R8778:Lyst
|
UTSW |
13 |
13903152 |
missense |
possibly damaging |
0.89 |
R8778:Lyst
|
UTSW |
13 |
13810361 |
missense |
possibly damaging |
0.89 |
R8801:Lyst
|
UTSW |
13 |
13835595 |
missense |
probably benign |
0.10 |
R8837:Lyst
|
UTSW |
13 |
13852548 |
missense |
probably benign |
|
R8874:Lyst
|
UTSW |
13 |
13812147 |
missense |
probably benign |
|
R8878:Lyst
|
UTSW |
13 |
13815661 |
missense |
probably benign |
0.00 |
R8891:Lyst
|
UTSW |
13 |
13887435 |
missense |
possibly damaging |
0.67 |
R9077:Lyst
|
UTSW |
13 |
13857693 |
missense |
probably benign |
0.02 |
R9127:Lyst
|
UTSW |
13 |
13808827 |
missense |
probably damaging |
1.00 |
R9143:Lyst
|
UTSW |
13 |
13835750 |
missense |
probably damaging |
0.98 |
R9216:Lyst
|
UTSW |
13 |
13823188 |
missense |
probably benign |
|
R9217:Lyst
|
UTSW |
13 |
13871245 |
missense |
probably benign |
0.01 |
R9291:Lyst
|
UTSW |
13 |
13883938 |
missense |
probably benign |
0.01 |
R9302:Lyst
|
UTSW |
13 |
13904947 |
missense |
possibly damaging |
0.46 |
R9370:Lyst
|
UTSW |
13 |
13935333 |
missense |
probably damaging |
1.00 |
R9402:Lyst
|
UTSW |
13 |
13812463 |
missense |
probably benign |
|
R9457:Lyst
|
UTSW |
13 |
13862330 |
missense |
possibly damaging |
0.83 |
R9481:Lyst
|
UTSW |
13 |
13857653 |
missense |
possibly damaging |
0.68 |
R9563:Lyst
|
UTSW |
13 |
13812408 |
missense |
probably benign |
0.36 |
R9623:Lyst
|
UTSW |
13 |
13852587 |
missense |
probably benign |
|
R9661:Lyst
|
UTSW |
13 |
13808779 |
missense |
probably benign |
0.01 |
R9682:Lyst
|
UTSW |
13 |
13831526 |
missense |
probably benign |
0.21 |
R9743:Lyst
|
UTSW |
13 |
13809323 |
missense |
possibly damaging |
0.67 |
R9801:Lyst
|
UTSW |
13 |
13809290 |
missense |
probably damaging |
0.97 |
RF001:Lyst
|
UTSW |
13 |
13810426 |
missense |
probably benign |
|
RF002:Lyst
|
UTSW |
13 |
13808948 |
missense |
probably benign |
0.05 |
X0024:Lyst
|
UTSW |
13 |
13809033 |
missense |
probably benign |
0.00 |
X0026:Lyst
|
UTSW |
13 |
13926555 |
missense |
probably damaging |
0.99 |
Z1088:Lyst
|
UTSW |
13 |
13918018 |
missense |
probably benign |
0.09 |
Z1176:Lyst
|
UTSW |
13 |
13951664 |
missense |
probably benign |
0.27 |
Z1176:Lyst
|
UTSW |
13 |
13814692 |
missense |
probably damaging |
1.00 |
Z1177:Lyst
|
UTSW |
13 |
13854719 |
missense |
possibly damaging |
0.73 |
|
Mode of Inheritance |
Autosomal Recessive |
Local Stock | Lost |
Repository | none |
Last Updated |
2016-05-13 3:09 PM
by Eva Marie Y. Moresco
|
Record Created |
unknown
|
Record Posted |
2007-10-10 |
Phenotypic Description |
Sooty mice have a subtle gray coat color. They have no discernable ocular albinism. Sooty mice are highly susceptible to infection by mouse cytomegalovirus (MCMV) ( MCMV Susceptibility and Resistance Screen), and sooty NK cells fail to degranulate after antibody stimulation of NKp46 or Ly49H receptors, or after exposure to YAC-1 cells or PMA/ionomycin. The strain was lost prior to the availability of germline preservation methods. |
Nature of Mutation | The sooty mutation was mapped to Chromosome 13 between the centromere and the distal marker d13mit14. The region contains the Lyst locus, mutated in beige mice ( 1;2). Sooty was found to be allelic with beige.
Please see the record for souris for information about Lyst. |
Illustration of Mutations in
Gene & Protein |
|
---|
Primers |
Primers cannot be located by automatic search.
|
References | 1. Barbosa, M. D., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C., Lovett, M., and Kingsmore, S. F. (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes, Nature 382, 262-265.
2. Perou, C. M., Moore, K. J., Nagle, D. L., Misumi, D. J., Woolf, E. A., McGrail, S. H., Holmgren, L., Brody, T. H., Dussault, B. J., Jr., Monroe, C. A., Duyk, G. M., Pryor, R. J., Li, L., Justice, M. J., and Kaplan, J. (1996) Identification of the murine beige gene by YAC complementation and positional cloning, Nat. Genet. 13, 303-308. |
Science Writers | Eva Marie Y. Moresco |
Authors | Jason Goode, Bruce Beutler |